Muagututi‘a Sefuiva Reupena
A5072574683- Genetic Associations and Epidemiology
- Obesity, Physical Activity, Diet
- Genomics and Rare Diseases
- Child Nutrition and Water Access
- Nutritional Studies and Diet
- Bioinformatics and Genomic Networks
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Epigenetics and DNA Methylation
- Lipid metabolism and disorders
- Birth, Development, and Health
- RNA modifications and cancer
- Nutrition, Genetics, and Disease
- Lipoproteins and Cardiovascular Health
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Cancer-related molecular mechanisms research
- Adipose Tissue and Metabolism
- Diet and metabolism studies
- Acute Myeloid Leukemia Research
- Telomeres, Telomerase, and Senescence
- Genetic and phenotypic traits in livestock
- Sleep and related disorders
- Global Public Health Policies and Epidemiology
- Metabolism, Diabetes, and Cancer
- Single-cell and spatial transcriptomics
- Obstructive Sleep Apnea Research
National University of Samoa
2016-2025
Wikimedia Eesti
2025
Yale University
2024
Providence College
2021
University of Cincinnati
2020
Human genetic studies support an inverse causal relationship between leukocyte telomere length (LTL) and coronary artery disease (CAD), but directionally mixed effects for LTL diverse malignancies. Clonal hematopoiesis of indeterminate potential (CHIP), characterized by expansion hematopoietic cells bearing leukemogenic mutations, predisposes both hematologic malignancy CAD. TERT (which encodes telomerase reverse transcriptase) is the most significantly associated germline locus CHIP in...
Genetic studies on telomere length are important for understanding age-related diseases. Prior GWASs leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study across ancestrally diverse individuals (European, African, Asian, Hispanic/Latino) from NHLBI Trans-Omics Precision Medicine (TOPMed) program. We used whole-genome sequencing (WGS) of whole blood variant genotype calling bioinformatic estimation in n = 109,122...
Blood lipids are heritable modifiable causal factors for coronary artery disease. Despite well-described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery lipid-associated alleles using whole genome sequencing (WGS), partly due to limited sample sizes, ancestral diversity, interpretation clinical significance. Among 66,329 ancestrally diverse (56% non-European) participants, we associate 428M variants from deep-coverage WGS with lipid levels; ~400M were not...
Globally, autosomal recessive IFNAR1 deficiency is a rare inborn error of immunity underlying susceptibility to live attenuated vaccine and wild-type viruses. We report seven children from five unrelated kindreds western Polynesian ancestry who suffered severe viral diseases. All the patients are homozygous for same nonsense variant (p.Glu386*). This allele encodes truncated protein that absent cell surface loss-of-function. The fibroblasts do not respond type I IFNs (IFN-α2, IFN-ω, or...
Most transcriptome-wide association studies (TWASs) so far focus on European ancestry and lack diversity. To overcome this limitation, we aggregated genome-wide study (GWAS) summary statistics, whole-genome sequences expression quantitative trait locus (eQTL) data from diverse ancestries. We developed a new approach, TESLA (multi-ancestry integrative using an optimal linear combination of statistics), to integrate eQTL dataset with multi-ancestry GWAS. By exploiting shared phenotypic effects...
Serum AMH levels in adult women are part of the diagnostic criteria for polycystic ovary syndrome (PCOS), a condition with marked infertility and metabolic risks. Yet, little is known about among from ethnic minority populations, especially its associations age obesity. The objective to describe association serum anti-mullerian hormone (AMH) Samoan women, provide specific reference levels, examine adiposity reproductive factors. A cross-sectional, retrospective study representative...
ABSTRACT Objective To describe the prevalence of obesity‐related noncommunicable diseases (NCDs) and associated risk factors in a sample Samoan adults studied 2010 as part genome‐wide assocation study (GWAS) for obesity related traits. Methods Anthropometric biochemical data collected from n = 3,475 participants ( 1,437 male; 2,038 female) aged 24.5 to <65 years were used obesity, diabetes, hypertension, dyslipidemia within sample. One way analysis variance, χ 2 tests, binary logistic...
Epidemiological studies of obesity, Type-2 diabetes (T2D), cardiovascular diseases and several common cancers have revealed an increased risk in Native Hawaiians compared to European- or Asian-Americans living the Hawaiian islands. However, there remains a gap our understanding genetic factors that affect health Hawaiians. To fill this gap, we studied at both chromosomal sub-chromosomal scales using genome-wide SNP array data on ~4,000 from Multiethnic Cohort. We estimated genomic proportion...
Abstract Objective Young children are particularly vulnerable to malnutrition as nutrition transition progresses. The present study aimed document the prevalence, coexistence and correlates of nutritional status (stunting, overweight/obesity anaemia) in Samoan aged 24–59 months. Design A cross-sectional community-based survey. Height weight were used determine prevalence stunting (height-for-age Z -score <−2) (BMI-for-age >+2) based on WHO growth standards. Anaemia was determined using...
Introduction: Over 40% of Samoans have at least one copy the minor A allele rs373863828 in CREB3 regulatory factor ( CREBRF), which is associated with increased BMI but decreased odds type 2 diabetes mellitus. The mechanisms underlying this paradoxical effect remain unknown. We hypothesized that gut microbiota may play a role and examined associations between CREBRF genotype microbial diversity composition among Samoan infants. Methods: Fecal samples were collected from infants aged 0...
Archaeological studies estimate the initial settlement of Samoa at 2,750 to 2,880 y ago and identify only limited human modification landscape until about 1,000 1,500 ago. At this point, a complex history migration is thought have begun with arrival people sharing ancestry Near Oceanic groups (i.e., Austronesian-speaking Papuan-speaking groups), was then followed by non-Oceanic during European colonialism. However, specifics peopling are not entirely clear from archaeological anthropological...
Background: The epithelial Na + channel (ENaC) is intrinsically linked to fluid volume homeostasis and blood pressure. Specific rare mutations in SCNN1A , SCNN1B SCNN1G genes encoding the α, β, γ subunits of ENaC, respectively, are associated with extreme pressure phenotypes. No associations between SCNN1D which encodes δ subunit have been reported. A small number sequence variants ENaC reported affect functional transport vitro or effects vast majority low-frequency on not known. Methods:...
Mutations in the short-chain enoyl-CoA hydratase (SCEH) gene, ECHS1, cause a rare autosomal recessive disorder of valine catabolism. Patients usually present with developmental delay, regression, dystonia, feeding difficulties, and abnormal MRI bilateral basal ganglia involvement. We clinical, biochemical, molecular, functional data for four affected patients from two unrelated families Samoan descent identical novel compound heterozygous mutations. Family 1 has three boys while 2 an...
Abstract Objectives Studies have demonstrated that rs373863828, a missense variant in CREBRF , is associated with number of anthropometric traits including body mass index (BMI), obesity, percent fat, hip circumference, and abdominal circumference. Given the biological relationship between height adiposity, we hypothesized effect this on BMI might be due part to an association height. Methods We tested hypothesis minor allele rs373863828 Samoan population two adult cohorts separate cohort...
Background The prevalence of obesity and diabetes in Samoa, like many other Pacific Island nations, has reached epidemic proportions. Although the etiology these conditions can be largely attributed to rapidly changing economic nutritional environment, a recently identified genetic variant, rs373863828 (CREB 3 regulatory factor, CREBRF: c.1370G>A p.[R457Q]) is associated with increased odds obesity, but paradoxically, decreased diabetes. Objective overarching goal Soifua Manuia (Good...
Abstract Objective Among young Samoan children, diet may not be optimal: in 2015, 16·1 % of 24–59-month-olds were overweight/obese, 20·3 stunted and 34·1 anaemic. The present study aimed to identify dietary patterns among 24–59-month-old children evaluate their association with: (i) child, maternal household characteristics; (ii) nutritional status indicators (stunting, overweight/obesity, anaemia). Design A community-based, cross-sectional study. Principal component analysis on 117 FFQ...
Ever larger Structural Variant (SV) catalogs highlighting the diversity within and between populations help researchers better understand links SVs disease. The identification of from DNA sequence data is non-trivial requires a balance comprehensiveness precision. Here we present catalog 355,667 (59.34% novel) across autosomes X chromosome (50bp+) 138,134 individuals in diverse TOPMed consortium. We describe our methodologies for SV inference resulting high variant quality >90% allele...