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Population variation of LIN28B in the Mediterranean: Novel markers for microgeographic discrimination
Author(s) -
ÁlvarezÁlvarez Miguel M.,
CarrerasTorres Robert,
Zanetti Daniela,
Vegas Esteban,
Moral Pedro
Publication year - 2016
Publication title -
american journal of human biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.559
H-Index - 81
eISSN - 1520-6300
pISSN - 1042-0533
DOI - 10.1002/ajhb.22887
Subject(s) - biology , single nucleotide polymorphism , population , genetics , allele frequency , allele , genetic variation , genotype , evolutionary biology , demography , gene , sociology
Objectives The aim of this study is to determine whether the LIN28B gene is differentially distributed in the Mediterranean region through the analysis of the allele distribution of three single nucleotide polymorphisms (SNPs), namely rs7759938, rs314277, and rs221639, in 24 populations. These SNPs have been recently related to the age at menarche, pubertal height growth, peripubertal body mass index, levels of prenatal testosterone exposure, and cancer survival. Methods A total of 1,197 DNA samples were genotyped. The allele frequencies were used to determine the relationship between populations, with data from the 1000 Genomes Project being used for external comparisons. The genotype distributions and the population structure between populations and groups of populations were determined. Results The population results indicate a significant degree of variation ( F ST = 0.043, P < 0.0001). Allele frequencies show significant differences among populations. A hierarchical variance analysis is consistent with a primary differentiation between populations on the North and South coasts of the Mediterranean. This difference is especially evident in the unexpected distribution of the SNP rs221639, which shows one of the highest F ST (11.5%, P < 0.0001) values described in the Mediterranean region thus far. Conclusion The population differentiation and the structuring of the genetic variance, in agreement with previous studies, indicate that the SNPs in question are good tools for the study of human populations, even at a microgeographic level. Am. J. Hum. Biol. 28:905–912, 2016. © 2016Wiley Periodicals, Inc.