South Asian Population Research Articles

Pharmacogenomic profiling of variants affecting efficacy and toxicity of anti-infective medicines in a south Asian population from Sri Lanka

BackgroundAnti-infective medicines are crucial for treating infections, but improper dosing can cause toxicity, resistance and treatment failure. Pharmacogenomics can address genetic variations affecting drug efficacy and safety. Despite the high burden of diseases like TB and HIV in Sri Lanka and South Asia, pharmacogenomic data for these populations are limited. This study aims to fill this gap by investigating pharmacogenomic variants in a South Asian population from Sri Lankan.MethodsPharmacogenomic data on anti-infective medicines were obtained from the PharmGKB database, selecting variants with evidence levels 1 A, 1B, 2 A, and 2B. Sri Lankan genetic data were sourced from an anonymized database of 670 Sri Lankans maintained by the Centre for Genetics and Genomics, Faculty of Medicine, University of Colombo. MAFs were compared between Sri Lankan sub-populations and global data from gnomAD, with statistical significance set at p < 0.05.ResultsMAFs of NAT2 gene rs1041983 and rs1799931 variants were, 43.7% (95%CI:41.1–46.4), 7.3% (95%CI:6.0-8.8), respectively. The UGT1A1 rs4148323 variant had a MAF of 3.5% (95%CI:2.6–4.6). In the CYP2B6 gene, 109 individuals were homozygous for the rs3745274 (poor metaboliser) variant, with a MAF of 39.6% (95%CI:37.0-42.3), while the rs34097093 and rs28399499 variants had no individuals homozygous for the variant (MAF: 0.2% [95%CI:0-0.5] (poor/intermediate metaboliser), and 0.1% [95%CI:0-0.4] (poor/intermediate metaboliser), respectively). The MAFs of the CYP2C19 rs12769205 (poor/intermediate metaboliser), rs4244285 (poor/intermediate metaboliser), rs3758581 (poor/intermediate metaboliser), and rs4986893 (poor/intermediate metaboliser) variants were 41.9% (95%CI:39.3–44.6), 41.9% (95%CI:39.2–44.7), 9.7% (95%CI:8.2–11.4), and 0.5% [(95%CI:0.2–1.1), respectively. Most variants showed significant differences compared to global populations, with some exhibiting higher frequencies, particularly when compared to Europeans. CYP2C19 rs12769205 and rs4244285 exhibited higher MAFs in Sri Lankans compared to both other South Asians and Europeans. The NAT2 rs1041983, NAT2 rs1799931, CYP2C19 rs4986893, CYP2C19 rs3758581, and CYP2B6 rs3745274 variants demonstrated significantly higher MAFs than in Europeans but not significantly different from South Asians.ConclusionThis preliminary study identifies variants in NAT2, UGT1A1, CYP2B6, and CYP2C19 genes relevant to the metabolism of anti-TB drugs, antiretrovirals, and voriconazole among Sri Lankans. Several variants, including CYP2C19 rs12769205 and rs4244285, showed higher MAFs, particularly in comparison to European populations, indicating potential differences in drug response. However, the nature of the study limits the ability to explore clinical correlations with the genotypes, therefore further research focusing on clinical correlation and functional validation is required.

Polycystic ovary syndrome: Criteria, phenotypes, race and ethnicity.

Polycystic ovary syndrome (PCOS) is a complex endocrinopathy, which leads to ovulation dysfunction and infertility, as well as metabolic and mental disorders. Women with PCOS exhibit several characteristic symptoms, with marked heterogeneity across different races and ethnicities. In this review, the author outlines the phenotypic disparities of PCOS among various racial and ethnic populations. First, the prevalence of major symptoms in different racial and ethnic groups with PCOS is summarized. Next, the effects of four phenotypes, derived from the Rotterdam criteria for PCOS, on metabolic and reproductive features are recapitulated. A growing body of evidence suggests that East Asian populations exhibit less hirsutism and adiposity compared with other groups. However, hirsutism is more prevalent in South Asian, Middle Eastern, and Hispanic populations. Hispanic and African American populations have more frequent obesity and insulin resistance. With regard to the association between mental disorders and racial and ethnic differences, limited studies exist; therefore, no conclusions can be drawn. Race and ethnicity-specific factors related to PCOS must be considered in clinical practice. The diagnostic criteria of PCOS should be specific to race and ethnicity to avoid missing treatment opportunities.

An integrated approach to predict genetic risk for Mosquito-Borne diseases in the local Population of Tehsil Haripur, Khyber Pakhtunkhwa, Pakistan

Highly variable response shown by individuals against mosquito-borne infections suggests that host genetic factors play an important role in determining mosquito-borne disease onset. Therefore, it is necessary to determine the genetic risk of these diseases in specific populations. The current study aimed to determine the percentage of individuals in the general population carrying mosquito-borne disease susceptibility and protection-related variants. This study initially aggregated mosquito-borne disease susceptibility and protection-related variants from all publically available data and literature. Afterward, the allele frequency was calculated 1009 genetic variants of 366 genes associated with susceptibility and protection to estimate the global prevalence in multiple ethnicities (Middle Eastern, Ashkenazi Jewish, European (Non-Finnish), Latino/Admixed American, South Asian, East Asian, European (Finnish), North Asian, Southeast Asian, African American, and Swedish population). Furthermore, the cumulative allele frequency of all susceptibility and protection-related variants was calculated in diverse ethnic groups and the relationship with mosquito-borne disease-associated morbidity and mortality was examined to determine whether results are consistent with founder effect in these populations. Two prioritized genetic variants of IL-10 (rs1800871) and FcγRIIA (rs1801274) were examined in the Tehsil Haripur population to assess the genetic risks linked to susceptibility and protection against mosquito-borne diseases. The findings of this study revealed overlapping genes most implicated in mosquito-borne disease linked with susceptibility and protection across different ethnic ancestries. In the available sample size, the percentage of TC and TT genotypes in IL-10 genetic variant (rs1800871) was 12% and 88%, respectively and GA and GG genotypes in FcγRIIA(rs1801274) genetic variant were 6% and 94% respectively. Based on statistical analysis, the percentage allele frequency of IL-10 (rs1800871) variant was 0.2112% and the FcγRIIA (rs1801274) variant is 0.1128% in the current study. Additionally, this study reflects that screening of genetic variants associated with susceptibility and protection in a population gives better insights into organizing public health awareness campaigns to control diseases.

DOP131 Multi-ancestry genome-wide association study reveals new associated loci and nominates disease relevant cell types and novel effector genes for Crohn’s disease and ulcerative colitis

Abstract Background Genome-wide association studies (GWAS) have identified 370 signals associated with inflammatory bowel disease (IBD) and its two main subtypes, Crohn’s disease (CD) and ulcerative colitis (UC). Revealing new association signals and the genes dysregulated by those significantly improves our biological understanding of the disease. However, nominating these genes remains challenging since they are predominantly located within the non-coding genome. Methods We performed a multi-ancestry GWAS meta-analysis of 67 cohorts, from European, East and South Asian populations. The final dataset comprised 125,992 IBD patients (59,734 with CD; 57,565 with UC) and &amp;gt;1.2M population controls. We ran fine-mapping (FM) analyses to define the most likely causal variants driving each signal. To investigate whether the associated variants are preferentially located at cell-type specific regulatory regions, and thus infer cell-disease susceptibility relationships, we ran heritability enrichment analysis integrating ATAC-seq and single cell (sc) ATACseq data from five studies. To nominate dysregulated genes, we combined cis expression QTL (eQTL) and sc-eQTL data for &amp;gt;30 relevant tissues and cell types via colocalization analyses; as well as two large protein QTL studies implementing mendelian randomization (MR). Results We identified 290 new independent disease signals. While most association signals are shared between CD and UC ~38% were subtype-specific. IBD susceptibility variants were significantly enriched within regulatory elements of blood and tissue resident T cells, macrophages, and B cells. In contrast, we observed a larger enrichment of UC variants, when compared to CD variants, in regulatory elements of intestinal epithelial cells. Combining FM, colocalization and MR, we prioritised 626 genes (Table). This set is enriched in well-established pairs of receptor-ligands, such as SERPINE1-ITGAV or VTN-PLAUR. Thirteen of the nominated genes have been previously linked to monogenic forms of IBD, such as CARD11, SHARPIN or IL10RB. Orthogonal lines of evidence provide further support for the effect (and the direction of effect) of the causal variant on disease susceptibility mediated through the molecular phenotype (Fig). For example, three novel risk signals (2 in CD, 1 in UC) mediate higher levels of expression of PDCD1, SELL, and MMP10, respectively. This was echoed by our MR analysis, which suggests that higher levels in serum of PDCD1 and SELL have a causal effect on CD-risk, and MMP10 on IBD-risk. Conclusion This study provides new insights into the cellular types by which genetic variants influence disease and nominates genes regulated by disease susceptibility variants, expanding the list of targets to prioritise for therapeutic interventions.

Sleep-Associated Traits and Hearing Difficulties in Noise: A Bidirectional Mendelian Randomization Study.

The aim of this study was to investigate the causal relationships between sleep-associated traits and hearing difficulties in noise (HDinN) by Mendelian randomization (MR) analysis. Single nucleotide polymorphisms associated with chronotype, insomnia, sleep duration, daytime dozing or sleeping, and ease of getting up in the morning were extracted from European population genome-wide association study pooled data for bidirectional MR analysis. The MR-Egger regression, the inverse variance weighted technique, and the weighted median method were used for data analysis. The study was then expanded to include South Asian, East Asian, African, and Greater Middle Eastern populations. MR analysis indicated that in European populations, ease of getting up in the morning is a protective factor for HDinN (odds ratio [OR] = 0.932, p = 4.22 × 10-5, pFDR = 5.62 × 10-4), while shorter sleep duration was a risk factor (undersleepers: OR = 1.164, p = 0.002, pFDR = 0.014). In addition, there was an indicative causal association between daytime dozing and HDinN (OR = 1.089, p = 0.046, pFDR = 0.123). The conclusions were consistent in African populations (ease of getting up: OR = 0.696, p = 0.012, pFDR = 0.041, sleep duration: OR = 0.677, p = 0.032 pFDR = 0.091, daytime dozing: OR = 1.164, p = 0.002, pFDR = 0.014). In the reverse direction, there was a significant causal association between HDinN and both chronotype (OR = 1.413, p = 0.011, pFDR = 0.042) and ease of getting up in the morning (OR = 0.668, p = 1.75 × 10-5, pFDR = 3.49 × 10-4) in European populations, with similar conclusions respectively reached in East Asian (OR = 1.085, p = 0.010, pFDR = 0.045) and African populations (OR = 0.936, p = 0.002, pFDR = 0.012). Furthermore, although not observed in European populations, exploratory studies in non-European populations suggested a potential association between insomnia and HDinN (East Asian: OR = 1.920, p = 0.011, pFDR = 0.043, African: OR = 2.080, p = 0.004, pFDR = 0.019, South Asian: OR = 1.981, p = 1.59 × 10-4, PFDR = 0.002, Greater Middle Eastern: OR = 2.394, p = 0.002, pFDR = 0.012), and vice versa (Greater Middle Eastern: OR = 1.056, p = 0.014, pFDR = 0.044). This study identified a potential bidirectional causal relationship between sleep-associated traits and HDinN. However, the underlying mechanisms of the causal relationships reported here have yet to be elucidated.

Retinal capillary density among healthy Egyptian and South Asian students: an optical coherence tomography angiography study.

To compare the macular and optic nerve perfusion and vascular architecture using optical coherence tomography angiography (OCTA) in normal eyes of Egyptian (Caucasians) and South Asian (Asians) volunteers. Cross-sectional analytical OCTA study performed on 90 eyes of South Asian (n=45) and Egyptians (n=45) were analyzed. All participants underwent best-corrected visual acuity test, slit lamp, and fundus examination. OCTA images; macular 6×6 mm2 grid and optic nerve 4.5×4.5 mm2 grid were used to examine the parafoveal and peripapillary regions, respectively. The mean capillary vessel density (CVD) in macular sectors among South Asians and Egyptians participants were (50.31%±2.53%, 51.2%±5.93%) and (49.71%±3.6%, 51.94%±4.79%) in superficial (SCP) and deep capillary plexuses (DCP), respectively (P>0.05). Mean CVD in both groups was higher in DCP compared to SCP in all sectors but was not significant (P>0.05). Mean foveal CVD increases with an increase in central retinal thickness in both SCP and DCP (P<0.001), among both groups. Mean area of the foveal avascular zone (FAZ) was 0.28±0.09 and 0.27±0.08 mm2 in South Asian and Egyptians, respectively. FAZ area decreases with an increase in the thickness and foveal CVD (P<0.001). Mean CVD in the peripapillary area was 48.23%±5.78% in South Asian and 49.52%±2.38% in Egyptian volunteers. The mean retinal nerve fiber layer thickness was found to be higher in the nasal quadrant among South Asian females than the Egyptian females (P<0.05). No significant racial disparity is found in this study. The findings are helpful for assessing and improving the normative data on the differences in South Asian and Egyptian populations.

Prognostic significance of lymph node ratio in esophageal squamous cell carcinoma: insights from the South Asian population

Prognostic significance of lymph node ratio in esophageal squamous cell carcinoma: insights from the South Asian population

Cardiovascular risk profiling among South Asian adults in Hong Kong: a latent class analysis

BackgroundSouth Asians living in urbanized settings are facing disproportionate cardiovascular burden largely attributable to modifiable risk factors. Given the rapid surge in South Asian population in Hong Kong, this study aims to identify and distinguish clusters of cardiovascular risk profiles among community-dwelling South Asian adults.MethodsBetween June 2022 and December 2023, 1181 South Asian adults were recruited through territory-wide outreach health assessments on lifestyle, psychological distress, obesity, clinical cardiovascular conditions, and sociodemographic factors. Latent class analysis was performed to classify the cardiovascular profiles, followed by multinomial logistic regression to identify the sociodemographic characteristics across classes.ResultsFive latent classes were identified: low risk (19.6%), lifestyle risk plus distress (8.9%), obesity risk (33.4%), lifestyle risk plus distress with obesity (26.6%), and high clinical risk (11.4%). Apart from the higher clinical risk in older adults, women tended to cluster into classes with obesity, while men and the economically active were more likely in classes with poorer lifestyles and stress. Pakistani and Nepalese consistently exhibited higher risks compared to Indians, whereas the less educated tended to cluster into the high clinical risk class.ConclusionThis study revealed distinct cardiovascular risk patterns and sociodemographic features within the South Asian community in Hong Kong. The heavy burden on obesity especially in women, lifestyle and psychological risks especially in men, and low overall physical activity level may be translated into a tremendous cardiovascular disease burden in the forthcoming decades, in particular among Pakistani and Nepalese as well as the socioeconomically disadvantaged.

Effectiveness of Mobile Health Applications for Cardiometabolic Risk Reduction in Urban and Rural India: A Pilot, Randomized Controlled Study.

mHealth technology has the potential to deliver personalized health care; however, data on cardiometabolic risk factors are limited. This study aims to assess the effectiveness of mobile health applications (apps) on cardiometabolic risk factor reduction in adults aged 25 to 60 years in urban and rural India. The study design was a pilot randomized controlled trial conducted in Tamil Nadu, India. Smartphone users (25-60 years) with basic literacy and at high risk of developing diabetes (Indian Diabetes Risk Score ≥30 and/or fasting blood sugar [FBS] 100-125 mg/dL) were recruited. Four mobile apps (two commercially available, two novel) for cardiometabolic risk reduction were evaluated. Primary outcome (weight loss) was analyzed using intention-to-treat analysis with post hoc analysis and logistic regression models adjusted for confounders. A total of 5264 participants were screened, and 610 were recruited into the study. Participants (7%) dropped out largely due to the COVID-19 pandemic. Data from 567 participants were used for the final analysis. In the intention-to-treat analysis, a significant reduction in body weight was observed in the intervention group as compared with control, more so in the urban (-2.40 kg, 95% confidence interval [CI] = [-3.10, -1.69], P < .001) compared with rural population (-1.19 kg, 95% CI = [-1.55, -0.82], P < .001). Intervention group participants showed significant reductions in body mass index, waist circumference, blood pressure, FBS, total serum cholesterol, and a positive effect on dietary and physical activity behaviors compared with controls. mHealth interventions can reduce diabetes risk, improve cardiometabolic health, and improve lifestyle behaviors in South Asian populations. The trial is registered with the Central Trials Registry, India (CTRI/2020/03/024327).

CYP2C19 and CES1 gene variants affecting clopidogrel metabolism in a South Asian population from Sri Lanka.

Clopidogrel exhibits substantial variability in therapeutic response, largely contributed by genetic factors. The pharmacogenomic variants data on clopidogrel metabolism in South Asians have been sparsely studied. This study explores the impact of CYP2C19 and CES1 gene variants on clopidogrel metabolism in Sri Lankans, revealing significant pharmacogenomic insights with broader implications for South Asians. Genotype data were filtered out from an anonymized database of 690 Sri Lankans, and minor allele frequencies (MAFs) were calculated. Five variants of CYP2C19 and one variant of CES1 gene were studied. Among the five CYP2C19 variants studied, rs12769205 (A>G) and rs4244285 (G>A) had the highest MAF of 42.1% and 42.0%, respectively. The CES1 variant rs71647871 (C>T) showed a MAF of 0.2%. Sri Lankans exhibited significantly higher MAFs for key variants compared to populations such as Europeans, African Americans, and East Asians (p < 0.05). Given that South Asians share genetic similarities, these findings suggest that a substantial proportion of the region's population may also be poor responders to clopidogrel, increasing the risk of adverse outcomes. This highlights the importance of genotype-guided antiplatelet therapy, which could improve clinical outcomes across South Asia amidst rising cardiovascular disease rates.

Unveiling Sociocultural Barriers to Breast Cancer Awareness Among the South Asian Population: Case Study of Bangladesh and West Bengal, India.

Bangladesh and West Bengal, India, are 2 densely populated South Asian neighboring regions with many socioeconomic and cultural similarities. In dealing with breast cancer (BC)-related issues, statistics show that people from these regions are having similar problems and fates. According to the Global Cancer Statistics 2020 and 2012 reports, for BC (particularly female BC), the age-standardized incidence rate is approximately 22 to 25 per 100,000 people, and the age-standardized mortality rate is approximately 11 to 13 per 100,000 for these areas. In Bangladesh, approximately 90% of patients are at stages III or IV, compared with 60% in India. For the broader South Asian population, this figure is 16%, while it is 11% in the United States and the United Kingdom.These statistics highlight the need for an urgent investigation into the reasons behind these regions' late diagnoses and treatment. Early detection is essential for managing BC and reducing its impact on individuals. However, raising awareness in diverse societies is challenging due to differing cultural norms and socioeconomic conditions. We aimed to interview residents to identify barriers to BC awareness in specific regions. We conducted semistructured interviews with 17 participants from West Bengal and Bangladesh through Zoom (Zoom Video Communications). These were later transcribed and translated into English for qualitative data analysis. All our participants were older than 18 years, primarily identified as female, and most were married. We have identified 20 significant barriers to effective BC care across 5 levels-individual, family, local society, health care system, and country or region. Key obstacles include neglect of early symptoms, reluctance to communicate, societal stigma, financial fears, uncertainty about treatment costs, inadequate mental health support, and lack of comprehensive health insurance. To address these issues, we recommend context-specific solutions such as integrating BC education into middle and high-school curricula, providing updates through media channels like talk shows and podcasts, promoting family health budgeting, enhancing communication at cultural events and religious gatherings, offering installment payment plans from health care providers, encouraging regular self-examination, and organizing statewide awareness campaigns. In addition, social media can be a powerful tool for raising mass awareness while respecting cultural and socioeconomic norms. Fighting BC or any fatal disease is challenging and requires support from various dimensions. However, studies showthat raising mass awareness is crucial for theearly detection of BC. By adopting a sensitive and well-informed approach, we aim to improve the early detection of BC and help reduce its impact on South Asian communities.

Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.

Neuronal ceroid lipofuscinoses (NCLs) are progressive, autosomal recessive lysosomal storage disorders primarily affecting children, marked by seizures, cognitive decline, motor regression, and visual impairment. Limited genetic data exist for South Asian populations, with most studies relying on enzymatic assays or electron microscopy. This study explores the genetic spectrum of NCL and genotype-phenotype correlations in a cohort from South India. A retrospective analysis was conducted on 56 genetically confirmed NCL patients diagnosed between January 2018 and June 2024 at a specialized neurological center in South India. Genetic analysis using next-generation sequencing (NGS) were performed, with variants classified as per ACMG guidelines. Clinical, electroencephalographic (EEG), imaging, and electron microscopy (EM) findings were reviewed, and genotype-phenotype correlations were analyzed. The cohort (33 males, 23 females) had a median age of onset of 36 months and a median disease duration of 65.5 months. Eight genetic subtypes were identified, with predominant mutations in TPP1 (19.64%), CLN6, MFSD8, and CLN8 (16.07% each). Seizures (75%), regression of milestones (87.5%), visual impairment (33.9%), and ataxia (57.1%) were common. EEG abnormalities were found in 76.3%, MRI revealed cerebellar atrophy in 89.13%, and thalamic T2 hypo-intensity in 91.3%. EM showed curvilinear and fingerprint profiles. Of the identified variants, 31 were previously reported, while 29 were novel. This is the largest single-center NCL cohort in South Asia, highlighting a diverse genetic spectrum and significant novel variants, underscoring the importance of genetic testing for diagnosis and future therapies.

The adaptation, implementation, and performance evaluation of Intake24, a digital 24-hour dietary recall tool for South Asian populations: The South Asia Biobank

The adaptation, implementation, and performance evaluation of Intake24, a digital 24-hour dietary recall tool for South Asian populations: The South Asia Biobank

Identification of genetic factors of type2 diabetes mellitus risk in South Asian populations.

Identification of genetic factors of type2 diabetes mellitus risk in South Asian populations.

Reconstructing the population history of theNicobarese.

The Nicobarese are the major tribal groups in the Nicobar district, situated south of the Andaman group of Islands. Linguistic phylogeny suggests that the linguistic ancestors of the Nicobarese settled the Nicobar archipelago in the early Holocene. So far, genetic research on them is low-resolution and restricted to the haploid DNA markers. Therefore, in the present analysis, we have used the high-resolution biparental (1554 published and 5 newly genotyped Nicobarese individuals) and uniparental genetic markers and looked at the genetic association of Nicobarese with the South and Southeast Asian populations. We report a common ancestral component shared among the Austroasiatic of South and Southeast Asia. Our analyses have suggested that the Nicobarese peoples retain this ancestral Austroasiatic predominant component in their genomes in the highest proportion. On the Southeast Asian mainland, the Htin Mal, who speak an Austroasiatic language of the Khmuic branch, represent a population that has preserved their ethnic distinctness from other groups over time and consequently shown the highest drift with the Nicobarese. The analysis based on haplotypes indicated a significant level of genomic segment sharing across linguistic groups, indicating an ancient broader distribution of Austroasiatic populations in Southeast Asia. Based on the temporal analyses of haploid DNA, it is suggested that the forebears of the Nicobarese people may have arrived on the Nicobar Islands in the last 5000 YBP. Therefore, among the modern populations, the Nicobarese peoples and the Htin Mal language community represent good genetic proxies for ancient Austroasiatics.

Circulating FGF21 is lower in South Asians compared with Europids with type 2 diabetes mellitus.

Inflammation contributes to the development of type 2 diabetes mellitus (T2DM). While South Asians are more prone to develop T2DM than Europids, the inflammatory phenotype of the South Asian population remains relatively unknown. Therefore, we aimed to investigate potential differences in circulating levels of inflammation-related proteins in South Asians compared with Europids with T2DM. In this secondary analysis of three randomized controlled trials, relative plasma levels of 73 inflammation-related proteins were measured using an Olink Target Inflammation panel and the serum fibroblast growth factor 21 (FGF21) concentration using an ELISA kit in Dutch South Asians (n = 47) and Dutch Europids (n = 49) with T2DM. Of the 73 inflammation-related proteins, the relative plasma levels of six proteins were higher (stem cell factor, caspase-8, C-C motif chemokine ligand 28, interferon-gamma, sulfotransferase 1A1 and cystatin D; q-value <0.05), while relative levels of six proteins were lower (FGF21, human fibroblast collagenase, interferon-8, C-C motif chemokine ligand 4, C-X-C motif chemokine ligand 6 and monocyte chemoattractant protein-1; q-value <0.05) in South Asians compared with Europids. Of these, the effect size of FGF21 was the largest, particularly in females. We validated this finding by assessing the FGF21 concentration in serum. The FGF21 concentration was indeed lower in South Asians compared with Europids with T2DM in both males (-42.2%; P < 0.05) and females (-58.5%; P < 0.001). Relative plasma levels of 12 inflammation-related proteins differed between South Asians and Europids with T2DM, with a significantly pronounced reduction in FGF21. In addition, the serum FGF21 concentration was significantly lower in South Asian males and females compared with Europids. Whether low FGF21 is an underlying cause or consequence of T2DM in South Asians remains to be determined. ClinicalTrials.gov (NCT01761318, registration date 20-12-2012; NCT02660047, registration date 21-03-2018; and NCT03012113, registration date 06-01-2017).

Parenting Styles and Attention Deficit Hyperactivity Disorder in the South Asian Population: A Narrative Review.

The relationship between cultural practices and mental health is particularly complex in diverse communities. Attention deficit hyperactivity disorder (ADHD), a prevalent neurodevelopmental condition, remains underdiagnosed and untreated in South Asian populations, often due to persistent stigmas and systemic barriers. While global awareness of ADHD is increasing, research examining its connection with parenting styles in South Asian families is limited. Cultural norms, societal expectations, and family dynamics unique to this group may influence how ADHD symptoms are perceived, managed, and addressed. This narrative review seeks to fill this gap by (i) identifying existing studies on ADHD and parenting styles in South Asians; (ii) exploring cultural and familial factors that may affect the expression of ADHD symptoms; and (iii) highlighting areas for future research to enhance understanding of ADHD in the South Asian community. By synthesizing these findings, this review aims to identify research gaps and inform future interventions and clinical practices tailored to the needs of South Asian families.

Digital Clock Assessment in South Asian Setting: Insights from the P‐CARRS study

AbstractBackgroundDetection of presymptomatic individuals or those with subtle cognitive changes in midlife may prevent or slow the course of Alzheimer's Disease by identifying candidates for disease‐modifying treatments. Utilizing newer delivery approaches involving digital measures shows promise for cognitive phenotyping, early detection, ease of administration, and scoring, particularly in low‐resource settings. However, the feasibility of these approaches, along with their association with demographics and their effectiveness in detecting fine‐grained aspects of cognitive performance in low‐resource settings, remains unclear. We conducted a pilot study evaluating digital cognitive screening using an iPad‐administered clock drawing test in a diverse South Asian population residing in India.MethodsIndividuals ≥ 50 years old (median: 61.0 years; range: 50‐89 years; female: 56%; education: up to primary schooling: 8%; high school to secondary: 65%; graduation and above: 27.4%) nested within the ongoing population‐based longitudinal Precision‐CARRS study representing socio‐demographically and linguistically diverse adults from Delhi and Chennai in India (n=300; 150/site) were studied. Participants were administered the FDA‐approved, iPad‐based clock drawing test using a commercially available Linus Health Digital Clock (DCTclock) screening tool. The DCTclock summary score, ranging from 0 to 100, was derived through AI analytics and provided various features, including drawing efficiency, information processing, simple motor skills, and visuospatial reasoning. Performance on the traditionally administered paper/pencil version of the Mini‐Cog test incorporating clock drawing and three‐item recall was used to classify participants as cognitively impaired (0‐2 points) or intact (3‐5 points).ResultsDCTclock was administered in ∼3‐4 minutes, and only 0.7% of clocks were unanalyzable due to missing components. Older age and lower education (p&lt;0.0001) were associated with worse DCTclock summary scores. There were no sex differences in performance (p=0.90). Compared to those cognitively intact based on the Mini‐Cog scores (n=252), the impaired group (n=48) performed significantly worse on the DCTclock summary score and spatial reasoning components (Table).ConclusionScreening for cognitive status using digital clock measurement is highly feasible and takes a short amount of time to administer in low‐resource settings. The DCTclock provides fine‐grained measures of performance not available on traditional paper/pencil measures, which may prove sensitive to early detection of cognitive impairment.

The Universal Set of 99 InDel Markers for Human Identification

The aim of this work was to select InDel markers sufficient for human identification and to create a routine method for their genotyping. We analyzed the allele distribution of all known InDels in European, East Asian, South Asian, African, and American populations and selected markers whose minor allele frequency, MAF, was ≥ 0.30. Thus, a set of 99 polymorphisms was formed with an average MAF for all five populations of 0.397 and a distance between markers of ≥3 million bp. The expected values of combined random match probability differ very little between the five superpopulations and are in the range of 1.44 × 10−41–3.68 × 10−41. For the genotyping of this set of markers, we have developed a method that includes single-step multiplex PCR followed by hybridization on a biochip. The average amplicon length was 72 bp. Aiming to verify the usefulness of 99 biallelic InDels in genetic identification and kinship testing, two phylogenetically distant populations were studied: Russian and Ecuadorian. For the Russian population, the combined random match probability was 2.09 × 10−40, and the combined power of exclusion, CPE, was 0.999999989. For the Ecuadorian population, the combined random match probability was 1.02 × 10−40, and the combined power of exclusion was 0.999999978. The proposed method is intended to become an alternative to human identification based on differences in the length of STR loci.

Uptake and experience of professional interpreting services in primary care in a South Asian population: a national cross-sectional study

BackgroundInterpreting services bridge language barriers that may prevent patients and clinicians from understanding each other, impacting quality of care and health outcomes. Despite this, there is limited up-to-date evidence regarding the barriers to and facilitators of uptake in primary care. The aim of this study was to ascertain current national uptake and experience of interpreting services in primary care (general practice) by South Asian communities in England.MethodsWe conducted a national cross-sectional survey in 2023 with people with limited or no English language proficiency (n = 609). Multilingual researchers interviewed people from Bangladeshi (n = 213), Indian (n = 200), and Pakistani (n = 196) backgrounds from four regions in England (Greater London, Midlands, Yorkshire and the Humber, North West).ResultsSixty-three percent of participants reported using professional interpreting services in primary care. The most common modality was face-to-face interpreting (55%), followed by telephone (17%) and video (8%). Multivariable analysis identified several correlates of lower uptake: participants from Indian backgrounds, those living in the Midlands, and those whose family member/friend interpreted for them within the past year were less likely to have used a professional interpreter provided by their general/family practice. Participants who had visited primary care within the last 12 months, had requested an interpreter but were told they could not have one, were informed about professional interpreting services, and were given choice in their language support were more likely to have used a professional interpreter.ConclusionsOur approach provides novel data on professional interpreting service use and evidence about the factors that may play a role in patient uptake and experience.