Population Frequencies of the Triallelic 5HTTLPR in Six Ethnicially Diverse Samples from North America, Southeast Asia, and Africa
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Genetic differences between populations are potentially an important contributor to health disparities around the globe. As differences in gene frequencies influence study design, it is important to have a thorough understanding of the natural variation of the genetic variant(s) of interest. Along these lines, we characterized the variation of the 5HTTLPR and rs25531 polymorphisms in six samples from North America, Southeast Asia, and Africa (Cameroon) that differ in their racial and ethnic composition. Allele and genotype frequencies were determined for 24,066 participants. Results indicated higher frequencies of the rs25531 G-allele among Black and African populations as compared with White, Hispanic and Asian populations. Further, we observed a greater number of ‘extra-long’ (‘XL’) 5HTTLPR alleles than have previously been reported. Extra-long alleles occurred almost entirely among Asian, Black and Non-White Hispanic populations as compared with White and Native American populations where they were completely absent. Lastly, when considered jointly, we observed between sample differences in the genotype frequencies within racial and ethnic populations. Taken together, these data underscore the importance of characterizing the L-G allele to avoid misclassification of participants by genotype and for further studies of the impact XL alleles may have on the transcriptional efficiency of SLC6A4.
Keywords5HTTLPR Serotonin transporter rs25531 Hispanics Add health Population genetics Cameroon
This research uses data from the National Longitudinal Study of Adolescent to Adult Health, a program project directed by Kathleen Mullan Harris and designed by J. Richard Udry, Peter S. Bearman, and K.M.H. at the University of North Carolina at Chapel Hill, and funded by Grant P01 HD31921 from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, with cooperative funding from 23 other federal agencies and foundations. Special acknowledgment is due to Ronald R. Rindfuss and Barbara Entwisle for assistance in the original design. Information on how to obtain the National Longitudinal Study of Adolescent Health data files is available on the National Longitudinal Study of Adolescent to Adult Health Web site (http://www.cpc.unc.edu/addhealth). This research was also supported by Grants R01-HD057222 (Genes in Context Study); R01-DA020195 (Rochester Youth Development Study); R-581-000-117-101, R-581-000-099, R-581-000-090-101, R-581-000-083-101 and R-581-000-062-112 (Singapore Cardiovascular Study); P01-HD064687 (Family Transitions Project); 2P01-HL036587 to RBW and ICS; and the University of Colorado Butcher Foundation (Cameroon Sample).
Financial disclosures and Conflict of interest statement
Redford Williams holds a U.S. patent on 5HTTLPR L allele as a risk marker for CVD in persons exposed to chronic stress. Redford Williams is a founder and major stockholder in Williams LifeSkills, Inc., a company that develops, tests and markets behavioral products for stress and anger management.
Human and Animal Rights and Informed Consent
Written informated consent was obtained during each of the six studies utilizing Institutional Review Board approved protocols by the their respective Universities. All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all participants for being included in the study.
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