Daughter circumcision and maternal life satisfaction: a cultural moderation effect revealed across two multicountry studies.

INTRODUCTION: The present paper assessed the relationship between maternal life satisfaction (MLS) and the intergenerational transmission of female genital cutting (FGC, female circumcision). It was hypothesised that the association would be more strongly positive in countries in which FGC is more prevalent (ie, culturally normative), suggesting a practice that is socially reinforcing within sociocultural contexts in which it is common. METHODS: Across two studies with more than 85 000 participants in 15 African and Asian countries, mothers completed surveys reporting on their own FGC experiences and those of their daughters' and on their educational history and socioeconomic status. RESULTS: The association between MLS and daughter circumcision was weak but positive for the full sample. Contrary to predictions, in countries in which FGC is uncommon, it was more positively associated with MLS, and in countries in which it is common, it was weakly or negatively associated with MLS. CONCLUSION: Results are contrary to the notion that the intergenerational transmission of FGC is a function of happiness deriving from its cultural normativity. They suggest, instead, a diversity of social motives depending on cultural context. Customised messaging to reduce the intergenerational transmission of FGC is discussed.

Factors facilitating and hindering South Asian immigrant adults from engaging in exercise and physical activity - a qualitative systematic review.

BACKGROUND: Exercise and physical activity are key components of management in patients with rheumatic musculoskeletal diseases (RMD), but people of the South Asian communities have a lower level of engagement with these activities compared to their Caucasian counterparts. The aim of this qualitative systematic review was to determine the barriers and facilitators of exercise and physical activity in South Asian communities who have migrated and live in western countries, particularly in those who have RMD. METHODS: Qualitative studies, published in English between 1999 and 2021 and including evaluation of barriers and/or facilitators to exercise or physical activity behaviour in people of South Asian adult communities who have migrated and/or lived in western countries were identified from Embase, MEDLINE, CINAHL, PsycINFO, Google Scholar and manual searches. The studies were appraised using the CASP checklist. Inductive thematic synthesis was used to identify common and global themes. RESULTS: A total of 32 studies that discussed barriers and facilitators of physical activity in South Asian communities who have migrated and lived in western countries were used for this review but there were no studies identified that focussed specifically on those with RMD. Following appraisal of the reporting of the studies, 30 studies were included in the pooling of the results. The facilitators and barriers to physical activities were broadly categorized into 'extrinsic' and 'intrinsic' factors. Extrinsic factors such as 'opportunity' included environmental factors such as weather and safety; socioeconomic factors such as education, language and literacy, and support in the form of social, psychological and resources. Intrinsic factors included cultural factors, such as life stages and family influence, beliefs and knowledge, which impacted attitudes and skills. CONCLUSIONS: This review has synthesised evidence of barriers or facilitators and identified potentially modifiable factors influencing physical activity and exercise engagement, which could form the basis of evidence-based interventions to promote participation in healthy behaviour change. Provision of a safe, comfortable and culturally acceptable environment together with culturally-aligned cognitive strategies to facilitate acquisition of exercise-efficacy skills could help engagement. REGISTRATION: The systematic review was registered on PROSPERO, registration no. 289,235.

Network of large pedigrees reveals social practices of Avar communities.

From AD 567-568, at the onset of the Avar period, populations from the Eurasian Steppe settled in the Carpathian Basin for approximately 250 years1. Extensive sampling for archaeogenomics (424 individuals) and isotopes, combined with archaeological, anthropological and historical contextualization of four Avar-period cemeteries, allowed for a detailed description of the genomic structure of these communities and their kinship and social practices. We present a set of large pedigrees, reconstructed using ancient DNA, spanning nine generations and comprising around 300 individuals. We uncover a strict patrilineal kinship system, in which patrilocality and female exogamy were the norm and multiple reproductive partnering and levirate unions were common. The absence of consanguinity indicates that this society maintained a detailed memory of ancestry over generations. These kinship practices correspond with previous evidence from historical sources and anthropological research on Eurasian Steppe societies2. Network analyses of identity-by-descent DNA connections suggest that social cohesion between communities was maintained via female exogamy. Finally, despite the absence of major ancestry shifts, the level of resolution of our analyses allowed us to detect genetic discontinuity caused by the replacement of a community at one of the sites. This was paralleled with changes in the archaeological record and was probably a result of local political realignment.

Hepatitis B Prevalence and Risk Factors in Foreign-Born Asians and Pacific Islanders at a Federally Qualified Health Center in Hawai'i, 2015-2020.

The objective of this study was to estimate the prevalence of chronic hepatitis B infection in foreign-born Asians and Pacific Islanders at Kalihi-Palama Health Center in Honolulu, Hawai'i, and to assess the association between both chronic and resolved hepatitis B infection and risk factors such as household exposure to hepatitis B virus and geographic location of birthplace. The study involved cross-sectional data from 997 participants who accessed medical services at Kalihi-Palama Health Center between September 2015 and July 2020. The prevalence of chronic hepatitis B was 10.7%. On multivariable logistic regression analysis, the adjusted prevalence odds ratio of chronic hepatitis B infection was 3.3 times greater (95% confidence interval: 1.1, 9.2) for those who reported household contact with a person with hepatitis B infection than those who reported no such contact. No association was found with place of birth in this study population. Age was a significant predictor of chronic hepatitis B, with participants between 35-44 years of age having the highest prevalence. Age was also a significant predictor of resolved hepatitis B infection, with participants 65 years of age or older having the highest prevalence. These findings emphasize the need for targeted screening and appropriate follow-up-including vaccination or treatment-in this at-risk population.

The selection landscape and genetic legacy of ancient Eurasians.

The Holocene (beginning around 12,000 years ago) encompassed some of the most significant changes in human evolution, with far-reaching consequences for the dietary, physical and mental health of present-day populations. Using a dataset of more than 1,600 imputed ancient genomes1, we modelled the selection landscape during the transition from hunting and gathering, to farming and pastoralism across West Eurasia. We identify key selection signals related to metabolism, including that selection at the FADS cluster began earlier than previously reported and that selection near the LCT locus predates the emergence of the lactase persistence allele by thousands of years. We also find strong selection in the HLA region, possibly due to increased exposure to pathogens during the Bronze Age. Using ancient individuals to infer local ancestry tracts in over 400,000 samples from the UK Biobank, we identify widespread differences in the distribution of Mesolithic, Neolithic and Bronze Age ancestries across Eurasia. By calculating ancestry-specific polygenic risk scores, we show that height differences between Northern and Southern Europe are associated with differential Steppe ancestry, rather than selection, and that risk alleles for mood-related phenotypes are enriched for Neolithic farmer ancestry, whereas risk alleles for diabetes and Alzheimer's disease are enriched for Western hunter-gatherer ancestry. Our results indicate that ancient selection and migration were large contributors to the distribution of phenotypic diversity in present-day Europeans.

Ethnic differences in stroke outcomes in Aotearoa New Zealand: A national linkage study.

BACKGROUND: Ethnic differences in post-stroke outcomes have been largely attributed to biological and socioeconomic characteristics resulting in differential risk factor profiles and stroke subtypes, but evidence is mixed. AIMS: This study assessed ethnic differences in stroke outcome and service access in New Zealand (NZ) and explored underlying causes in addition to traditional risk factors. METHODS: This national cohort study used routinely collected health and social data to compare post-stroke outcomes between NZ Europeans, Maori, Pacific Peoples, and Asians, adjusting for differences in baseline characteristics, socioeconomic deprivation, and stroke characteristics. First and principal stroke public hospital admissions during November 2017 to October 2018 were included (N = 6879). Post-stroke unfavorable outcome was defined as being dead, changing residence, or becoming unemployed. RESULTS: In total, 5394 NZ Europeans, 762 Maori, 369 Pacific Peoples, and 354 Asians experienced a stroke during the study period. Median age was 65 years for Maori and Pacific Peoples, and 71 and 79 years for Asians and NZ Europeans, respectively. Compared with NZ Europeans, Maori were more likely to have an unfavorable outcome at all three time-points (odds ratio (OR) = 1.6 (95% confidence interval (CI) = 1.3-1.9); 1.4 (1.2-1.7); 1.4 (1.2-1.7), respectively). Maori had increased odds of death at all time-points (1.7 (1.3-2.1); 1.5 (1.2-1.9); 1.7 (1.3-2.1)), change in residence at 3 and 6 months (1.6 (1.3-2.1); 1.3 (1.1-1.7)), and unemployment at 6 and 12 months (1.5 (1.1-2.1); 1.5 (1.1-2.1)). There was evidence of differences in post-stroke secondary prevention medication by ethnicity. CONCLUSION: We found ethnic disparities in care and outcomes following stroke which were independent of traditional risk factors, suggesting they may be attributable to stroke service delivery rather than patient factors.

The sequences of 150,119 genomes in the UK Biobank.

Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over the past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome sequencing of large cohorts with rich phenotypic data1,2. Here we describe the analysis of whole-genome sequencing of 150,119 individuals from the UK Biobank3. This constitutes a set of high-quality variants, including 585,040,410 single-nucleotide polymorphisms, representing 7.0% of all possible human single-nucleotide polymorphisms, and 58,707,036 indels. This large set of variants allows us to characterize selection based on sequence variation within a population through a depletion rank score of windows along the genome. Depletion rank analysis shows that coding exons represent a small fraction of regions in the genome subject to strong sequence conservation. We define three cohorts within the UK Biobank: a large British Irish cohort, a smaller African cohort and a South Asian cohort. A haplotype reference panel is provided that allows reliable imputation of most variants carried by three or more sequenced individuals. We identified 895,055 structural variants and 2,536,688 microsatellites, groups of variants typically excluded from large-scale whole-genome sequencing studies. Using this formidable new resource, we provide several examples of trait associations for rare variants with large effects not found previously through studies based on whole-exome sequencing and/or imputation.

Model-informed assessment of ethnic sensitivity and dosage justification for Asian populations in the global clinical development and use of cladribine tablets.

Cladribine tablets have been approved in many countries for the treatment of patients with various forms of relapsing multiple sclerosis (MS). Cladribine has a unique pharmacokinetic/pharmacodynamic (PK/PD) profile with a short elimination half-life (~ 1 day) relative to a prolonged PD effect on specific immune cells (most notably a reversible reduction in B and T lymphocyte counts). This results in a short dosing schedule (up to 20 days over 2 years of treatment) to sustain efficacy for at least another 2 years. Global clinical studies were conducted primarily in White patients, in part due to the distinctly higher prevalence of MS in White patients. Given the very low prevalence in Asian countries, MS is considered as a rare disease there. In spite of the limited participation of Asian patients, to demonstrate favorable benefit/risk profile in the treatment of MS demanded application of a Totality of Evidence approach to assess ethnic sensitivity for informing regulatory filings in Asian countries and supporting clinical use of cladribine in Asian patients. Population PD modeling and simulation of treatment-related reduction in absolute lymphocyte count, as a mechanism-related biomarker of drug effect, confirmed consistent PDs in Asian and non-Asian patients with MS, supporting absence of ethnic sensitivity and a common dosage across populations. Through this example, we demonstrate the value of holistic integration of all available data using a model-informed drug development (MIDD) framework and a Totality of Evidence mindset to evaluate ethnic sensitivity in support of Asia-inclusive development and use of the drug across populations.

Asian perspective on NAFLD-associated HCC.

Recent data suggest that non-alcoholic fatty liver disease (NAFLD) has become a major public health problem in Asia, with an updated population prevalence of 34%. In parallel, NAFLD-associated hepatocellular carcinoma (HCC) is also on the rise. In this review, we describe the changing epidemiology of HCC in Asia over the past 30 years. While traditional risk factors for HCC (older age, male sex and metabolic factors) are also important in Asia, the PNPLA3 gene polymorphism is particularly prevalent in East Asia and may increase the risk of HCC. NAFLD among non-obese individuals is also commonly described in Asia. Because NAFLD is often undiagnosed, few patients receive HCC surveillance, and the target surveillance population beyond patients with cirrhosis remains poorly defined. As a result, NAFLD-associated HCC is often diagnosed at an advanced stage, rendering curative treatment impossible. Finally, despite around 20-30 years of universal vaccination, chronic HBV infection remains prevalent in Asia, and emerging evidence highlights the importance of metabolic factors and concomitant hepatic steatosis on HCC development in infected patients. Future studies should explore the role of metabolic treatments in HCC prevention among patients with hepatic steatosis and concomitant liver diseases.

Exome sequencing and analysis of 454,787 UK Biobank participants.

A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here we used exome sequencing1 to explore protein-altering variants and their consequences in 454,787 participants in the UK Biobank study2. We identified 12 million coding variants, including around 1 million loss-of-function and around 1.8 million deleterious missense variants. When these were tested for association with 3,994 health-related traits, we found 564 genes with trait associations at P ≤ 2.18 × 10-11. Rare variant associations were enriched in loci from genome-wide association studies (GWAS), but most (91%) were independent of common variant signals. We discovered several risk-increasing associations with traits related to liver disease, eye disease and cancer, among others, as well as risk-lowering associations for hypertension (SLC9A3R2), diabetes (MAP3K15, FAM234A) and asthma (SLC27A3). Six genes were associated with brain imaging phenotypes, including two involved in neural development (GBE1, PLD1). Of the signals available and powered for replication in an independent cohort, 81% were confirmed; furthermore, association signals were generally consistent across individuals of European, Asian and African ancestry. We illustrate the ability of exome sequencing to identify gene-trait associations, elucidate gene function and pinpoint effector genes that underlie GWAS signals at scale.

Acceptance of COVID-19 Vaccine Among Refugees in the United States.

OBJECTIVE: Little is known about COVID-19 vaccination intentions among refugee communities in the United States. The objective of this study was to measure COVID-19 vaccination intentions among a sample of refugees in the United States and the reasons for their vaccine acceptance or hesitancy. METHODS: From December 2020 through January 2021, we emailed or text messaged anonymous online surveys to 12 bilingual leaders in the Afghan, Bhutanese, Somali, South Sudanese, and Burmese refugee communities in the United States. We asked community leaders to complete the survey and share the link with community members who met the inclusion criteria (arrived in the United States as refugees, were aged ≥18, and currently lived in the United States). We compared the characteristics of respondents who intended to receive the COVID-19 vaccine with those of respondents who did not intend to receive the vaccine or were unsure. We then conducted crude and adjusted logistic regression analysis to measure the association between employment as an essential worker and COVID-19 vaccine acceptance. RESULTS: Of 435 respondents, 306 (70.3%) indicated that they planned to receive a COVID-19 vaccine. Being an essential worker (adjusted odds ratio [aOR] = 2.37; 95% CI, 1.44-3.90) and male sex (aOR = 1.87; 95% CI, 1.12-3.12) were significantly associated with higher odds of intending to receive a COVID-19 vaccine. Among respondents who intended to receive a COVID-19 vaccine, wanting to protect themselves (68.6%), family members (65.0%), and other people (54.3%) were the main reasons. CONCLUSION: Many refugees who responded to the survey, especially those who worked in essential industries, intended to receive a COVID-19 vaccine. Community organizations, health care providers, and public health agencies should work together to ensure that vaccine registration and vaccination sites are accessible to refugees.

The Relationship Between Intact Parathyroid Hormone and 25-Hydroxyvitamin D in United Kingdom Resident South Asians and Whites: A Comparative, Cross-Sectional Observational Study.

Ethnic differences in intact parathyroid hormone (iPTH) at similar total 25 hydroxyvitamin D [25(OH)D] concentrations have been reported between US resident Whites, Blacks, and Hispanics, but this has not been studied between South Asians and Whites. We, therefore, compared the iPTH relationship to 25(OH)D in UK resident South Asians and Whites. A comparative, cross-sectional observational study in which demographic and laboratory data on South Asian and White residents of Wolverhampton, UK were analyzed. Log-log models measured the association between 25(OH)D and the interaction term of ethnicity and iPTH. Seven hundred and seventy-two patients consisting of 315 white subjects (208 women) and 457 South Asian subjects (331 women) were studied. Compared to South Asians, White subjects were older, had higher serum concentrations of 25(OH)D, creatinine (lower eGFR), adjusted calcium and magnesium, but similar concentrations of iPTH and phosphate. In an adjusted model, variables significantly associated with 25(OH)D included age, creatinine, adjusted calcium and ethnicity; but not iPTH and the interaction term of ethnicity and iPTH (beta coefficient -0.071, 95% CI -0.209, 0.067, p=0.32). In our study cohort, iPTH was not, per se, influenced by 25 (OH)D. We found no ethnic differences in the association between iPTH and 25(OH)D between South Asians and White UK residents.

Cardio-metabolic outcomes in South Asians compared to White Europeans in the United Kingdom: a matched controlled population-based cohort study.

BACKGROUND: There appears to be an inequality in the risk of cardio-metabolic disease between those from a South Asian (SA) background when compared to those of White Europeans (WE) descendance, however, this association has not been explored in a large European cohort. This population-based open retrospective cohort explores the incidence of cardio-metabolic disease in those without pre-existing cardiometabolic disease taken from a large UK primary care database from 1st January 2007 to 31st December 2017. METHODS: A retrospective open cohort matched population-based study using The Health Improvement Network (THIN) database. The outcomes of this study were the incidences of cardio-metabolic events (type 2 diabetes mellitus, hypertension, ischemic heart disease, stroke, heart failure, and atrial fibrillation). RESULTS: A total of 94,870 SA patients were matched with 189,740 WE patients. SA were at an increased risk of developing: T2DM (adjusted hazard ratio (aHR) 3.1; 95% CI 2.97-3.23); HTN (1.34; 95% CI: 1.29-1.39); ischaemic heart disease (IHD) (1.81; 95% CI: 1.68-1.93) and heart failure (HF) (1.11; 95% CI: 1.003-1.24). However, they were at a lower risk of atrial fibrillation (AF) (0.53; 95% CI: 0.48-0.59) when compared to WE. Of those of SA origin, the Bangladeshi community were at the greatest risk of T2DM, HTN, IHD and HF, but were at the lowest risk of AF in when compared to Indians and Pakistanis. CONCLUSION: Considering the high risk of cardio-metabolic diseases in the SA cohort, differential public health measures should be considered in these patients to reduce their risk of disease, which may be furthered tailored depending on their country of origin.

Import and transmission of Mycobacterium orygis and Mycobacterium africanum, Norway.

BACKGROUND: The aim of the current study was to improve our understanding of the origins and transmission of Mycobacterium africanum (MAF) in Norway. METHODS: Whole-genome sequences (WGS) were generated for all (n = 29) available clinical isolates received at the Norwegian National Reference Laboratory for Mycobacteria (NRL) and identified as MAF in Norway, in the period 2010-2020. Phylogenetic analyses were performed. RESULTS: The analyses indicated several imports of MAF lineage 6 from both East and West African countries, whereas MAF lineage 5 was restricted to patients with West African connections. We also find evidence for transmission of MAF in Norway. Finally, our analyses revealed that a group of isolates from patients originating in South Asia, identified as MAF by means of a commercial line-probe assay, in fact belonged to Mycobacterium orygis. CONCLUSIONS: Most MAF cases in Norway are the result of import, but transmission is occurring within Norway.

Maternal region of origin and Small for gestational age: a cross-sectional analysis of Victorian perinatal data.

BACKGROUND: Being born small for gestational age is a strong predictor of the short- and long-term health of the neonate, child, and adult. Variation in the rates of small for gestational age have been identified across population groups in high income countries, including Australia. Understanding the factors contributing to this variation may assist clinicians to reduce the morbidity and mortality associated with being born small. Victoria, in addition to New South Wales, accounts for the largest proportion of net overseas migration and births in Australia. The aim of this research was to analyse how migration was associated with small for gestational age in Victoria. METHODS: This was a cross sectional population health study of singleton births in Victoria from 2009 to 2018 (n = 708,475). The prevalence of being born small for gestational age (SGA; <10th centile) was determined for maternal region of origin groups. Multivariate logistic regression analysis was used to analyse the association between maternal region of origin and SGA. RESULTS: Maternal region of origin was an independent risk factor for SGA in Victoria (p < .001), with a prevalence of SGA for migrant women of 11.3% (n = 27,815) and 7.3% for Australian born women (n = 33,749). Women from the Americas (aOR1.24, 95%CI:1.14 to 1.36), North Africa, North East Africa, and the Middle East (aOR1.57, 95%CI:1.52 to 1.63); Southern Central Asia (aOR2.58, 95%CI:2.50 to 2.66); South East Asia (aOR2.02, 95%CI: 1.95 to 2.01); and sub-Saharan Africa (aOR1.80, 95%CI:1.69 to 1.92) were more likely to birth an SGA child in comparison to women born in Australia. CONCLUSIONS: Victorian woman's region of origin was an independent risk factor for SGA. Variation in the rates of SGA between maternal regions of origin suggests additional factors such as a woman's pre-migration exposures, the context of the migration journey, settlement conditions and social environment post migration might impact the potential for SGA. These findings highlight the importance of intergenerational improvements to the wellbeing of migrant women and their children. Further research to identify modifiable elements that contribute to birthweight differences across population groups would help enable appropriate healthcare responses aimed at reducing the rate of being SGA.

Prevalence and Characteristics of Non-US-Born and US-Born Health Care Professionals, 2010-2018.

Importance: Immigration to the US results in greater racial/ethnic diversity. However, the contribution of immigration to the diversity of the US health care professional (HCP) work force and its contribution to health care are poorly documented. Objective: To examine the sociodemographic characteristics and workforce outcomes of non-US-born and US-born HCPs. Design, Setting, and Participants: This cross-sectional study used national US Census Bureau data on US-born and non-US-born HCPs from the American Community Survey between 2010 and 2018. Demographic characteristics and occupational data for physicians, advanced practice registered nurses, physician assistants, registered nurses, licensed practical nurses or licensed vocational nurses, and other HCPs were included for analysis. Data were analyzed between December 2020 and February 2021. Exposures: Nativity status, defined as US-born HCP vs non-US-born HCP (further stratified by <10 years or ≥10 years of stay in the US). Main Outcomes and Measures: Annual hours worked, proportion of work done at night, residence in medically underserved areas and populations, and work in skilled nursing/home health settings. Inverse probability weighting of 3 nativity status groups was carried out using logistic regression. F test statistics were used to test across-group differences. Data were weighted using American Community Survey sampling weights. Results: Of a total of 657 455 HCPs analyzed (497 180 [75.5%] women; mean [SD] age, 43.7 [13.0] years; 518 317 [75.6%] White, 54 233 [10.8%] Black, and 60 680 [9.6%] Asian), non-US-born HCPs (105 331 in total) represented 17.3% (95% CI, 17.2%-17.4%) of HCPs between 2010 and 2018. They were older (mean [SD] age, 44.7 [11.6] years) and had more education (75 227 [70.1%] HCPs completed college) compared with US-born HCPs (mean [SD] age, 43.4 [13.3] years; 304 601 [55.2%] completed college). Nearly half of non-US-born HCPs (47 735 [43.0%]) were Asian. In major metropolitan areas, non-US-born HCPs represented 40% or more of all HCPs. Compared with US-born HCPs, non-US-born HCPs with less than 10 years and 10 or more years of stay worked 32.3 hours (95% CI, 19.2 to 45.4 hours) and 71.6 hours (95% CI, 65.1 to 78.2 hours) more per year, respectively. Compared with US-born HCPs, non-US-born HCPs were more likely to reside in areas with shortages of health care professionals (estimated percentage: <10 years, 75.3%; ≥10 years, 62.8% vs US-born, 8.3%) and work in home health settings (estimated percentage: <10 years, 17.5%; ≥10 years, 13.1% vs US-born, 12.8%). Conclusions and Relevance: The contributions of non-US-born HCPs to US health care are substantial and vary by profession. Greater efforts should be made to streamline their immigration process and to harmonize training and licensure requirements.

Mitochondrial DNA Profiles of Individuals from a 12th Century Necropolis in Feldioara (Transylvania).

The genetic signature of modern Europeans is the cumulated result of millennia of discrete small-scale exchanges between multiple distinct population groups that performed a repeated cycle of movement, settlement, and interactions with each other. In this study we aimed to highlight one such minute genetic cycle in a sea of genetic interactions by reconstructing part of the genetic story of the migration, settlement, interaction, and legacy of what is today the Transylvanian Saxon. The analysis of the mitochondrial DNA control region of 13 medieval individuals from Feldioara necropolis (Transylvania region, Romania) reveals a genetically heterogeneous group where all identified haplotypes are different. Most of the perceived maternal lineages are of Western Eurasian origin, except for the Central Asiatic haplogroup C seen in only one sample. Comparisons with historical and modern populations describe the contribution of the investigated Saxon settlers to the genetic history of this part of Europe.

Clinical Profile and Health Disparities in a Multiethnic Cohort of Patients With Hypertrophic Cardiomyopathy.

BACKGROUND: Clinical studies of hypertrophic cardiomyopathy are over-represented by individuals of European ethnicity, with less known about other ethnic groups. We investigated differences between patients in a multiethnic Australian hypertrophic cardiomyopathy population. METHODS: We performed a retrospective cohort study of 836 unrelated hypertrophic cardiomyopathy probands attending a specialized clinic between 2002 and 2020. Major ethnic groups were European (n=611), East Asian (n=75), South Asian (n=58), and Middle Eastern and North African (n=68). The minor ethnicity groups were Oceanian (n=9), People of the Americas (n=7), and African (n=8). One-way ANOVA with Dunnett post hoc test and Bonferroni adjustment were performed. RESULTS: Mean age of the major ethnic groups was 54.9±16.9 years, and 527 (65%) were male. Using the European group as the control, East Asian patients had a lower body mass index (29 versus 25 kg/m2, P<0.0001). South Asians had a lower prevalence of atrial fibrillation (10% versus 31%, P=0.024). East Asians were more likely to have apical hypertrophy (23% versus 6%, P<0.0001) and Middle Eastern and North African patients more likely to present with left ventricular outflow tract obstruction (46% versus 34%, P=0.0003). East Asians were less likely to undergo genetic testing (55% versus 85%, P<0.0001) or have an implantable cardioverter-defibrillator implanted (19% versus 36%, P=0.037). East Asians were more likely to have a causative variant in a gene other than MYBPC3 or MYH7, whereas Middle Eastern and North African and South Asians had the highest rates of variants of uncertain significance (27% and 21%, P<0.0001). CONCLUSIONS: There are few clinical differences based on ethnicity, but importantly, we identify health disparities relating to access to genetic testing and implantable cardioverter-defibrillator use. Unless addressed, these gaps will likely widen as we move towards precision-medicine-based care of individuals with hypertrophic cardiomyopathy.