The Opportunities and Challenges of Integrating Population Histories Into Genetic Studies for Diverse Populations: A Motivating Example From Native Hawaiians

Overview

Journal Front Genet

Date 2021 Oct 14

PMID 34646295

Citations 6

Authors

Charleston W K Chiang

Affiliations

Soon will be listed here.

Abstract

There is a well-recognized need to include diverse populations in genetic studies, but several obstacles continue to be prohibitive, including (but are not limited to) the difficulty of recruiting individuals from diverse populations in large numbers and the lack of representation in available genomic references. These obstacles notwithstanding, studying multiple diverse populations would provide informative, population-specific insights. Using Native Hawaiians as an example of an understudied population with a unique evolutionary history, I will argue that by developing key genomic resources and integrating evolutionary thinking into genetic epidemiology, we will have the opportunity to efficiently advance our knowledge of the genetic risk factors, ameliorate health disparity, and improve healthcare in this underserved population.

Citing Articles

Evolution, genetic diversity, and health.

Palma-Martinez M, Posadas-Garcia Y, Shaukat A, Lopez-Angeles B, Sohail M Nat Med. 2025; .

PMID: 40055519 DOI: 10.1038/s41591-025-03558-1.

Native Hawaiian and Pacific Islander populations in genomic research.

Ha E, Shriner D, Callier S, Riley L, Adeyemo A, Rotimi C NPJ Genom Med. 2024; 9(1):45.

PMID: 39349931 PMC: 11442686. DOI: 10.1038/s41525-024-00428-6.

Imputation accuracy across global human populations.

Cahoon J, Rui X, Tang E, Simons C, Langie J, Chen M Am J Hum Genet. 2024; 111(5):979-989.

PMID: 38604166 PMC: 11080279. DOI: 10.1016/j.ajhg.2024.03.011.

The accuracy of polygenic score models for anthropometric traits and Type II Diabetes in the Native Hawaiian Population.

Lo Y, Chan T, Jeon S, Maskarinec G, Taparra K, Nakatsuka N medRxiv. 2024; .

PMID: 38234828 PMC: 10793530. DOI: 10.1101/2023.12.25.23300499.

Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection.

Dinh B, Tang E, Taparra K, Nakatsuka N, Chen F, Chiang C Hum Genet. 2023; 143(1):85-99.

PMID: 38157018 PMC: 10794367. DOI: 10.1007/s00439-023-02625-2.

References

Uren C, Hoal E, Moller M . Putting RFMix and ADMIXTURE to the test in a complex admixed population. BMC Genet. 2020; 21(1):40. PMC: 7140372. DOI: 10.1186/s12863-020-00845-3. View

Palamara P, Terhorst J, Song Y, Price A . High-throughput inference of pairwise coalescence times identifies signals of selection and enriched disease heritability. Nat Genet. 2018; 50(9):1311-1317. PMC: 6145075. DOI: 10.1038/s41588-018-0177-x. View

Chiang C, Mangul S, Robles C, Sankararaman S . A Comprehensive Map of Genetic Variation in the World's Largest Ethnic Group-Han Chinese. Mol Biol Evol. 2018; 35(11):2736-2750. PMC: 6693441. DOI: 10.1093/molbev/msy170. View

Skoglund P, Posth C, Sirak K, Spriggs M, Valentin F, Bedford S . Genomic insights into the peopling of the Southwest Pacific. Nature. 2016; 538(7626):510-513. PMC: 5515717. DOI: 10.1038/nature19844. View

Winkler C, Nelson G, Smith M . Admixture mapping comes of age. Annu Rev Genomics Hum Genet. 2010; 11:65-89. PMC: 7454031. DOI: 10.1146/annurev-genom-082509-141523. View

Madan A, Archambeau O, Milsom V, Goldman R, Borckardt J, Grubaugh A . More than black and white: differences in predictors of obesity among Native Hawaiian/Pacific Islanders and European Americans. Obesity (Silver Spring). 2012; 20(6):1325-8. PMC: 3346845. DOI: 10.1038/oby.2012.15. View

Maskarinec G, Erber E, Grandinetti A, Verheus M, Oum R, Hopping B . Diabetes incidence based on linkages with health plans: the multiethnic cohort. Diabetes. 2009; 58(8):1732-8. PMC: 2712787. DOI: 10.2337/db08-1685. View

Shriner D . Overview of Admixture Mapping. Curr Protoc Hum Genet. 2017; 94:1.23.1-1.23.8. DOI: 10.1002/cphg.44. View

Lohmueller K . The impact of population demography and selection on the genetic architecture of complex traits. PLoS Genet. 2014; 10(5):e1004379. PMC: 4038606. DOI: 10.1371/journal.pgen.1004379. View

10.

Kwan P, Briand G, Lee C, Lepule J, Llave K, Pang K . Reservations to Participate in Biospecimen Research among Pacific Islanders. Calif J Health Promot. 2018; 13(3):27-33. PMC: 5966275. View

11.

Claw K, Anderson M, Begay R, Tsosie K, Fox K, Garrison N . A framework for enhancing ethical genomic research with Indigenous communities. Nat Commun. 2018; 9(1):2957. PMC: 6063854. DOI: 10.1038/s41467-018-05188-3. View

12.

Mathieson I . Human adaptation over the past 40,000 years. Curr Opin Genet Dev. 2020; 62:97-104. PMC: 7484260. DOI: 10.1016/j.gde.2020.06.003. View

13.

Speidel L, Forest M, Shi S, Myers S . A method for genome-wide genealogy estimation for thousands of samples. Nat Genet. 2019; 51(9):1321-1329. PMC: 7610517. DOI: 10.1038/s41588-019-0484-x. View

14.

Visscher P, Wray N, Zhang Q, Sklar P, McCarthy M, Brown M . 10 Years of GWAS Discovery: Biology, Function, and Translation. Am J Hum Genet. 2017; 101(1):5-22. PMC: 5501872. DOI: 10.1016/j.ajhg.2017.06.005. View

15.

Asgari S, Luo Y, Akbari A, Belbin G, Li X, Harris D . A positively selected FBN1 missense variant reduces height in Peruvian individuals. Nature. 2020; 582(7811):234-239. PMC: 7410362. DOI: 10.1038/s41586-020-2302-0. View

16.

Mau M, Sinclair K, Saito E, Baumhofer K, Kaholokula J . Cardiometabolic health disparities in native Hawaiians and other Pacific Islanders. Epidemiol Rev. 2009; 31:113-29. PMC: 2893232. DOI: 10.1093/ajerev/mxp004. View

17.

Zhernakova A, Elbers C, Ferwerda B, Romanos J, Trynka G, Dubois P . Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection. Am J Hum Genet. 2010; 86(6):970-7. PMC: 3032060. DOI: 10.1016/j.ajhg.2010.05.004. View

18.

. The GenomeAsia 100K Project enables genetic discoveries across Asia. Nature. 2019; 576(7785):106-111. PMC: 7054211. DOI: 10.1038/s41586-019-1793-z. View

19.

Karczewski K, Francioli L, Tiao G, Cummings B, Alfoldi J, Wang Q . The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020; 581(7809):434-443. PMC: 7334197. DOI: 10.1038/s41586-020-2308-7. View

20.

Merriman T, Wilcox P . Cardio-metabolic disease genetic risk factors among Māori and Pacific Island people in Aotearoa New Zealand: current state of knowledge and future directions. Ann Hum Biol. 2018; 45(3):202-214. DOI: 10.1080/03014460.2018.1461929. View