Ethnicity-related Differences Research Articles

Ethnicity-related differences in mitochondrial regulation by insulin stimulation in diabetes.

Mitochondrial dysfunction has long been implicated in the development of insulin resistance, which is a hallmark of type 2 diabetes. However, recent studies reveal ethnicity-related differences in mitochondrial processes, underscoring the need for nuance in studying mitochondrial dysfunction and insulin sensitivity. Furthermore, the higher prevalence of type 2 diabetes among African Americans and individuals of African descent has brought attention to the role of ethnicity in disease susceptibility. In this review, which covers existing literature, genetic studies, and clinical data, we aim to elucidate the complex relationship between mitochondrial alterations and insulin stimulation by considering how mitochondrial dynamics, contact sites, pathways, and metabolomics may be differentially regulated across ethnicities, through mechanisms such as single nucleotide polymorphisms (SNPs). In addition to achieving a better understanding of insulin stimulation, future studies identifying novel regulators of mitochondrial structure and function could provide valuable insights into ethnicity-dependent insulin signaling and personalized care.

Gender, racial and ethnic disparities in acute coronary syndromes with coronary in-stent restenosis

BackgroundCoronary in-stent restenosis (ISR) is a major clinical challenge of contemporary percutaneous revascularization and portends adverse cardiovascular outcomes. ObjectivesWe aimed to evaluate gender, race, and ethnicity related outcomes in acute coronary syndromes (ACS) with ISR. MethodsPrimary hospitalizations for ACS and ISR in the National Inpatient Sample database from 2016 to 2019 were included. Patients were stratified by gender, race, and ethnicity. The primary end points were all cause in-hospital mortality and coronary revascularization defined as composite of percutaneous coronary intervention (PCI), balloon angioplasty and/or coronary artery bypass grafting (CABG). ResultsDuring the study period, a nationally weighted total of 97,680 patients with ACS and ISR were included. There was substantial variation in comorbidities, with greatest burden among Black and Hispanic women. All-cause in-hospital mortality was 2.4 % in the study cohort, but significantly higher in women (2.1 % vs. 2.1 %; aOR: 1.282, 95 % CI: 1.174–1.4; p < 0.001) and revascularization rates were significantly lower in women (77 % vs 80.2 %; aOR: 0.891, 95 % CI: 0.862–0.921; p < 0.001). Compared to White men, all women except Hispanic women, had significantly higher likelihood of in-hospital mortality, while White women, Black men and women, and Hispanic men had lower odds of revascularization. ConclusionsThere are significant gender, racial, and ethnic related differences in revascularization practices and clinical outcomes in patients with ACS and ISR with an adverse impact on women, racial and ethnic minorities in the U.S.

Sex- and Ethnicity-related Differences in Pheochromocytoma/Paraganglioma.

Sex- and Ethnicity-related Differences in Pheochromocytoma/Paraganglioma.

A pharmacist-led community-based survey study: Determining the impact of the Covid-19 pandemic on actionable factors associated with worse cancer outcomes and cancer health disparities

PurposeThe goals of this cross-sectional community-based survey study were to assess the impact of the Covid-19 pandemic on actionable factors which are known to contribute to worse cancer outcomes, and to determine whether race and ethnicity-based differences exist. MethodsA survey study which captured demographic information and changes in cancer outcomes-related factors since the start of the Covid-19 pandemic, was conducted at a public Covid-19 vaccination clinic over a period of 10 days during March 2021. Surveys were administered in multiple languages. Chi-square tests and ANOVA followed by post-hoc Dunnett testing assessed for race and ethnicity-based differences. ResultsA total of 949 people participated (61.6% participation rate). Ninety-three surveys were removed based on inclusion criteria giving a final participant number of 856. Many participants reported postponing cancer screenings (17.8%) and cancellation of medical appointments (22.8% and 25.8% reported cancelled appointments by providers or themselves, respectively) due to the pandemic. Participants also reported decreased physical activity (44.7%) and increased tobacco and/or marijuana usage (7.0%). Conversely, participants reported consuming more fruits and vegetables (21.4%) and decreasing alcohol consumption (21.4%). Several race-related differences but no ethnicity-related differences were observed. ConclusionOur data can be used to help guide pharmacist-led targeted outreach in our community which will help mitigate Covid-19 pandemic-driven changes in behaviors associated with worse cancer outcomes and exacerbation of cancer health disparities. To our knowledge, this is the first cancer outcomes-related study to be conducted at a public Covid-19 vaccination site and is the first pharmacist-led study in this area.

Abstract 1899: Breast density comparison of Hispanic versus Non-Hispanic patients undergoing screening mammograms: Influence of age, parity and breast-feeding

Abstract Background: Higher mammographic breast density is associated with a 4 to 6-fold increased risk of breast cancer. Some single institution retrospective studies show higher breast densities in Hispanic patients (Oppong et al. Breast J. 2018). The prevalence of breast density based on Hispanic ethnicity has not been studied in large database studies. Methods: We performed a retrospective review of women &amp;gt; 40 years undergoing screening mammograms from 2016-2022. Patients with prior history of breast cancer were excluded. We reviewed demographic variables such as race, self-reported ethnicity, body mass index (BMI), parity, breastfeeding and menopausal status. Breast density was characterized as predominantly fatty (PF), scattered fibroglandular (SF), heterogeneously dense (HD) and extremely dense (ED). We used Chi-square and Kruskal-Wallace tests to compare breast density across measured variables, and Ordinal Logistic Regression to compare breast density levels between self-declared ethnicity while adjusting for other variables. Results: 15946 patients were studied; 7317 (46%) identified as Hispanic, the rest non-Hispanic (NH). 6131 (83%) of Hispanics identified as white. Mean age on 1st screening mammogram was 57.64 (SD 7.21). Compared to NH, Hispanics had mean earlier age of 1st mammogram (56.8 vs. 58.3 years), higher BMI (30.5 vs. 28.6) and higher parity (2.53 vs. 1.71). There were significant differences in BI-RADS density categories by Hispanic vs. NH (p&amp;lt;0.001), with differences in PF (20.2% vs. 18.5%), SF (41.7% vs. 39.0%), HD (35.8% vs. 37.2%), and ED (2.3% vs. 5.3%). The ordinal logistic regression model suggests that Hispanics have 17% lower odds than NH of 1 category higher density (OR, 95% CI: 0.83, 0.78-0.88). There were also significant ethnicity differences in age at first exam, BMI, parity, and number of children breast-fed (P&amp;lt;0.001). Adjusting for these ethnicity-associated differences explained the observed differences in density between Hispanic and NH individuals (ORadj, 95% CI: 0.98, 0.92-1.04); adjusting only for BMI served to explain the observed differences in density (ORadj, 95% CI: 0.99, 0.94-1.05). Conclusions: Hispanics were observed to have a lower age of first screening mammogram, higher BMI, higher parity, and breast-fed children compared to non-Hispanics. On univariate analysis, Hispanics were noted to have lower breast density compared to non-Hispanics, these differences do not persist on multivariate analysis. This suggests that BMI likely plays a predominant role in driving the ethnicity-related differences in breast density noted here. Further research efforts should focus on the influence of BMI and other individual-level factors on mammographic density, with a view towards understanding their potential roles in describing differential ethnicity-specific breast cancer risk. Citation Format: Sangeetha Prabhakaran, Vernon S. Pankratz, Jennifer L. Saline, Emily J. Reese. Breast density comparison of Hispanic versus Non-Hispanic patients undergoing screening mammograms: Influence of age, parity and breast-feeding [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 1899.

Retaining the Best

The purpose of this study was to identify what meaningful recognition is to nurses in a postpandemic healthcare landscape. The COVID pandemic has exacerbated the critical need to retain our nursing workforce. Meaningful recognition as a component of a healthy work environment can be a strategy to retain nurses. Identifying what is considered meaningful recognition to nurses will optimize organizational use of it. A descriptive correlational design was used. Members of Sigma Theta Tau in the state of Maryland were asked to respond to an online survey consisting of demographic data and questions exploring meaningful recognition and the healthy work environment using tools with established reliability and validity. Deidentified data from 163 respondents were collected. Meaningful recognition strategies that meant the most to nurses in this study were: 1) reasonable payment for level of service provided; 2) public recognition within the organization and the profession; and 3) opportunities for professional development. Trends in desired meaningful recognition varied across ethnic/racial and gender groups. Meaningful recognition to nurses is as diverse as the nursing population. It is important that instruments be developed to capture the rich cultural and ethnic differences in relation to what is considered meaningful recognition to the nursing workforce. Although pay, public recognition, and opportunities for advancement were seen in this study as important forms of meaningful recognition, a deeper exploration across ethnic, racial, and gender groups is needed. This study underscored that one size of meaningful recognition does not fit all.

Evaluation of a New Performance-Based Health Literacy Measurement Tool for Individuals With Chronic Airways Disease.

Low health literacy is a global challenge. Health literacy is positively correlated with chronic airways disease desirable outcomes. Despite the importance of health literacy in disease management, current health literacy measurement tools are suboptimal. As part of a multi-stage project to develop a performance-based, disease-specific Vancouver Airways Health Literacy Tool (VAHLT) for individuals with chronic airways disease, this study assessed the relationships between the VAHLT scores and characteristics of patients with chronic airways disease. The primary aim of the study was to provide preliminary evidence of construct validity of the VAHLT. A cross-sectional study design was applied. Study subjects were recruited from 6 specialty care clinics to complete the VAHLT measurement tool. Demographic and clinical data, including quality of life and disease control, were collected via validated questionnaires. The study subjects also completed a spirometry test. Inferential analysis was conducted by using mean difference testing and correlational methods. A total of 320 subjects were recruited, and, after imputing missing data, 315 were ultimately analyzed. The subjects were predominantly women (61%), white (83%), had a post-high-school education (74%), and a mean ± SD age of 65.2 ± 13.2 y. Age was significantly negatively correlated with the VAHLT scores (P = .004); the subjects with a post-high school education had significantly higher VAHLT scores than those with a high school education or less (P < .001). No significant sex or ethnicity related differences in VAHLT scores were observed. For clinical outcomes, no significant differences were found between the VAHLT scores and disease severity or measures of quality of life and asthma control. We report a chronic airways disease-specific health literacy measurement tool developed with the involvement of patients and professionals. Age and education were highly correlated with health literacy, which emphasizes the importance of addressing these factors in health literacy interventions among patients with chronic airways disease.

253-LB: Ethnic Differences in Pancreatic Hormone Secretion in Health and T2D

Purpose: We tested the hypothesis that a critical biologic determinant of T2D disparities is based on ethnicity-related differences in pancreatic islet function. Methods: Utilizing donor tissues from the NIDDK-funded Human Pancreas Analysis Program (HPAP) , we examined both insulin and glucagon secretion from nondiabetic and diabetic Caucasian and African American donor islets. Initially, a physiological amino acid mixture was used to stimulate glucagon secretion, followed by low and high glucose to stimulate insulin secretion and suppress glucagon secretion. During the high glucose step, IBMX (0.1 mM) is added to potentiate secretion of both hormones. Insulin and glucagon concentration in perifusates and islet extracts was measured by radioimmunoassay or ELISA. Statistical comparisons were drawn by repeated measures ANOVA. Results: Comparing nondiabetic islets, we observed overlapping insulin secretion profiles between both ethnicities; however, glucagon secretion was distinctly greater in both nondiabetic African American (+111%) islets compared to nondiabetic Caucasian islets, under all interventions. In T2D, the reduction in insulin secretion was significantly greater in African American T2D donors (high glucose -76%; IBMX -76%) compared to Caucasian T2D donors (high glucose -47%; IBMX -50%) . More strikingly, glucagon secretion in T2D donors was markedly different based on ethnicity. Whereas Caucasian T2D islets exhibited a similar baseline of glucagon secretion compared to Caucasian controls, there was a marked reduction of glucagon secretion overall in African American T2D donors (-70%) compared to their corresponding controls. The largest detected difference was in IBMX-potentiation of glucagon secretion, which is higher in Caucasian T2D donors (+103%) but significantly decreased in African American T2D donors (-76%) . Preliminary analysis of hormone content in a subset of the donor islet preparations revealed no differences according to ethnicity. Conclusions: We propose that ethnicity-related differences in nondiabetic islet function may contribute to the enhanced risk of T2D. Disclosure N. M. Doliba: None. M. Brissova: None. K. H. Kaestner: None. D. A. Stoffers: Other Relationship; Biomarin, Correlagen. J. Roman: None. A. V. Rozo: None. W. Qin: None. C. Liu: None. A. Naji: None. M. R. Rickels: Advisory Panel; Sernova, Corp., Vertex Pharmaceuticals Incorporated, Zealand Pharma A/S, Consultant; L-Nutra Inc. M. A. Atkinson: None. A. C. Powers: None. Funding This work is supported by 3UC4-112217-01S1 and U01-DK123594-02, UC4-DK-112217, UC4-DK-112232, and U01-DK-123716.

The Effects of Coping Strategies on Distress and Quality of Life among Jewish and Arab Mothers with a child diagnosed with cancer.

The study aim was to assess ethnicity-related differences in perceived threat and coping strategies used by Jewish and Arab mothers of pediatric cancer patients, and the effects of these strategies on the mothers' distress and quality of life. The sample consisted of 100 Arab and 97 Jewish mothers whose child was diagnosed with cancer and was being treated in an oncology unit. They completed questionnaires assessing demographic and illness variables; threat, task-oriented, emotion-oriented and avoidance-oriented coping; psychological distress; and quality of life. Arab mothers exhibited higher levels for all three coping strategies compared to Jewish mothers, but the highest difference was found for emotion-oriented coping. Task-oriented coping was related to lower distress levels and higher quality of life, whereas threat, emotion-oriented coping, and avoidance-oriented coping were related to higher distress and lower quality of life levels. Ethnicity moderated some of the effects of task-oriented and emotion-oriented coping on distress or quality of life. Ethnicity and coping strategy type are important in understanding the distress patterns and quality of life of mothers with a child diagnosed with cancer.

Global Alignment and Proportion (GAP) score in asymptomatic individuals: is it universal?

BACKGROUNDThe global alignment and proportion (GAP) score was established based on American and European subjects, which might limit its applicability to the Chinese population due to ethnicity-related difference of sagittal alignment. PURPOSETo analyze the applicability of GAP score in the Chinese population and to investigate the age- and gender-associated differences of spinopelvic and GAP score parameters. STUDY DESIGNA prospective cross-sectional radiographic study. PATIENTS SAMPLEOf 692 asymptomatic Chinese volunteers aged between 20 and 79 prospectively recruited between January 2017 and June 2019, 490 subjects were eventually included in this study. OUTCOME MEASURESThe pelvic incidence (PI), pelvic tilt (PT), sacral slope (SS), L1-S1 lordosis, L4-S1 lordosis, sagittal vertical axis (SVA), T1 pelvic angle (TPA) and global tilt (GT) were measured on lateral X-rays. The GAP scores and its parameters including relative pelvic version (RPV), relative lumbar lordosis (RLL), lordosis distribution index (LDI) and relative spinopelvic alignment (RSA) were calculated for each subject. METHODSSubjects were divided into four groups: Group 1M: male subjects <60 years old; Group 1F: female subjects <60 years old; Group 2M: male subjects ≥60 years old and Group 2F: female subjects ≥60 years old. The GAP scores and categories were determined and compared between groups. The results of sagittal alignment were compared with the previous studies evaluating the normative sagittal alignment in other populations. Univariate linear regression analysis was carried out between pelvic incidence (PI) and sacral slope (SS), lumbar lordosis (LL) and global tilt (GT) in each group. RESULTSThe distributions of GAP categories and the updated Roussouly classification were statistically different from other populations. Significantly different distribution of GAP categories was observed between Group 1M and Group 2M, Group 1F and Group 2F, and Group 1M and Group 1F. Radiographic measurements and GAP parameters were significantly different between Group 1M and Group 2M, and Group 1F and Group 2F. Gender-related difference of parameters was more prominent between Group 1M and Group 1F. Linear relationship of PI with SS, LL and GT were different from the regression models of “ideal” sagittal alignment in GAP score. CONCLUSIONSThe GAP score might be inappropriate in Chinese population due to ethnicity-related alignment difference. Worse feasibility of GAP score was observed in female and old subjects.

Plasma Oxylipin Profile Discriminates Ethnicities in Subjects with Non-Alcoholic Steatohepatitis: An Exploratory Analysis.

Non-alcoholic fatty liver disease (NAFLD) is a common liver pathology that includes steatosis, or non-alcoholic fatty liver (NAFL), and non-alcoholic steatohepatitis (NASH). Without a clear pathophysiological mechanism, it affects Hispanics disproportionately compared to other ethnicities. Polyunsaturated fatty acids (PUFAs) and inflammatory lipid mediators including oxylipin (OXL) and endocannabinoid (eCB) are altered in NAFLD and thought to contribute to its pathogenesis. However, the existence of ethnicity-related differences is not clear. We employed targeted lipidomic profiling for plasma PUFAs, non-esterified OXLs and eCBs in White Hispanics (HIS, n = 10) and Caucasians (CAU, n = 8) with biopsy-confirmed NAFL, compared with healthy control subjects (HC; n = 14 HIS; n = 8 CAU). NAFLD was associated with diminished long chain PUFA in HIS, independent of histological severity. Differences in plasma OXLs and eCBs characterized ethnicities in NASH, with lower arachidonic acid derived OXLs observed in HIS. The secondary analysis comparing ethnicities within NASH (n = 12 HIS; n = 17 CAU), confirms these ethnicity-related differences and suggests lower lipoxygenase(s) and higher soluble epoxide hydrolase(s) activities in HIS compared to CAU. While causes are not clear, these lipidomic differences might be with implications for NAFLD severity and are worth further investigation. We provide preliminary data indicating ethnicity-specific lipidomic signature characterizes NASH which requires further validation.

Differences in Postacute Rehabilitation Recommendations by Ethnicity at an Urban Comprehensive Stroke Center.

The aim of this study was to investigate differences in postacute rehabilitation discharge recommendations, actual disposition, and rehabilitation duration by ethnicity at an urban Joint Commission Comprehensive Stroke Center. This was a retrospective cohort study of adult acute stroke hospital admissions between January 1, 2016, and December 31, 2019 (n = 1717) who were discharged to home with or without outpatient therapy, inpatient rehabilitation facility, or skilled nursing facility (SNF). Lognormal and multinomial regressions were used to create statistical models evaluating ethnicity-related differences in discharge recommendation and disposition as well as rehabilitation duration while controlling for age, stroke type and severity, insurance type, and medical comorbidities; non-Hispanic white (NHW) patients served as the comparison group. Hispanic patients were less likely to have therapy recommendations of SNF, with a trend toward significance (P = 0.06), yet statistically more likely to have the actual disposition of SNF (P = 0.01) than NHW patients. There were no statistically significant differences comparing disposition rates for black and Asian patients to NHW patients for both inpatient rehabilitation facility and SNF. There was no statistically significant difference in rehabilitation duration for black or Hispanic patients compared with NHW patients. Hispanic patients were less likely to have therapy recommended SNF disposition, with a trend toward significance, but significantly more likely to have actual SNF disposition compared with NHW patients after acute stroke.

"As an ethnic minority, you just have to work twice as hard." Experiences and motivation of ethnic minority students in medical education.

IntroductionAdequate representation of ethnic minority groups in the medical workforce is crucial for ensuring equitable healthcare to diverse patient groups. This requires recruiting ethnic minority medical students and taking measures that enable them to complete their medical studies successfully. Grounded in self-determination theory and intersectionality, this paper explores the experiences of ethnic minority medical students across intersections with gender and other categories of difference and how these relate to students’ motivation.MethodsAn explorative, qualitative study was designed. Six focus groups were conducted with 26 ethnic minority students between December 2016 and May 2017. Thematic analysis was performed to identify, analyse and report themes within the data.ResultsThe findings were categorized into three main themes: the role of autonomy in the formation of motivation, including students’ own study choice and the role of their family; interactions/‘othering’ in the learning environment, including feelings of not belonging; and intersection of ethnic minority background and gender with being ‘the other’, based on ethnicity.DiscussionEthnic minority students generally do not have a prior medical network and need role models to whom they can relate. Ensuring or even appointing more ethnic minority role models throughout the medical educational continuum—for example, specialists from ethnic minorities in teaching and/or mentoring roles in the education—and making them more visible to students is recommended. Moreover, a culture needs to be created in the educational environment in which students and staff can discuss their ethnicity-related differences.Supplementary InformationThe online version of this article (10.1007/s40037-021-00679-4) contains supplementary material, which is available to authorized users.

Development, validation of a GC–MS method for the simultaneous measurement of amino acids, their PTM metabolites and AGEs in human urine, and application to the bi-ethnic ASOS study with special emphasis to lysine

A gas chromatography-mass spectrometry (GC–MS) method was developed and validated in relevant concentration ranges for the simultaneous measurement of l-lysine (Lys, L) and its Nε- and Nα-methylated (M), Nε- and Nα-acetylated (Ac), Nε-carboxymethylated (CM) and Nε-carboxyethylated (CE) metabolites in human urine. Analyzed Lys metabolites were the post-translational modification (PTM) products Nε-mono-, di- and trimethyllsine, Nε-MML, Nε-DML, Nε-TML, respectively, Nα-ML, Nε-AcL, Nα-AcL, and its advanced glycation end-products (AGEs) Nε-CML, Nε-CM-[2,4,4-2H3]Lys (d3-CML), Nε-CEL and furosine. AGEs of arginine (Arg) and cysteine (Cys) were also analyzed. De novo synthesized trideutero-methyl esters (R-COOCD3) from unlabelled amino acids and derivatives were used as internal standards. Native urine samples (10 µL aliquots) were evaporated to dryness under a stream of nitrogen. Analytes were esterified using 2 M HCl in methanol (60 min, 80 °C) and subsequently amidated by pentafluoropropionic anhydride in ethyl acetate (30 min, 65 °C). The generated methyl ester-pentafluoropropionyl (Me-PFP) derivatives were reconstituted in borate buffer and extracted immediately with toluene. GC–MS analyses were performed by split-less injection of 1-µL aliquots, oven-programmed separation and negative-ion chemical ionization (NICI). Mass spectra were generated in the scan mode (range, m/z 50–1000). Quantification was performed in the selected-ion monitoring (SIM) mode using a dwell time of 50 or 100 ms for each ion. The GC–MS method was suitable for the measurement of Lys and all of its metabolites, except for the quaternary ammonium cation Nε-TML. The Me-PFP derivatives of Lys, Arg and Cys and its metabolites eluted in the retention time window of 9 to 14 min. The derivatization of Nε-CML, d3-CML and Nε-CEL was accompanied by partial Nε-decarboxylation and formation of the Me-PFP Lys derivative. The lowest derivatization yield was observed for Nε-DML, indicating a major role of the Nε-DML group in Lys derivatization. The GC–MS method enables precise (relative standard deviation, RSD < 20%) and accurate (bias, < ± 20%) simultaneous measurement of 33 analytes in human urine in relevant concentration ranges. We used the method to measure the urinary excretion rates of Lys and its PTM metabolites and AGEs in healthy black (n = 39) and white (n = 41) boys of the Arterial Stiffness in Offspring Study (ASOS). No remarkable differences were found indicating no ethnic-related differences in PTM metabolites and AGEs except for Nε-monomethyllysine and S-(2-carboxymethylcysteine).

Ethnicity-specific alterations of plasma and hepatic lipidomic profiles are related to high NAFLD rate and severity in Hispanic Americans, a pilot study

Nonalcoholic fatty liver disease (NAFLD) is a progressive condition that includes steatosis (NAFL) and nonalcoholic steatohepatitis (NASH). In the U.S., Hispanics (HIS) are afflicted with NAFLD at a higher rate and severity compared to other ethnicities. To date, the mechanisms underlying this disparity have not been elucidated. In this pilot study, we compared untargeted plasma metabolomic profiles for primary metabolism, complex lipids, choline and related compounds between a group of HIS (n = 7) and White Caucasian (CAU, n = 8) subjects with obesity and biopsy-characterized NAFL to ethnicity-matched lean healthy controls (n = 14 HIS and 8 CAU). We also compared liver and plasma metabolomic profiles in a group of HIS and CAU subjects with obesity and NASH of comparable NAFLD Activity Scores, to BMI-matched NASH-free subjects in both ethnicities. Results highlight signs of metabolic dysregulation observed in HIS, independent of obesity, including higher plasma triglycerides, acylcarnitines, and free fatty acids. With NASH progression, there were ethnicity-related differences in the hepatic profile, including higher free fatty acids and lysophospholipids seen in HIS, suggesting lipotoxicity is involved in the progression of NASH. We also observed greater hepatic triglyceride content, higher plasma triglyceride concentrations and lower hepatic phospholipids with signs of impaired hepatic mitochondrial β-oxidation. These findings provide preliminary evidence indicating ethnicity-related variations that could potentially modulate the risk for progression of NALD to NASH.

Alzheimer's disease: a step closer to understanding type 3 diabetes in African Americans.

Alzheimer's disease (AD) is the fourth leading cause of death in the United States and the most common cause of adult-onset dementia. Recent results suggest an increased prevalence and severity in African Americans compared to Caucasians. Our understanding of the potential mechanism(s) underlying this ethnicity difference is limited. We previously described ethnicity-related differences in levels of neurodegenerative proteins and cytokines/chemokines in the BA21 region of African Americans and Caucasians with AD. Here, similar multiplex assays were used to examine those endpoints in patient postmortem cerebrospinal fluid (CSF). Additionally, we measured levels of C-peptide, ghrelin, gastric inhibitory polypeptide (GIP), glucagon-like peptide-1 (GLP-1), glucagon, insulin, leptin, PAI-1, resistin, and visfatin using a human diabetes 10-plex assay. The cytokine and chemokine assays revealed that levels of 26 chemokines or cytokines differed significantly with ethnicity, and three of those were significantly associated with gender. The neurodegenerative disease panel indicated that levels of soluble RAGE were significantly elevated in African Americans compared to Caucasians. All measures in the diabetes disease panel assay were significantly elevated in African Americans: ghrelin, GIP, GLP-1, glucagon, insulin, and visfatin. Through peripheral sample analysis, these results provide further evidence that ethnicity is critically involved in the manifestation of AD.

National and Global Ethnicity Differences in Non-alcoholic Fatty Liver Disease

Non-alcoholic fatty liver disease (NAFLD) remains a leading cause of chronic liver disease and a growing public health concern. This review aims to examine the reported national and international ethnicity differences in NAFLD. Prior studies have shown that Latino populations were disproportionately affected by both NAFLD and non-alcoholic steatohepatitis (NASH) in the USA compared to non-Latino White populations. Black and Asian Americans are reported to have a lower prevalence of NAFLD. Contributing factors for ethnic disparities may include socioeconomic factors, body fat distribution trends, genetic factors, and prevalence of associated disease states. Ethnic differences in NAFLD have been identified in the USA and internationally. The Latino population seems to have the highest prevalence of NAFLD in the USA, but ethnicity-related differences in disease characteristics and outcomes have yet to be fully elucidated.

PNPLA3 and TM6SF2 polymorphisms in Brazilian patients with nonalcoholic fatty liver disease.

BACKGROUNDNonalcoholic fatty liver disease (NAFLD) is becoming the most common chronic liver disease worldwide, with significant morbidity associated with nonalcoholic steatohepatitis (NASH). Genome-wide association studies demonstrated that the variants rs738409 C/G in the PNPLA3 and rs58542926 C/T in the TM6SF2 genes are determinants of inter-individual and ethnicity-related differences in hepatic fat content and NAFLD progression.AIMTo investigate PNPLA3 and TM6SF2 genotype frequency and their association with NAFLD development and progression in Brazilian patients.METHODSThis cross-sectional case-control study enrolled 285 individuals from the Gastroenterology and Hepatology clinics at a university hospital in Brazil. The case patients (n = 148) were confirmed to have NAFLD by the identification of hepatic steatosis on ultrasonography and exclusion of other causes of liver disease. According to the clinical protocol, patients underwent liver biopsy when at high risk for NASH and/or advanced fibrosis (n = 65). Steatohepatitis was confirmed in 54 patients. Individuals who did not have biopsy indication or NASH on histology were considered to have simple steatosis (n = 94). The control group (n = 137) was selected among patients that attended the Intestinal Disease clinic and was composed of subjects without abnormalities on abdominal ultrasonography and normal liver biochemical tests. All individuals underwent PNPLA3 and TM6SF2 genotype analysis. RESULTSPNPLA3 CC, CG and GG genotype frequencies were 37%, 44% and 19%, respectively, in NAFLD patients and were 58%, 31% and 10% in controls (P < 0.001). In a model adjusted for gender, age, body mass index and type 2 diabetes mellitus, the G allele increased the chance of NAFLD (OR = 1.69, 95%CI: 1.21-2.36, P = 0.002) and NASH (OR = 3.50, 95%CI: 1.84-6.64, P < 0.001). The chance of NASH was even higher with GG homozygosis (OR = 5.53, 95%CI: 2.04-14.92, P = 0.001). No association was found between G allele and the features of metabolic syndrome. In histological assessment, PNPLA3 genotype was not associated with steatosis grade, although GG homozygosis increased the chance of significant NASH activity (OR = 17.11, 95%CI: 1.87-156.25, P = 0.01) and fibrosis (OR = 7.42, 95%CI: 1.55-34.47, P = 0.01) in the same adjusted model. TM6SF2 CC, CT and TT genotype frequencies were 83%, 15% and 0.7%, respectively, in NAFLD patients and were 84%, 16% and 0.7% in controls (P = 0.78). The T allele presence was not associated with NAFLD or NASH, and was not associated with histological features.CONCLUSIONPNPLA3 may be involved in susceptibility and progression of NAFLD and NASH in the Brazilian population. More advanced histological liver disease was associated with the G allele. The TM6SF2 genetic variants were not associated with NAFLD susceptibility and progressive histological forms in the population studied, but further studies are required to confirm these findings.

Age-, sex- and ethnicity-related differences in body weight, blood pressure, HbA1c and lipid levels at the diagnosis of type 2 diabetes relative to people without diabetes

Aims/hypothesisThe aim of this work was to determine how weight patterns together with blood glucose, BP and lipids vary at diagnosis of diabetes by age, sex and ethnicity.MethodsUsing the UK Clinical Practice Research Datalink, we identified people with type 2 diabetes (n = 187,601) diagnosed in 1998–2015 and compared their weights, HbA1c, BP and lipid levels at diagnosis with age-matched people without diabetes (n = 906,182), by sex and ethnic group.ResultsYounger age at diagnosis was associated with greater adjusted mean difference (95% CI) in weight between those with vs without type 2 diabetes: 18.7 (18.3, 19.1) kg at age 20–39 years and 5.3 (5.0, 5.5) kg at age ≥ 80 years. Weight differentials were maximal in white women, and were around double in white people compared with South Asian and black people. Despite lower absolute values, BP differences were also greater at younger age of diabetes onset: 7 (6, 7) mmHg at age 20–39 years vs −0.5 (−0.9, −0.2) at age ≥ 80 years. BP differences were greatest in white people, and especially in women. Triacylglycerol level differences were greatest in younger men. Finally, HbA1c levels were also higher with younger onset diabetes, particularly in black people.Conclusions/interpretationAt diagnosis of type 2 diabetes, when compared with people without diabetes, weight and BP differentials were greater in younger vs older people, in women vs men and in white vs South Asian and black people. These differences were observed even though South Asian and black people tend to develop diabetes a decade earlier with either similar or greater dysglycaemia. These striking patterns may have implications for management and prevention.Graphical abstract

Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.

Newborn screening (NBS) programmes utilise information on a variety of clinical variables such as gestational age, sex, and birth weight to reduce false‐positive screens for inborn metabolic disorders. Here we study the influence of ethnicity on metabolic marker levels in a diverse newborn population. NBS data from screen‐negative singleton babies (n = 100 000) were analysed, which included blood metabolic markers measured by tandem mass spectrometry and ethnicity status reported by the parents. Metabolic marker levels were compared between major ethnic groups (Asian, Black, Hispanic, White) using effect size analysis, which controlled for group size differences and influence from clinical variables. Marker level differences found between ethnic groups were correlated to NBS data from 2532 false‐positive cases for four metabolic diseases: glutaric acidemia type 1 (GA‐1), methylmalonic acidemia (MMA), ornithine transcarbamylase deficiency (OTCD), and very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD). In the result, 79% of the metabolic markers (34 of 43) had ethnicity‐related differences. Compared to the other groups, Black infants had elevated GA‐1 markers (C5DC, Cohen's d = .37, P < .001), Hispanics had elevated MMA markers (C3, Cohen's d = .13, P < .001, and C3/C2, Cohen's d = .27, P < .001); and Whites had elevated VLCADD markers (C14, Cohen's d = .28, P < .001, and C14:1, Cohen's d = .22, P < .001) and decreased OTCD markers (citrulline, Cohen's d = −.26, P < .001). These findings correlated with the higher false‐positive rates in Black infants for GA‐1, in Hispanics for MMA, and in Whites for OTCD and for VLCADD. Web‐based tools are available to analyse ethnicity‐related changes in newborn metabolism and to support developing methods to identify false‐positives in metabolic screening.