Ethnic Populations Research Articles

Disparate outcomes in Hispanic patients with metabolic dysfunction-associated steatotic liver disease/steatohepatitis and type 2 diabetes: Large cohort study

BACKGROUND Metabolic dysfunction-associated steatotic liver disease (MASLD) and metabolic dysfunction-associated steatohepatitis (MASH) are a growing health burden across a significant portion of the global patient population. However, these conditions seem to have disparate rates and outcomes between different ethnic populations. The combination of MASLD/MASH and type 2 diabetes increases the risk of hepatocellular carcinoma (HCC), and Hispanic patients experience the greatest burden, particularly those in South Texas. AIM To compare outcomes between Hispanic and non-Hispanic patients in the United States, while further focusing on the Hispanic population within Southeast Texas to determine whether the documented disparity in outcomes is a function of geographical circumstance or if there is a more widespread reason that all clinicians must account for in prognostic consideration. METHODS This cohort analysis was conducted with data obtained from TriNetX, LLC (“TriNetX”), a global federated health research network that provides access to deidentified medical records from healthcare organizations worldwide. Two cohort networks were used: University of Texas Medical Branch (UTMB) hospital and the United States national database collective to determine whether disparities were related to geographic regions, like Southeast Texas. RESULTS This study findings revealed Hispanics/Latinos have a statistically significant higher occurrence of HCC, type 2 diabetes mellitus, and liver fibrosis/cirrhosis in both the United States and the UTMB Hispanic/Latino groups. All-cause mortality in Hispanics/Latinos was lower within the United States group and not statistically elevated in the UTMB cohort. CONCLUSION This would appear to support that Hispanic patients in Southeast Texas are not uniquely affected compared to the national Hispanic population.

A Qualitative evaluation in community settings in England exploring the experiences of coaches delivering the NHS Low Calorie Diet programme pilot to ethnically diverse participants

BackgroundThe management of type 2 diabetes (T2D) within diverse ethnic populations requires a culturally tailored approach. However, little is known about the experiences of coaches delivering interventions for T2D, such...

Frequency of Transcription Factor 7-like 2 rs12255372 Mutation among Bangladeshi Adult Type 2 Diabetes Patients

ABSTRACT Background: While the etiology of type 2 diabetes mellitus (T2DM) is complex, genetic markers for T2DM are surfacing fast, and amidst such markers, the transcription factor 7-like 2 (TCF7L2) gene has been emerged as the most promising T2DM-causing gene. The intronic variant rs12255372 of the TCF7L2 gene has been found to be strongly associated with T2DM in different ethnic populations. Objectives: The objectives of this study were to determine the frequency of rs12255372 polymorphism in the TCF7L2 gene in Bangladeshi adult population with T2DM. Materials and Methods: This cross-sectional study was conducted in the Department of Endocrinology, Bangabandhu Sheikh Mujib Medical University. Eighty T2DM patients were recruited consecutively by nonrandom sampling, who signed the informed consent, history, and clinical features including height, weight, and waist circumferences were recorded. Blood samples were collected. Genomic DNA was extracted and single-nucleotide polymorphisms rs12255372 (G>T) were determined by the restriction fragment length polymorphism (RFLP) method. Statistical Analysis: RFLP results were analyzed by the gel electrophoresis to get the frequency of rs12255372 polymorphism. The independent segregation of alleles was tested for Hardy–Weinberg equilibrium using the Chi-square test of goodness of fit. P ≤0.05 was considered statistically significant. Results: The minor (T) allele frequencies (MAF) for rs12255372 (G>T) among T2DM was 28%. The observed genotype frequencies of rs12255372 (G>T) were different than those expected from the Hardy–Weinberg equation. Conclusion: The minor T allele frequency of rs12255372 (G>T) among T2DM participants was about one-fourth.

Place-Based Measures of Inequity and Vision Difficulty and Blindness

Known social risk factors associated with poor visual and systemic health in the US include segregation, income inequality, and persistent poverty. To investigate the association of vision difficulty, including blindness, in neighborhoods with measures of inequity (Theil H index, Gini index, and persistent poverty). This cross-sectional study used data from the 2012-2016 American Community Survey and 2010 US census tracts as well as Theil H index, Gini index, and persistent poverty measures from PolicyMap. Data analysis was completed in July 2023. The main outcome was the number of census tract residents reporting vision difficulty and blindness (VDB) and the association with the Theil H index, Gini index, or persistent poverty, assessed using logistic regression. In total, 73 198 census tracts were analyzed. For every 0.1-unit increase in Theil H index and Gini index, there was an increased odds of VDB after controlling for census tract-level median age, the percentage of the population that identified as female sex, the percentage of the population that identified as a member of a racial or ethnic minority group, state, and population size (Theil H index: odds ratio [OR], 1.14 [95% CI, 1.14-1.14; P < .001]; Gini index: OR, 1.15 [95% CI, 1.15-1.15; P < .001]). Persistent poverty was associated with an increased odds of VDB after controlling for census tract-level median age, the percentage of the population that identified as female sex, the percentage of the population that identified as a member of a racial or ethnic minority group, state, and population size compared with nonpersistent poverty (OR, 1.36; 95% CI, 1.35-1.36; P < .001). In this cross-sectional study, residential measures of inequity through segregation, income inequality, or persistent poverty were associated with a greater number of residents living with VDB. It is essential to understand and address how neighborhood characteristics can impact rates of VDB.

Trends and Disparities in Treatment and Control of Atherosclerotic Cardiovascular Disease in US Adults, 1999 to 2018.

Although cardiovascular mortality continued declining from 2000 to 2019, the rate of this decrease decelerated. We aimed to assess the trends and disparities in risk factor control and treatment among US adults with atherosclerotic cardiovascular disease to find potential causes of the deceleration. A total of 55 ,021 participants, aged ≥20 years, from the 1999 to 2018 National Health and Nutrition Examination Survey were included, of which 5717 were with atherosclerotic cardiovascular disease. Risk factor control was defined as hemoglobin A1c <7%, blood pressure <140/90 mm Hg, and non-high-density lipoprotein cholesterol <100 mg/dL. The prevalence of atherosclerotic cardiovascular disease oscillated between 7.3% and 8.9% from 1999 to 2018. A significant increasing trend was observed in the prevalence of diabetes, obesity, heavy alcohol consumption, and self-reported hypertension within the population with atherosclerotic cardiovascular disease (Ptrend≤0.001). Non-high-density lipoprotein cholesterol <100 mg/dL increased from 7.1% in 1999 to 2002 to 15.7% in 2003 to 2006, before plateauing. Blood pressure control (<140/90 mm Hg) increased until 2011 to 2014, but declined to 70.1% in 2015 to 2018 (Ptrend<0.001, Pjoinpoint=0.14). Similarly, the proportion of participants achieving hemoglobin A1c control began to decrease after 2006 (Pjoinpoint=0.05, Ptrend=0.001). The percentage of participants achieving all 3 targets increased significantly from 4.5% to 18.6% across 1999 to 2018 (Ptrend=0.02), but the increasing trend decelerated after 2005 to 2006 (Pjoinpoint<0.001). Striking disparities in risk factor control and medication use persisted between sexes, and between different racial and ethnic populations. Worsened control of glycemia, blood pressure, obesity, and alcohol consumption, leveled lipid control, and persistent socioeconomic disparities may be contributing factors to the observed deceleration in decreasing cardiovascular mortality trends.

Bruxism in Children

Background: Bruxism can occur in children living or residing in slums areas, rural areas, remote and urban communities. The prevalence of bruxism among children varies in the literature. Bruxism is associated with sound during teeth clenching or involuntary teeth grinding, and this can disturb parents, guardian and family members. It can be diagnosed with clinical history, clinical examinationand use of electromyography and polysomnography. Method: An electronic literature search in science direct and goggle was done in December 2023 using the Population, Concept and Context framework. Search terms and keywords were combined by Boolean operators. Two independent investigators screened titles and abstracts of publications on bruxism among children. Original (primary) research articles with accessible full text were included for review, while review articles, systematic reviews, thesis, dissertations and perspectives related to bruxism among children were among articles excluded during screening. Original (primary) research articles related to voluntary tooth clenching,other oral habits and bruxism/tooth grinding among children with special health care needs were also excludedduring screening. Results: Abstract and full texts were screened using inclusion criteria by two independent investigators. The identified study was carried out in Egypt, Ugandaand South Africa respectively. Conclusion: Bruxism can occur among children.Itcan affect the quality of life of childrenwith tooth sensitivity, tooth attrition with wear facets, and psychological concerns.More studies from diverse ethnic population and countriesin Africa countries will fill the gaps in knowledge and add to the existing literature. J Rang Med Col. March 2024; Vol. 9, No. 1: 82-85

Abstract PO3-10-07: Leveraging AI to identify factors influencing access to care and their association with overall survival- a multiracial Breast Cancer cohort

Abstract Introduction: Data from the Centers for Disease Control and Prevention (CDC) labels each US state based on its 5-Year Relative Survival of Breast Cancer (BC) patients (pts). Data is categorized into four “survival groups'', each representing a range of 5-year survival percentages. Using real-world data, this study characterized the populations in each survival group, examining pt knowledge and education about their disease as well as preferences and factors influencing their decision to explore clinical trial (CT) opportunities. Methods: Leal is an AI-based platform that employs self-reported medical profiles to match cancer pts with CTs. This study involved a diverse cohort of 14,509 BC pts who completed the questionnaire. The geographic distribution of pts across US states was analyzed, taking into account the state’s 5-year BC survival %. Four groups were defined as follows: Group A (86.4 - 89.4%), Group B (89.4 - 90.4%), Group C (90.4 - 91.5%), and Group D (92.0 - 95.0%). Parameters such as race, willingness to travel, insurance coverage, performance of genetic testing, and biomarker knowledge were considered in the analysis. Results: We found significant variations in registration rates on the Leal platform across groups. The Highest registration rate was recorded for Group D which has the highest 5-year survival rate (p&amp;lt; 0.0001). Group A which has the lowest 5-year relative survival had a significantly higher proportion of African Americans compared to group D (14% vs 4%, p &amp;lt; 0.0001). Moreover, while there was no difference in the percentage of pts undergoing Next-Generation Sequencing (NGS) in both groups, a larger proportion of pts in Group D demonstrated proficiency in interpreting the test reports (p = 0.05). Although no significant differences were found in the proportion of pts who were aware of their treatment (tx) history between the two groups, whites in both groups exhibited greater knowledge of their tx (p = 0.001). Additionally, pts in Group D showed a significantly higher willingness to travel longer distances to participate in CTs (p=0.001), and a larger percentage of them had insurance coverage. Conclusions: This study used data from CDC that categorized US states into four groups based on BC pts’ 5-Year Survival. CT participation is associated with better clinical outcomes, especially for pts with poorer prognosis. In agreement, we show a higher signup rate to the Leal platform in States with higher 5-year relative survival, possibly pointing to higher CT education and knowledge among pts in those states. This is further supported by higher proficiency in interpreting NGS reports, resulting in better-optimized CT options on the Leal platform. Group A was also characterized by a reduced willingness to travel for a CT and a larger proportion of pts without health insurance. Those are significant barriers for CT enrollment, and ultimately limit access to optimal care and may impact outcomes. Gaps in knowledge of key disease parameters such as tx history were observed for African Americans, regardless of geographic location, highlighting the need to focus on minority populations even in states where the survival rate is relatively high. In agreement, the proportion of African Americans in group A was markedly higher, correlating with current disparities in access to tx and poorer outcomes. AI-based platforms are optimized for the exact identification of barriers to access to care and for enabling relevant healthcare and support organizations to effectively address individual patient issues, consequently increasing access to CTs, particularly among different racial and ethnic populations. Citation Format: Michal Safran, Yelena Lapidot, Tzvia Bader, Avital Gaziel. Leveraging AI to identify factors influencing access to care and their association with overall survival- a multiracial Breast Cancer cohort [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO3-10-07.

Examining the influence of community leaders and other community actors on immunisation practices in Australia: A national cross-sectional study

BackgroundVariation in COVID-19 vaccination coverage and increasing vaccine hesitancy are well documented, especially amongst ethnic minority populations and current channels of vaccine and communication have been found to be inadequate. It has been suggested that more be done to utilise community-led pathways to improve vaccine readiness in ethnic minority communities in Australia. The study aimed to explore receptiveness towards the role of different actors and methods of communication about immunisation. MethodsA cross-sectional survey of 1,227 adults in Australia was conducted to examine the roles of various actors in promoting vaccine uptake. Chi-square analyses and independent samples t-tests were used to identify significant associations between sociodemographic characteristics, vaccine practices, and vaccine information-seeking behaviours and (1) COVID-19 vaccine uptake (at least one dose) and (2) speaking a language other than English ResultsAt the time of the survey, 93% of respondents had received at least one dose of the COVID-19 vaccine. There were significant associations between COVID-19 vaccine uptake and: perceived capacity to locate accurate and timely vaccine information; receiving the COVID-19 vaccination information from a Nurse or Pharmacist; and receiving a vaccine recommendation by a GP. Additionally, respondents who spoke a language other than English reported were significantly more likely to have received information from family, friends, workplaces, local councils, religious centres, community leaders, and religious leaders than those who only spoke English. ConclusionSignificant variations in vaccine practices and vaccine information-seeking behaviours were found, especially in those who speak a language other than English. To enhance vaccine uptake and to address vaccine hesitancy in Australia, vaccine promotion strategies and health communication efforts require significant consideration of information accessibility and communication source preferences

Early childhood caries among pre-school children in rural areas

Background: Early childhood caries can occur and exist among children in slums areas, rural areas and under-served communities. Africa has countries with rural areas inhabited by diverse ethnic populations of pre-school children, with their parents and family members. Method: An electronic literature search in Science direct and PubMed was done in January, 2024 using the Population, Concept and Context framework. Search terms and keywords were combined by Boolean operators. Two independent investigators screened titles and abstracts of publications on early childhood caries among pre-school children in rural areas. The inclusion criteria was original (primary) research articles with accessible full text, related to early childhood caries among pre-school children in rural areas, carried out in Africa, published in English and in electronic databases. Original research articles related to early childhood caries among pre-school children in urban, semi-urban or sub-urban areas, hospital based studies, studies with participants selected from rural and urban or rural and semi-urban communities, review articles, systematic reviews, thesis or dissertations were excluded during screening. Results: Three articles with accessible full texts were included as it was assessed to meet the aim of the review. The study designs of the included studies were cross-sectional study, randomized, controlled field trial and a case-control study respectively. The studies were carried out in rural areas of Uganda and Egypt respectively. Conclusion: Early childhood caries has multifactorial aetiology. More studies from diverse ethnic population in Africa countries will fill the gaps in knowledge and add to the existing literature.

Genetic association of TGFβ1 polymorphisms with Alzheimer’s disease: A meta-analysis

Alzheimer’s disease is the major cause of dementia, characterized by symptoms such as memory impairment and emotional disturbances. The association of TGFβ1 SNPs with Alzheimer’s disease has been reported in various studies but conflicting results were obtained worldwide. Hence, we have performed a meta-analysis of three SNPs in relationship with Alzheimer’s disease susceptibility. Several bibliographies were screened to identify the eligible studies upto July 2023. The published literature search for relevant studies was conducted in NCBI-PubMed, Google scholar and Cochrane library databases. Thirteen studies were selected based on our inclusion criteria. Finally, total 4584 Alzheimer’s disease subjects and 14174 controls were included in TGFβ1 gene meta-analysis. Among the analyzed (rs1800468, rs1800469 and rs9282871) SNPs, significant association was obtained for rs9282871 polymorphism with Alzheimer’s disease under four genetic models respectively. The stratification based on subgroups by ethnic descents was not executed due to less number of studies from African and Asian ethnic populations. Further extensive studies based on genetic and functional aspects of TGFβ1 gene are required to elucidate Alzheimer’s disease pathogenesis.

Mixed methods evaluation of the COVID-19 changes to the WIC cash-value benefit for fruits and vegetables.

Recent cash-value benefit (CVB) increases are a positive development to help increase WIC participant fruits and vegetables (FV) access. Little is known about the impacts of the CVB changes on FV redemptions or about implementation successes and challenges among WIC State and local agencies. This mixed method study aimed to evaluate (a) the CVB changes' impact on FV access among WIC child participants measured by CVB redemption rates, (b) facilitators and barriers to CVB changes' implementation, and (c) differences in FV redemption and facilitators and barriers by race/ethnicity. We requested redemption data from all 89 State agencies for April 2020 to September 2022 and utilized descriptive statistics, interrupted time series analysis (ITS), and generalized linear regression analysis. Additionally, we recruited State agencies, local agencies, and caregivers across the U.S. for interviews and used rapid qualitative analysis to find emerging themes anchored in policy evaluation and implementation science frameworks. We received redemption data from 27 State agencies and interviewed 23 State agencies, 61 local agencies, and 76 caregivers of child WIC participants. CVB monthly redemptions increased at $35/child/month compared to $9/child/month; however, adjusted ITS analyses found a decrease in redemption rates at $35/child/month. The decrease was not significant when the transition/first implementation month was excluded with rates progressively increasing over time. Differences were found among racial/ethnic groups, with lower redemption rates observed for non-Hispanic Black caregivers. Overall, WIC caregivers reported high satisfaction and utilization at the $35/child/month. The frequent and quick turnaround CVB changes strained WIC agency resources with agencies serving higher caseloads of diverse racial and ethnic populations experiencing greater issues with implementing the CVB changes. Despite implementation challenges, the increased CVB shows promise to improve WIC participant FV access and satisfaction with WIC. WIC agencies need adequate lead time to update the CVB amounts, and resources and support to help ensure equitable distribution and utilization of the FV benefits.

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health

BackgroundAdmixture occurs between different ethnic human populations. The global colonization in recent centuries by Europeans led to the most significant admixture in human history. While admixture may enhance genetic diversity for better fitness, it may also impact on human health by transmitting genetic variants for disease susceptibility in the admixture population. The admixture by Portuguese global exploration initiated in the 15th century has reached over 20 million of Portuguese-heritage population worldwide. It provides a valuable model to study the impact of admixture on human health. BRCA1 and BRCA2 (BRCA) are two of the important tumor suppressor genes. The pathogenic variation (PV) in BRCA is well determined to cause high risk of hereditary breast and ovarian cancer. Tracing the distribution of Portuguese BRCA PV in Portuguese-heritage population will help to understand the impact of admixture on cancer susceptibility in modern humans. In this study, we analyzed the distribution of the Portuguese-originated BRCA variation in Brazilian population, which has high degree Portuguese-heritage.MethodsBy comprehensive data mining, standardization and annotation, we generated a Portuguese-derived BRCA variation dataset and a Brazilian-derived BRCA variation dataset. We compared the two BRCA variation datasets to identify the BRCA variants shared between the two populations.ResultsThe Portuguese-derived BRCA variation dataset consists of 220 BRCA variants including 78 PVs from 11,482 Portuguese cancer patients, 93 (42.2%) in BRCA1 and 127 (57.7%) in BRCA2. Of the 556 Portuguese BRCA PV carriers carrying the 78 PVs, 331 (59.5%) carried the three Portuguese-BRCA founder PVs of BRCA1 c.2037delinsCC, BRCA1 c.3331_3334del and BRCA2 c.156_157insAlu. The Brazilian-derived BRCA variation dataset consists of 255 BRCA PVs from 7,711 cancer patients, 136 (53.3%) in BRCA1 and 119 (46.6%) in BRCA2. We developed an open database named dbBRCA-Portuguese (https://genemutation.fhs.um.edu.mo/dbbrca-portuguese/) and an open database named dbBRCA-Brazilian (https://genemutation.fhs.um.edu.mo/dbbrca-brazilian) to host the BRCA variation data from Portuguese and Brazilian populations. We compared the BRCA PV datasets between Portuguese and Brazilian populations, and identified 29 Portuguese-specific BRCA PVs shared between Portuguese and Brazilian populations, 14 in BRCA1 including the Portuguese founder BRCA1 c.3331_3334del and BRCA1 c.2037delinsCC, and 15 in BRCA2 including the Portuguese founder BRCA2 c.156_157insAlu. Searching the 78 Portuguese BRCA PVs in over 5,000 ancient human genomes identified evolution origin for only 8 PVs in Europeans dated between 37,470 and 3,818 years before present, confirming the Portuguese-specificity of Portuguese BRCA PVs; comparing the 78 Portuguese BRCA PVs Portuguese, 255 Brazilian BRCA PVs, and 134 African BRCA PVs showed little overlapping, ruling out the possibility that the BRCA PVs shared between Portuguese and Brazilian may also be contributed by African.ConclusionOur study provides evidence that the admixture in recent human history contributed to cancer susceptibility in modern humans.

Advancements in Oncology: Evolving Standards of Care and Personalized Treatment in Lung Cancer

Lung cancer remains a significant global health concern, impacting patients and healthcare systems alike. In recent years, substantial progress has been made in understanding the biology, diagnosis, and treatment of both small-cell and non-small-cell lung cancer (SCLC and NSCLC). This research paper synthesizes and reviews key findings from multiple studies published between 2007 and 2023, addressing various aspects of lung cancer researchThe studies covered in this review encompass a broad spectrum of topics, including systemic therapy, targeted treatments, genetic mutations, healthcare strategies, and patient outcomes. Notable highlights include the impact of EGFR tyrosine kinase inhibitors on NSCLC treatment, the role of nuclear factor erythroid 2-related factor 2 (NRF2) in lung adenocarcinoma, the utilization of large databases in radiation oncology research, and the importance of empathy in patient care.The paper also examines the latest developments in the molecular epidemiology of lung cancer, differences in lung cancer susceptibility among ethnic populations, and the implementation of multidisciplinary clinics for timely lung cancer care. It further delves into the significance of liquid biopsy in identifying genetic mutations for targeted therapies, the effect of ALK-positive cell percentage on the outcomes of Alectinib treatment, and the role of epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitors in adjuvant therapy.Furthermore, this review assesses the impact of platinum-based chemotherapy on the survival of NSCLC patients and explores predictive factors, such as the VeriStrat test, in second-line therapy. The research also addresses the challenges and opportunities in the use of immune checkpoint inhibitors in advanced NSCLC, as well as the clinical utility of epidermal growth factor receptor (EGFR) testing in first-line therapy.In conclusion, this comprehensive review sheds light on the current state of lung cancer research, highlighting breakthroughs, challenges, and the potential for future advancements in the diagnosis and treatment of this life-threatening disease. The insights gathered from these diverse studies provide a valuable resource for clinicians, researchers, and healthcare providers in their efforts to combat lung cancer and improve patient outcomes.

Genomic Testing Identifies Monogenic Causes in Patients with Very Early-Onset Inflammatory Bowel Disease: A Multi-center Survey in an Iranian Cohort.

Patients with very early-onset inflammatory bowel disease (VEO-IBD) may present because of underlying monogenic inborn errors of immunity (IEI). Strong differences have been observed in the causes of monogenic IBD among ethnic populations. This multi-center study was carried out on 16 Iranian patients with VEO-IBD. We reviewed clinical and basic immunologic evaluation including flow cytometry and immunoglobulin levels. All patients underwent clinical whole exome sequencing (WES). Sixteen patients (8 females and 8 males) with a median age of 43.5 months were enrolled. The median age at the onset of symptoms was 4 months. Most patients (12, 75%) had consanguineous parents. Chronic non-bloody diarrhea (13, 81.3%) and perianal diseases including perianal abscess (6, 37.5%), anal fissure (6, 37.5%), or anal fistula (2, 12.5%) were the most common manifestations. WES identified a spectrum of genetic variants in 13 patients (81.3%): IL10RB (6, 37.5%), MVK (3, 18.8%), and CASP8, SLC35C1, G6PC3, and IKBKB in one patient, respectively. In 3 patients (18.7%) no variant was identified. Flow cytometry identified a spectrum of abnormalities that helped to assess the evidence of genetic diagnosis. At the end of the survey, 3 (18.8%) patients were deceased. This high rate of monogenic defects with a broad spectrum of genes reiterates the importance of investigating IEI in patients with infantile-onset IBD.

HLA-B and C Expression Contributes to COVID-19 Disease Severity within a South African Cohort.

Globally, SARS-CoV-2 has negatively impacted many lives and industries due to its rapid spread, severe outcomes, and the need for the implementation of lockdown strategies across the world. SARS-CoV-2 disease severity varies among different populations. Host genetics have been associated with various diseases, and their ability to alter disease susceptibility and severity. In addition, Human Leukocyte Antigen (HLA) expression levels and alleles vary significantly among ethnic groups, which might impact the host's response to SARS-CoV-2. Our previous study highlighted that HLA-A might have an effect on COVID-19 disease severity across ethnicities. Therefore, in this study, we aim to examine the effect of HLA-B and C expression levels on COVID-19 disease severity. To achieve this, we used real-time PCR to measure the HLA mRNA expression levels of SARS-CoV-2-infected individuals from a South African cohort and compared them across ethnic groups, disease outcomes, gender, comorbidities, and age. Our results show (1) that the effect of HLA-B mRNA expression levels was associated with differences in disease severity when we compare symptomatic vs. asymptomatic (p < 0.0001). While HLA-C mRNA expression levels were not associated with COVID-19 disease severity. (2) In addition, we observed that HLA-B and HLA-C mRNA expression levels were significantly different between South African Black individuals and South African Indian individuals (p < 0.0001, p < 0.0001). HLA-B mRNA expression levels among symptomatic South African Black individuals were significantly higher than symptomatic South African Indian individuals (p < 0.0001). In addition, the HLA-B mRNA expression levels of symptomatic South African Black individuals were significantly higher than asymptomatic South African Black individuals (p > 0.0001). HLA-C mRNA expression levels among symptomatic South African Black individuals were significantly higher than among symptomatic South African Indian individuals (p = 0.0217). (3) HLA-C expression levels were significantly different between males and females (p = 0.0052). In addition, the HLA-C expression levels of asymptomatic males are higher than asymptomatic females (p = 0.0375). (4) HLA-B expression levels were significantly different between individuals with and without comorbidities (p = 0.0009). In addition, we observed a significant difference between individuals with no comorbidities and non-communicable diseases (p = 0.0034), in particular, hypertension (p = 0.0487). (5) HLA-B expression levels were significantly different between individuals between 26-35 and 56-65 years (p = 0.0380). Our work is expected to strengthen the understanding of the relationship between HLA and COVID-19 by providing insights into HLA-B and C expression levels across ethnic populations in South Africa among COVID-19-symptomatic and asymptomatic individuals. Our results highlight that HLA-B mRNA expression levels contribute to COVID-19 severity as well as variation in ethnicities associated with COVID-19. Further studies are needed to examine the effect of HLA expression levels across various ethnic groups with contributing factors.

Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder

With its high rate of consanguineous marriages and diverse ethnic population, little is currently understood about the genetic architecture of autism spectrum disorder (ASD) in Pakistan. Pakistan has a highly ethnically diverse population, yet with a high proportion of endogamous marriages, and is therefore anticipated to be enriched for biallelic disease-relate variants. Here, we attempt to determine the underlying genetic abnormalities causing ASD in thirty-six small simplex or multiplex families from Pakistan. Microarray genotyping followed by homozygosity mapping, copy number variation analysis, and whole exome sequencing were used to identify candidate. Given the high levels of consanguineous marriages among these families, autosomal recessively inherited variants were prioritized, however de novo/dominant and X-linked variants were also identified. The selected variants were validated using Sanger sequencing. Here we report the identification of sixteen rare or novel coding variants in fifteen genes (ARAP1, CDKL5, CSMD2, EFCAB12, EIF3H, GML, NEDD4, PDZD4, POLR3G, SLC35A2, TMEM214, TMEM232, TRANK1, TTC19, and ZNF292) in affected members in eight of the families, including ten homozygous variants in four families (nine missense, one loss of function). Three heterozygous de novo mutations were also identified (in ARAP1, CSMD2, and NEDD4), and variants in known X-linked neurodevelopmental disorder genes CDKL5 and SLC35A2. The current study offers information on the genetic variability associated with ASD in Pakistan, and demonstrates a marked enrichment for biallelic variants over that reported in outbreeding populations. This information will be useful for improving approaches for studying ASD in populations where endogamy is commonly practiced.

Genetic diversity among the present Japanese population: evidence from genotyping of human cell lines established in Japan.

Japan is often assumed to have a highly homogeneous ethnic population, because it is an island country. This is evident in human cell lines collected from cell banks; however, these genotypes have not been thoroughly characterized. To examine the population genotypes of human cell lines established in Japan, we conducted SNP genotyping on 57 noncancerous cell lines and 43 lung cancer cell lines. Analysis of biogeographic ancestry revealed that 58 cell lines had non-admixed Japanese genotypes, 21 cell lines had an admixture of Japanese and East Asian genotypes, and the remaining 21 cell lines had East Asian genotypes. The proportion of non-admixed Japanese genotypes was similar between lung cancer and noncancerous cell lines, suggesting that patients in Japan may not exclusively have Japanese genotypes. This could influence the incidence of inherited diseases and should be taken into account in personalized medicine tailored to genetic background. The genetic makeup of the present-day Japanese population cannot be fully explained by the ancestral Jomon and Yayoi lineages. Instead, it is necessary to consider a certain level of genetic admixture between Japanese and neighboring Asian populations. Our study revealed genetic variation among human cell lines derived from Japanese individuals, reflecting the diversity present within the Japanese population.

Genetic Polymorphisms and Forensic Parameters of Thirteen X-Chromosome Markers in the Iraqi Kurdish Population.

X-chromosome short tandem repeat (X-STR) tools are crucial in forensic genetics and human population fields. This study presents the development and validation of a multiplex STR system consisting of thirteen X-STR loci and amelogenin specific to the human X chromosome. The system was optimized and tested for species specificity, sensitivity, stability, and DNA mixture using 9947A female and 9948 male control genomic DNA. The amplified products of nine loci were sequenced to determine the correct amplicon length. Allele frequencies, forensic parameters, mean exclusion chance (MEC), linkage disequilibrium (LD), and allelic patterns were investigated using DNA samples from 225 (159 male, 66 female) unrelated Kurdish individuals who live in Sulaymaniyah province in the Kurdistan region of Iraq. The most informative locus in the Kurdish population was GATA172D05, while the least informative locus was DXS10164. The results demonstrated that the 13 X-STR system is highly polymorphic and sensitive for forensic DNA identification. Genetic distance-based clustering, metric multidimensional scaling (MDS), and correlation matrix were analyzed for 19 ethnic groups and populations. The phylogenetic tree showed that populations clustered according to their ethnogeographic relationships. The findings revealed genetic links between the Iraqi Kurds, Caucasians, Iraqi Arabs, United States (U.S.) ethnic groups, and Chinese populations.

Disadvantaged groups have greater spatial access to pharmacies in New York state

BackgroundThe accessibility of pharmacies has been associated with overall health and wellbeing. Past studies have suggested that low income and racial minority communities are underserved by pharmacies. However, the literature is inconsistent in finding links between area-level income or racial and ethnic composition and access to pharmacies. Here we aim to assess area-level spatial access to pharmacies across New York State (NYS), hypothesizing that Census Tracts with higher poverty rates and higher percentages of Black and Hispanic residents would have lower spatial access.MethodsThe population weighted mean shortest road network distance (PWMSD) to a pharmacy in 2018 was calculated for each Census Tract in NYS. This statistic was calculated from the shortest road network distance to a pharmacy from the centroid of each Census block within a tract, with the mean across census blocks weighted by the population of the census block. Cross-sectional analyses were conducted to assess links between Tract-level socio demographic characteristics and Tract-level PWMSD to a pharmacy.ResultsOverall the mean PWMSD to a pharmacy across Census tracts in NYS was 2.07 Km (SD = 3.35, median 0.85 Km). Shorter PWMSD to a pharmacy were associated with higher Tract-level % poverty, % Black/African American (AA) residents, and % Hispanic/Latino residents and with lower Tract-level % of residents with a college degree. Compared to tracts in the lowest quartile of % Black/AA residents, tracts in the highest quartile had a 70.7% (95% CI 68.3–72.9%) shorter PWMSD to a pharmacy. Similarly, tracts in the highest quartile of % poverty had a 61.3% (95% CI 58.0-64.4%) shorter PWMSD to a pharmacy than tracts in the lowest quartile.ConclusionThe analyses show that tracts in NYS with higher racial and ethnic minority populations and higher poverty rates have higher spatial access to pharmacies.

Two Kinds of Vaccine Hesitancy

ABSTRACT We ask whether it is reasonable to delay or refuse to take COVID-19 vaccines that have been shown in clinical trials to be safe and effective against infectious diseases. We consider two kinds of vaccine hesitancy. The first is geared to scientifically informed open questions about vaccines. We argue that in cases where the data is not representative of relevant groups, such as pregnant women and ethnic minorities, hesitancy can be reasonable on epistemic grounds. However, we argue that hesitancy is not reasonable if a vaccine has passed well-conducted clinical trials. The second kind of hesitancy is to do with beliefs about the institutions offering a successfully trialled vaccine and the justifiability of cooperating with those institutions. For example, in the UK, distrust of the UK Government or the National Health Service is identified as a factor in the vaccine hesitancy of minority ethnic populations. We ask whether this sort of hesitation is reasonable given normative requirements of fair co-operation, both with those institutions and the wider population. We suggest that the answer is not straightforward. Sometimes the hesitation is unreasonable but understandable.