South Asian Population Research Articles

Eurasiaplex-2: Shifting the focus to SNPs with high population specificity increases the power of forensic ancestry marker sets

To compile a new South Asian-informative panel of forensic ancestry SNPs, we changed the strategy for selecting the most powerful markers for this purpose by targeting polymorphisms with near absolute specificity – when the South Asian-informative allele identified is absent from all other populations or present at frequencies below 0.001 (one in a thousand). More than 120 candidate SNPs were identified from 1000 Genomes datasets satisfying an allele frequency screen of ≥ 0.1 (10 % or more) allele frequency in South Asians, and ≤ 0.001 (0.1 % or less) in African, East Asian, and European populations. From the candidate pool of markers, a final panel of 36 SNPs, widely distributed across most autosomes, were selected that had allele frequencies in the five 1000 Genomes South Asian populations ranging from 0.4 to 0.15. Slightly lower average allele frequencies, but consistent patterns of informativeness were observed in gnomAD South Asian datasets used to validate the 1000 Genomes variant annotations. We named the panel of 36 South Asian-specific SNPs Eurasiaplex-2, and the informativeness of the panel was evaluated by compiling worldwide population data from 4097 samples in four genome variation databases that largely complement the global sampling of 1000 Genomes. Consistent patterns of allele frequency distribution, which were specific to South Asia, were observed in all populations in, or closely sited to, the Indian sub-continent. Pakistani populations from the HGDP-CEPH panel had markedly lower allele frequencies, highlighting the need to develop a statistical system to evaluate the ancestry inference value of counting the number of population-specific alleles present in an individual.

South Asian youth mental health in Peel Region, Canada: Service provider perspectives.

The Peel Region of Toronto, Canada is home to over a third of the province's South Asian population. Youth are at a vulnerable time period in terms of their mental health. South Asian youth populations may face additional challenges to their mental health such as acculturative stress, intergenerational conflict, and racism and discrimination. This qualitative study set out to understand the mental health concerns and service access barriers experienced by South Asian youth populations in the Peel Region of Toronto, Canada from the perspective of mental health service providers. In-depth semi-structured interviews were carried out with mental health service providers (n = 22) who work with South Asian youth living in Peel Region. Thematic analysis was used to elucidate themes related to mental health stressors and service access barriers experienced by youth. According to mental health service providers, South Asian youth navigate a number of unique stressors related to the domains of culture, religion, and family dynamics, experiences of discrimination, the impact of migration, beliefs around mental illness and help-seeking, help-seeking trajectories and therapy recommendations, and lastly, sex differences. Mental health service providers outlined steps needed to effectively address the unique mental health challenges, best practice guidelines, and recommendations for working with South Asian youth, families, and communities to provide a practical and nuanced overview on how a multi-level strategy for mental health care can effectively meet the needs of South Asian youth populations.

Determinants of quality of life among people with dementia: evidence from a South Asian population

BackgroundDementia has become a public health priority along with population aging worldwide. Owing to its chronic progressive nature in the absence of a cure, maintaining the best possible quality of life (QOL) has become the desired outcome for people with dementia (PWD).AimThe current study aimed to determine the factors associated with ‘good QOL’ in people with dementia in the Sri Lankan setting.MethodsAn unmatched case–control study was conducted to identify the factors associated with ‘good QoL. Cases in the study included dementia patients having ‘good’ QOL, whereas controls were those having ‘poor’ or ‘average’ QOL. Both cases and controls were selected from the same patient base at a premier tertiary care state hospital in Colombo District, Sri Lanka. They were identified using the validated DEMQOL (Dementia Specific Quality of Life) tool, adhering to strict eligibility criteria. An interviewer-administered questionnaire was used to assess the associated factors. Bivariate analysis followed by logistic regression modelling determined the associated factors for ‘good QOL’ adjusted for confounders using odds ratio (OR) and 95% confidence interval (CI).ResultsThe study sample consisted of 64 cases and 208 controls. After adjusting for confounders, education up to GCE O/Level and above (OR = 4.02; 95% CI = 2.97, 12.0), ever employed (OR = 3.21; 95% CI = 1.59, 11.06), good social functioning (OR = 4.14; 95% CI = 3.39, 16.46), mild functional impairment (OR = 1.77; 95% CI = 1.13, 9.67), little or no caregiver burden (OR = 2.96; 95% CI = 1.86, 10.94), absence of apathy (OR = 2.22; 95% CI = 1.27, 12.48) and absence of irritability (OR = 2.17; 95% CI = 1.72, 10.34) were found to be significantly associated with ‘good QOL’. 60% of the variance of ‘good’ QOL among PWD was explained by the factors in the final model.Conclusions and recommendationsThe identified determinants of ‘good QOL’ clearly show how the QOL improvement interventions need to be planned. Accordingly, such programmes should be primarily focused on strategies to improve PWDs' ADL (Activities of Daily living), reduce and manage neuropsychiatric symptoms effectively and to promote activities enhancing social functioning, and plan programmes to address caregiver burden.

Inference of population structure and admixture proportion from Y chromosomal data of Chinese population.

In the past two decades, Y chromosome data has been generated for human population genetic studies. These Y chromosome datasets were produced with various testing methods and markers, thus difficult to combine them for a comprehensive analysis. In this study, we combine four human Y chromosomal datasets of Han, Tibetan, Hui, and Li ethnic groups. The dataset contains 27 microsatellites and 137 single nucleotide polymorphisms these populations share in common. We assembled a single dataset containing 2439 individuals from 25 nationwide populations in China. A systematic analysis of genetic distance and clustering was performed. To determine the gene flow of the studied population with worldwide populations, we modeled the ancestry informative markers. The reference panel was regarded as a mixture of South Asian (SAS), East Asian (EAS), European (EUR), African (AFR), and American (AMR) populations from 1000 Genomes data of Y chromosome using nonlinear data-fitting. We then calculated the admixture proportion of these four studied populations with 26 worldwide populations. The results showed that the Han and Hui have great genetic affinity, and Hui is the most admixed ethnic group, with 61.53% EAS, 34.65% SAS, 1.91% AFR, 1.56% AMR, and 0.04% EUR ancestry component (the AMR is highly admixed and thus should be ignored). All the other three ethnic groups contained more than 97% EAS ancestry component. The Li is the least admixed population in this study. The combined dataset in this study is the largest of this kind reported to date and proposes reference population data for use in future paternal genetic studies and forensic genealogical identification.

Race, Nation, and Diaspora in the Southern Caribbean: Unsettling the Ethnic Conflict Model

AbstractIn much of the southern Caribbean (i.e., Trinidad and Tobago and Guyana), ethno‐political tensions between numerically commensurable populations of South Asian and African diasporic populations have structured narratives of postcolonial conflict between an “African” and an “Indian” political party, setting the limits of national narratives. This article challenges this narrative on a number of points, drawing on oral histories and ethnographic research. I look at how the assumption of homogenous African and Indian groupings ignores important differences of class and political ideology that disrupt racial essentialism and create what I have called “altered solidarities.” I argue that dominant postcolonial frameworks of creole nationalism, state multiculturalism, and securitization in the Anglophone Caribbean have been unable to recognize these alternate solidarities in the region. [race, nationalism, diaspora, Caribbean, ethnic conflict]

Proposing new body mass index and waist circumference cut-offs based on cardiometabolic risks for a Central Asia population: A feasibility study.

BackgroundLower BMI cutoffs as compared to standard cut-offs have been recommended to reduce the risk of obesity-related co-morbidities in some ethnic populations (e.g. south Asian and Chinese populations). Recent attempts have also been made to establish ethnicity-specific BMI cutoffs to identify individuals affected with obesity in relation to type 2 diabetes risk in multi-ethnic populations based in the UK and North America. However, to date, there is yet to have any published work done to identify these cut-offs in Central Asia populations nor specify any difference for genders even though the fat distribution varies amongst the different ethnic groups as well as between the genders. To the best of the authors’ knowledge, this is the first study exploring new BMI and WC cut-offs in this population.MethodsTo address this gap, we used a database of secondary care electronic health records from the National Research Cardiac Surgery Center to identify BMI and waist circumference cutoffs for obesity based on the risk of developing diabetes and other cardiometabolic disorders among 297 adults in Kazakhstan. Bivariate and multivariable logistic regression analysis were utilized to investigate the relationships between risk factors and type 2 diabetes mellitus (T2DM). BMI and WC thresholds were predicted using the Youden index.ResultsFor an equivalent age-adjusted and sex-adjusted incidence of type 2 diabetes at a BMI of 30·0 kg/m2 in White populations, we found higher BMI cutoffs for Kazakhstani women (30.5 kg/m2) but lower cut-offs for men (28·9 kg/m2). As for waist circumference, the cut-off points for females were 95cm and 104 cm for males.ConclusionsFor Central Asia populations, the current recommended BMI and WC cutoffs may not be suitable and further work is needed to establish specific cut-offs for this population.

Surgery for Ulcerative Colitis in the White British and South Asian Populations in Selected Trusts in England 2001-2020: An Absence of Disparate Care and a Need for Specialist Centres.

Over the last decade, there has been extensive evidence that patients with inflammatory bowel disease from minority communities in the UK receive less than optimal care. In none of the studies has the role of surgery in the management of acute and severe ulcerative colitis been considered in any detail. A freedom of information (FOI) request was sent to 14 NHS Trusts in England, which serve significant South Asian populations. Details of the type of surgery patients from the South Asian and White British communities received between 2021 and 2020 were requested. Detailed responses were obtained from eight Trusts. Four hundred and ten White British patients underwent surgery for ulcerative colitis over this period at these eight Trusts, together with 67 South Asian patients. There was no statistically significant difference in the distribution across the types of surgery undergone by the two communities overall (χ2 = 1.3, ns) and the proportions who underwent an ileo-anal anastomosis with pouch (z = −1.2, ns). However, within individual trusts, at the University Hospital Southampton NHS Foundation Trust, a significantly greater proportion of South Asian patients had an ileo-anal anastomosis with pouch compared to White British patients. At Cambridge University Hospitals NHS Foundation Trust, all 72 patients who underwent surgery for ulcerative colitis were White British. This study has shown that, in general, for patients with a severe flare of ulcerative colitis where medical treatment has failed and surgery is warranted, the nature of the procedures offered is the same in the White British and South Asian communities. However, of concern is the number of units with low volume procedures. For most Trusts reported in this study, the overall number of Ileo-anal pouch anastomosis or anastomosis of ileum to anus procedures performed over a number of years was substantially below that required for a single surgeon to achieve competence. These findings reinforce the argument that inflammatory bowel disease surgery should be performed in a limited number of high-volume centres rather than across a wide range of hospitals so as to ensure procedures are carried out by surgeons with sufficient and on-going experience.

Generational perspective on asthma self-management in the Bangladeshi and Pakistani community in the United Kingdom: A qualitative study.

Self-management strategies improve asthma outcomes, although interventions for South Asian populations have been less effective than in White populations. Both self-management and culture are dynamic, and factors such as acculturation and generation have not always been adequately reflected in existing cultural interventions. We aimed to explore the perspectives of Bangladeshi and Pakistani people in the United Kingdom, across multiple generations (first, second and third/fourth), on how they self-manage their asthma, with a view to suggesting recommendations for cultural interventions. We purposively recruited Bangladeshi and Pakistani participants, with an active diagnosis of asthma from healthcare settings. Semi-structured interviews in the participants' choice of language (English, Sylheti, Standard Bengali or Urdu) were conducted, and data were analysed thematically. Twenty-seven participants (13 Bangladeshi and 14 Pakistani) were interviewed. There were generational differences in self-management, influenced by complex cultural processes experienced by South Asians as part of being an ethnic minority group. Individuals from the first generation used self-management strategies congruent to traditional beliefs such as 'sweating' and often chose to travel to South Asian countries. Generations born and raised in the United Kingdom learnt and experimented with self-management based on their fused identities and modified their approach depending on whether they were in familial or peer settings. Acculturative stress, which was typically higher in first generations who had migration-related stressors, influenced the priority given to asthma self-management throughout generations. The amount and type of available asthma information as well as social discussions within the community and with healthcare professionals also shaped asthma self-management. Recognizing cultural diversity and its influence of asthma self-management can help develop effective interventions tailored to the lives of South Asian people. Patient and Public Involvement colleagues were consulted throughout to ensure that the study and its materials were fit for purpose.

Composite carotid intima-media thickness as a risk predictor of coronary heart disease in a selected population in Sri Lanka.

Segment-specific variations of carotid intima-media thickness (CIMT) have not been assessed in South Asian populations. The purpose of this study was to determine if segment-specific CIMTs or a composite-CIMT score is a better risk predictor of coronary heart disease in South Asian populations. A comparative prospective study was conducted from November 2019 to October 2020 in a hospital in Colombo, Sri Lanka. Based on pre-defined inclusion and exclusion criteria, cases (having a diagnosis of Coronary Heart Disease (CHD), n = 338) and controls (non-CHD group, n = 356) were recruited. Ultrasound examination of the common carotid (CCA), the carotid bulb (CB) and the internal carotid segments (ICA) of the carotid vessels was conducted by a radiologist, and CIMTs were measured. A composite-CIMT score defined as the average value of all six segments of the left and right sides was derived. 694 participants were enrolled (male n = 399, 57.5%). The mean (±SD) age of the study sample was 60.2 (±9.86) years. There were variations in segment-specific values between the left and right vessels. The mean composite-CIMT value of the CHD group was significantly higher than that of the non-CHD group. A composite-CIMT score of 0.758 had a sensitivity of 98.4% and a specificity of 64.6% in distinguishing CHD from non-CHD groups (Area under the curve (AUC): 0.926). Carotid artery segment-specific CIMT variations were present in this population. The composite CIMT score is better than segment-specific CIMTs in predicting CHD and may be used to predict CHD in this population.

Recording of 'COVID-19 vaccine declined': a cohort study on 57.9 million National Health Service patients' records in situ using OpenSAFELY, England, 8 December 2020 to 25 May 2021.

BackgroundPriority patients in England were offered COVID-19 vaccination by mid-April 2021. Codes in clinical record systems can denote the vaccine being declined.AimWe describe records of COVID-19 vaccines being declined, according to clinical and demographic factors.MethodsWith the approval of NHS England, we conducted a retrospective cohort study between 8 December 2020 and 25 May 2021 with primary care records for 57.9 million patients using OpenSAFELY, a secure health analytics platform. COVID-19 vaccination priority patients were those aged ≥ 50 years or ≥ 16 years clinically extremely vulnerable (CEV) or ’at risk’. We describe the proportion recorded as declining vaccination for each group and stratified by clinical and demographic subgroups, subsequent vaccination and distribution of clinical code usage across general practices.ResultsOf 24.5 million priority patients, 663,033 (2.7%) had a decline recorded, while 2,155,076 (8.8%) had neither a vaccine nor decline recorded. Those recorded as declining, who were subsequently vaccinated (n = 125,587; 18.9%) were overrepresented in the South Asian population (32.3% vs 22.8% for other ethnicities aged ≥ 65 years). The proportion of declining unvaccinated patients was highest in CEV (3.3%), varied strongly with ethnicity (black 15.3%, South Asian 5.6%, white 1.5% for ≥ 80 years) and correlated positively with increasing deprivation.ConclusionsClinical codes indicative of COVID-19 vaccinations being declined are commonly used in England, but substantially more common among black and South Asian people, and in more deprived areas. Qualitative research is needed to determine typical reasons for recorded declines, including to what extent they reflect patients actively declining.

Influence of Overweight and Obesity on Morbidity and Mortality among Hospitalized Patients in Sri Lanka: A Single-Center Analysis.

Background Current evidence regarding the association between overweight and obesity and in-hospital morbidity and mortality is inconsistent and South Asian populations are underrepresented. Methods Data relevant to anthropometry, hospital outcomes, complications, and medical diagnoses of all acute medical admissions to the National Hospital of Sri Lanka were collected over a period of 3 months. Analysis was performed with WHO international (ICs) and Asian obesity cut-offs (ACs). Results Sample size was 2,128 (median age: 57 years [IQR: 42, 67], males: 49.7%). High prevalence of overweight (23.5%), generalized obesity (10.4%), central obesity (28.5%), and underweight (15.4%) was observed (ICs). Patients with either generalized or central obesity had significantly higher in-hospital mortality (4.8% versus 2.5%, p = 0.031) and acute kidney injury (AKI) (3.9% versus 1.2%) (p = 0.001) compared to normal weight. With ACs, overweight and obesity prevalence increased, without any significant increment in morbidity and mortality, but median length of hospital stay was significantly reduced in patients with generalized obesity compared to normal (3 [IQR: 2, 5] versus 4 [IQR: 2, 6], p = 0.014). Infections (44.4%) and cardiovascular diseases (CVDs) (25.9%) were the most common causes of admission. Overweight and generalized obesity or central obesity were associated with increased prevalence of acute CVDs and CVD risk factors and lower prevalence of acute infections, whilst underweight showed an inverse association. Conclusion A double burden of malnutrition and diseases were noted among hospital admissions, with obesity being a risk factor for in-hospital all-cause mortality and AKI. Overweight and obesity were associated with increased CVDs and reduced infections. Larger prospective studies are required to characterize these associations among South Asians.

Sequence analyses of Malaysian Indigenous communities reveal historical admixture between Hoabinhian hunter-gatherers and Neolithic farmers

Southeast Asia comprises 11 countries that span mainland Asia across to numerous islands that stretch from the Andaman Sea to the South China Sea and Indian Ocean. This region harbors an impressive diversity of history, culture, religion and biology. Indigenous people of Malaysia display substantial phenotypic, linguistic, and anthropological diversity. Despite this remarkable diversity which has been documented for centuries, the genetic history and structure of indigenous Malaysians remain under-studied. To have a better understanding about the genetic history of these people, especially Malaysian Negritos, we sequenced whole genomes of 15 individuals belonging to five indigenous groups from Peninsular Malaysia and one from North Borneo to high coverage (30X). Our results demonstrate that indigenous populations of Malaysia are genetically close to East Asian populations. We show that present-day Malaysian Negritos can be modeled as an admixture of ancient Hoabinhian hunter-gatherers and Neolithic farmers. We observe gene flow from South Asian populations into the Malaysian indigenous groups, but not into Dusun of North Borneo. Our study proposes that Malaysian indigenous people originated from at least three distinct ancestral populations related to the Hoabinhian hunter-gatherers, Neolithic farmers and Austronesian speakers.

Identifying signatures of natural selection in Indian populations.

In this study, we present the results of a genome-wide scan for signatures of positive selection using data from four tribal groups (Kokana, Warli, Bhil, and Pawara) and two caste groups (Deshastha Brahmin and Kunbi Maratha) from West of the Maharashtra State In India, as well as two samples of South Asian ancestry from the 1KG project (Gujarati Indian from Houston, Texas and Indian Telugu from UK). We used an outlier approach based on different statistics, including PBS, xpEHH, iHS, CLR, Tajima’s D, as well as two recently developed methods: Graph-aware Retrieval of Selective Sweeps (GRoSS) and Ascertained Sequentially Markovian Coalescent (ASMC). In order to minimize the risk of false positives, we selected regions that are outliers in all the samples included in the study using more than one method. We identified putative selection signals in 107 regions encompassing 434 genes. Many of the regions overlap with only one gene. The signals observed using microarray-based data are very consistent with our analyses using high-coverage sequencing data, as well as those identified with a novel coalescence-based method (ASMC). Importantly, at least 24 of these genomic regions have been identified in previous selection scans in South Asian populations or in other population groups. Our study highlights genomic regions that may have played a role in the adaptation of anatomically modern humans to novel environmental conditions after the out of Africa migration.

Future population transgress climatic risk boundaries of extreme temperature and precipitation

Anthropogenic climate change is influencing the frequencies of extreme weather events. Considering the adaptability to extreme climatic risks in the future, we focused on determining whether humans have been exposed to the risks before. We define the rim of two-dimensional histograms of population under 20-year extreme temperature and precipitation as a climatic risk boundary. More than 30% (16.3%) of world population in South Asia, sub-Saharan Africa, and other regions will transgress the climatic risk boundary by the end of this century under RCP8.5 (RCP2.6) scenario. While many areas with large cities will remain within the global climatic risk boundary, they will transgress their regional climatic risk boundaries. This study shows that it is also necessary to consider the limits to adaptation for each appropriate area, considering the cultural, technological, and social transferability of adaptation. This study will help refine public perceptions of extreme climatic risks and lead to more efficient policy making.

Incidence of Acetabular Dysplasia in Asymptomatic Sudanese Adults

Objectives: The overall aim of this study is to evaluate the incidence of acetabular dysplasia in asymptomatic Sudanese adults. Methods: This is a cross-sectional population-based study, which includes radiographic examination of the Hip. A total of 240 hips are studied in scout view which is routinely done in patients undergoing CT KUB. The morphology of acetabulum is assessed by measuring the center edge angle (CEA), acetabular angle, acetabular depth to width ratio. Results: The study shows that the mean center edge angle is 36.07° (SD±5.74°), 36.01° (SD ±3.37°) for the Rt and Lt hips respectively. Mean acetabular angle is 37.5° (SD±3.7°) for the Rt and 36.9° (SD±3.9°) for the Lt hip, mean depth to width ratio is 0.3 (SD±0.03) and .29 (SD±.03) for the both hips respectively. The CEA is dysplastic in 1.7%, the acetabular depth/width ratio in 19.2% and the acetabular angle in 0.8% of the hips. The study shows statistical significant relationship between male gender and abnormal acetabular angle. Also, there is statistical significant relationship between left side and center-edge angle dysplasia. Conclusions: the incidence of hip dysplasia in Sudanese population is found to be higher when compared to South Asian and Indian population and lower than Sami and other Asian population.

Trends in early onset colorectal cancer (EOCRC) in a South Asian cohort: data from a specialized tertiary care center in western Sri Lanka

Introduction: Early onset colorectal cancer [EOCRC] has significantly increased during the past decade globally. It is defined as cancers diagnosed in those aged 50 years or less. Most research on EORC are from western populations where the tumour biology and risk factors may differ from other regions. Evidence on EOCRC from the South Asian region is particularly scarce. This study presents the basic trends in presentation and overall survival [OS] pattern of EOCRC using data from a single specialized tertiary care institution over two decades. Methods: A total of 723 patients treated at the University surgical unit of the North Colombo teaching hospital from 1995 to 2020 were included in the analysis. Overall survival of the EOCRC was compared with that of the older population using Kaplan- Meier survival curves. Survival patterns over two time periods [pre-2010 vs post-2010] were also compared between the two populations. The stage at presentation, family history of colorectal or related cancers, tumour site, and tumour stage were also compared. Results: The proportion of EOCRC in this cohort has not shown a significant increase over the past two decades [2001-2010: 24% vs 2011-2020: 21%]. The advanced tumour stage at presentation and the presence of significant family history are also comparable. EOCRC cohort demonstrates a better OS for the entire study period [Median survival: < 50 years – not reached; >50 years – 91 months; 95%CI – 72-132; P<0.001]. However, this survival advantage is only observed during the pre-2010 period [Median survival: < 50 years – 160 months; 95%CI – 120 – not reached; >50 years – 84 months; 95%CI – 62-132; P=0.01] and becomes comparable in the 2010-2020 period [P=0.16]. OS of the EORC has not also improved over the two decades from 2001 to 2020 [P=0.51]. Conclusion: There is no significant increase in the EOCRC rates in this population over time although the rate has remained high throughout. The OS of the EOCRC population is better compared to the older population. A significantly better OS is observed during the pre-2010 period in the EOCRC but is not present in the post-2010 period. Advancement in therapy may have improved the survival of the older population during the latter part but not that in the EOCRC due to its inherently aggressive nature. This paper provides preliminary data on EOCRC from Sri Lanka. The South Asian population may have a different disease pattern with younger age at onset compared to the western populations and needs to be further explored.

Most frequently harboured missense variants of hACE2 across different populations exhibit varying patterns of binding interaction with spike glycoproteins of emerging SARS-CoV-2 of different lineages

Since the emergence of SARS-CoV-2 at Wuhan in the Hubei province of China in 2019, the virus has accumulated various mutations, giving rise to many variants. According to the combinations of mutations acquired, these variants are classified into lineages and greatly differ in infectivity and transmissibility. In 2021 alone, a variant of interest (VoI) Mu (B.1.621), as well as, variants of concern (VoC) Delta (B.1.617.2) and Omicron (BA.1, BA.2) and later in 2022, BA.4, BA.5, and BA.2.12.1 have emerged. Since then, the world has seen prominent surges in the rate of infection during short periods of time. However, not all populations have suffered equally, which suggests a possible role of host genetic factors. Here, we investigated the strength of binding of the spike glycoprotein receptor-binding domain (RBD) of the SARS-CoV-2 variants: Mu, Delta, Delta Plus (AY.1), Omicron sub-variants BA.1, BA.2, BA.4, BA.5, and BA.2.12.1 with the human angiotensin-converting enzyme 2 (hACE2) missense variants prevalent in major populations. In this purpose, molecular docking analysis, as well as, molecular dynamics simulation was performed of the above-mentioned SARS-CoV-2 RBD variants with the hACE2 containing the single amino acid substitutions prevalent in African (E37K), Latin American (F40L), non-Finnish European (D355 N), and South Asian (P84T) populations, in order to predict the effects of the lineage-defining mutations of the viral variants on receptor binding. The effects of these mutations on protein stability were also explored. The protein-protein docking and molecular dynamics simulation analyses have revealed variable strength of attachment and exhibited altered interactions in the case of different hACE2-RBD complexes. In vitro studies are warranted to confirm these findings which may enable early prediction regarding the risk of transmissibility of newly emerging variants across different populations in the future.

Clinical characteristics of patients presenting with the first-episode optic neuritis in a South Asian population: A study from Sri Lanka

The AMJ is a peer-reviewed, triannual health journal published by Anuradhapura Clinical Society (ACS).The Journal strives to be a forum for all health professionals to publish original research and review articles in their area of expertise. The AMJ publishes articles in clinical medicine, public health and health promotion. Our priority is given to manuscripts on health related issues which affects the communities living in rural tropical communities. Established as a journal in 2006 as a publication parallel to ACS annual scientific sessions, the journal was relaunched as a proper journal in 2013. Anuradhapura Medical Journal is a member of COPE and is included on DOAJ.

Frequency of Hereditary Hemochromatosis Gene (HFE) Variants in Sri Lankan Transfusion-Dependent Beta-Thalassemia Patients and Their Association With the Serum Ferritin Level.

IntroductionCo-inheritance of hereditary hemochromatosis (HFE) gene variants p. C282Y and p.H63D worsen iron overload in transfusion-dependent thalassemia. Data on the HFE gene variants in Sri Lankan patients with thalassemia have not been extensively studied. This study aimed to analyze the p.C282Y and p.H63D variants in transfusion-dependent beta (β) and HbE/β-thalassemia patients and establish an association between these variants and their serum ferritin levels.Materials and MethodsA total of 125 transfusion-dependent β-thalassemia major and HbE/β thalassemia patients were tested for the c.845G>A (p.C282Y) and c.187C>G (p.H63D) HFE gene variants using the multiplex Amplification Refractory Mutation System Polymerase Chain Reaction method. For phenotype-genotype correlation, serum ferritin levels, the erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP) levels were measured. The standard descriptive statistics were used for data analysis.ResultsThe study cohort consisted of transfusion-dependent 123 β-thalassemia and 2 HbE/β-thalassemia patients. The p.C282Y variant was not detected in any patient; allele frequency for the wild type (c.845GG) was 100%. Twenty-three patients were heterozygous for the p.H63D variant allele, and the allele frequencies were c.187CC 91.8%, c.187CG 9.2%, and c.187GG 0%. The mean serum ferritin level was relatively higher (mean level 4,987 ng/ml) in the p.H63D heterozygous (c.187CG) group compared to the wild type (c.187CC) group (mean level 4,571 ng/ml), but the difference was statistically not significant (p = 0.865). Among the total study population, CRP, ESR, and serum glutamine aspartate transaminase (SGPT) were elevated in 9 (7.2%), 65 (52%), and 82 (65.6%) patients, respectively. Among the p.H63D c.187CG group, elevated CRP, ESR, and SGPT were present in 5 (5%), 15 (12%), and 18 (14.4%) patients, respectively. The detected sample number was low to correlate with the confounding effect of inflammatory disorders and liver damage on the serum ferritin levels.ConclusionsThe HFE gene variant p.C282Y is unlikely to cause iron overload in the Asian β-thalassemia patients; the rarity of this variant in the study cohort replicates the findings of other South Asian population studies of this variant. The presence of the p.H63D variant could be a potential risk factor for iron overload in the β-thalassemia patients. A more extensive cohort study is required to validate this finding.

Waist to Height Ratio is a Better Predictor of Non-Alcoholic Fatty Liver Disease in the South Asian Population

Introduction: Numerous obesity indices have been developed that predict non-alcoholic fatty liver disease (NAFLD). We in our study aimed at evaluating a few of these tools including waist to height ratio (WHtR), waist circumferences (WC), body mass index (BMI) and fatty liver index (FLI) and used them to determine their ability in diagnosing NAFLD.
 Methods: This cross sectional study was conducted at the outpatients’ department of our hospital. NAFLD was diagnosed on the basis of ultrasound abdomen. Anthropometric parameters like Height (in), weight(cm), WC (cm), BMI, WHtR were calculated and later the FLI (comprising of BMI,WC, triglyceride and gamma glutamyl transferase) was calculated. The Receiver operating characteristic analysis (ROC) was then conducted to determine the discriminatory ability and related cut-off points and a P value of ≤0.05 was taken as statiscally significant.
 Results: A total of 300 participants were included and the prevalence of NAFLD was 44.8% in men and 54.8% in women. Univariate analysis reported statistical significant association of NAFLD with all of the applied indices (P = 0.00). The WHtR (AUC = 0.87, 95% CI:0.77-0.97) showed slight superior ability as compared to FLI (AUC = 0.86, 95% CI:0.76-0.97) in diagnosing NAFLD. Regression analysis revealed a stronger association of WHtR (OR = 9.3, P = 0.00) with NAFLD compared to FLI (OR = 6.0, P = 0.02).
 The performance of WHtR was similar regardless of gender (AUC = 0.89) while different in FLI with a AUC of 0.88 in men and AUC of 0.85 in female.
 Conclusion: This study showed a strong association of WHtR in prediction of NAFLD and a similar discriminatory ability regardless of gender. WHtR is simple and easily performable modality for NAFLD prediction.