A thrifty variant in CREBRF strongly influences body mass index in Samoans
…, H Cheng, OD Buhule, J Lin, MS Reupena… - Nature …, 2016 - nature.com
Samoans are a unique founder population with a high prevalence of obesity 1 , 2 , 3 , making
them well suited for identifying new genetic contributors to obesity 4 . We conducted a …
them well suited for identifying new genetic contributors to obesity 4 . We conducted a …
[HTML][HTML] Multi-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing
Most transcriptome-wide association studies (TWASs) so far focus on European ancestry and
lack diversity. To overcome this limitation, we aggregated genome-wide association study (…
lack diversity. To overcome this limitation, we aggregated genome-wide association study (…
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies
…, LM Raffield, S Redline, AP Reiner, MS Reupena… - Nature …, 2023 - nature.com
Meta-analysis of whole genome sequencing/whole exome sequencing (WGS/WES) studies
provides an attractive solution to the problem of collecting large sample sizes for discovering …
provides an attractive solution to the problem of collecting large sample sizes for discovering …
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes
…, L Esera Tulifau, S Viali, MS Reupena… - Journal of Experimental …, 2022 - rupress.org
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 …
susceptibility to live attenuated vaccine and wild-type viruses. We report seven children …
[PDF][PDF] Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed
…, C Liu, RL Minster, T Naseri, M Nouraie, MS Reupena… - Cell Genomics, 2022 - cell.com
Genetic studies on telomere length are important for understanding age-related diseases.
Prior GWASs for leukocyte TL have been limited to European and Asian populations. Here, we …
Prior GWASs for leukocyte TL have been limited to European and Asian populations. Here, we …
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies
…, LM Raffield, S Redline, AP Reiner, MS Reupena… - Nature …, 2022 - nature.com
Large-scale whole-genome sequencing studies have enabled analysis of noncoding rare-variant
(RV) associations with complex human diseases and traits. Variant-set analysis is a …
(RV) associations with complex human diseases and traits. Variant-set analysis is a …
[HTML][HTML] Discordant association of the CREBRF rs373863828 A allele with increased BMI and protection from type 2 diabetes in Māori and Pacific (Polynesian) …
…, ST McGarvey, S Viali, T Naseri, M Sefuiva Reupena… - Diabetologia, 2018 - Springer
Aims/hypothesis The A (minor) allele of CREBRF rs373863828 has been associated with
increased BMI and reduced risk of type 2 diabetes in the Samoan populations of Samoa and …
increased BMI and reduced risk of type 2 diabetes in the Samoan populations of Samoa and …
Insights from a large-scale whole-genome sequencing study of systolic blood pressure, diastolic blood pressure, and hypertension
…, BM Snively, D Gu, ME Montasser, MS Reupena… - …, 2022 - Am Heart Assoc
Background: The availability of whole-genome sequencing data in large studies has enabled
the assessment of coding and noncoding variants across the allele frequency spectrum for …
the assessment of coding and noncoding variants across the allele frequency spectrum for …
[HTML][HTML] The impact of global and local Polynesian genetic ancestry on complex traits in Native Hawaiians
…, TF Chan, BL Dinh, T Naseri, MS Reupena… - PLoS …, 2021 - journals.plos.org
Epidemiological studies of obesity, Type-2 diabetes (T2D), cardiovascular diseases and
several common cancers have revealed an increased risk in Native Hawaiians compared to …
several common cancers have revealed an increased risk in Native Hawaiians compared to …
Evolutionary history of modern Samoans
Archaeological studies estimate the initial settlement of Samoa at 2,750 to 2,880 y ago and
identify only limited settlement and human modification to the landscape until about 1,000 to …
identify only limited settlement and human modification to the landscape until about 1,000 to …