ArticleHuman molecular genetics2020
Population-specific reference panels are crucial for genetic analyses: an example of the CREBRF locus in Native Hawaiians.
Article in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 37 citations in OpenAlex.
- A scoping review on cardiometabolic risk factors among Pacific Island populations and implications on future research in the region.American journal of epidemiology · 2026Article
- Meta-analysis of over 8,000 individuals from Hawai'i and Samoa for genetic associations to cardiometabolic phenotypes.medRxiv : the preprint server for health sciences · 2026Article
- The accuracy of polygenic score models for BMI and Type II diabetes in the Native Hawaiian population.Communications biology · 2025Article
- A likelihood-based framework for demographic inference from genealogical trees.Nature genetics · 2025Article
- Native Hawaiian and Pacific Islander populations in genomic research.NPJ genomic medicine · 2024Review
- Imputation accuracy across global human populations.American journal of human genetics · 2024Article
- Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection.Human genetics · 2024Article
- Associations between fasting glucose rate-of-change and the missense variant, rs373863828, in an adult Samoan cohort.PloS one · 2024Article
- Tree-based QTL mapping with expected local genetic relatedness matrices.American journal of human genetics · 2023Article
- Digital Determinants of Health: Health data poverty amplifies existing health disparities-A scoping review.PLOS digital health · 2023Article
- Tree-based QTL mapping with expected local genetic relatedness matrices.bioRxiv : the preprint server for biology · 2023Article
- Multivariate analysis of a missense variant in CREBRF reveals associations with measures of adiposity in people of Polynesian ancestries.Genetic epidemiology · 2023Article
- Inverted genomic regions between reference genome builds in humans impact imputation accuracy and decrease the power of association testing.HGG advances · 2023Article
- Genetic alterations in CREBRF influence prostate cancer survival and impact prostate tissue homeostasis in mice.American journal of clinical and experimental urology · 2023Article
- Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders.Scientific reports · 2022Article
- A genealogical estimate of genetic relationships.American journal of human genetics · 2022Article
- Article
- Limited Metabolic Effect of the CREBRFCells · 2022Article
- Using population-specific add-on polymorphisms to improve genotype imputation in underrepresented populations.PLoS computational biology · 2022Article
- The CREBRF diabetes-protective rs373863828-A allele is associated with enhanced early insulin release in men of Māori and Pacific ancestry.Diabetologia · 2021Article
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Authors and funding
17 authors at 3 institutions in 1 country.
Funding
Abstract
Statistical imputation applied to genome-wide array data is the most cost-effective approach to complete the catalog of genetic variation in a study population. However, imputed genotypes in underrepresented populations incur greater inaccuracies due to ascertainment bias and a lack of representation among reference individuals, further contributing to the obstacles to study these populations. Here we examined the consequences due to the lack of representation by genotyping in a large number of self-reported Native Hawaiians (N = 3693) a functionally important, Polynesian-specific variant in the CREBRF gene, rs373863828. We found the derived allele was significantly associated with several adiposity traits with large effects (e.g. ~ 1.28 kg/m2 per allele in body mass index as the most significant; P = 7.5 × 10-5), consistent with the original findings in Samoans. Due to the current absence of Polynesian representation in publicly accessible reference sequences, rs373863828 or its proxies could not be tested through imputation using these existing resources. Moreover, the association signals at the entire CREBRF locus could not be captured by alternative approaches, such as admixture mapping. In contrast, highly accurate imputation can be achieved even if a small number (<200) of internally constructed Polynesian reference individuals were available; this would increase sample size and improve the statistical evidence of associations. Taken together, our results suggest the alarming possibility that lack of representation in reference panels could inhibit discovery of functionally important loci such as CREBRF. Yet, they could be easily detected and prioritized with improved representation of diverse populations in sequencing studies.
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