|Title||Examination of disease-based selection, demographic history and population structure in European Y-chromosome haplogroup I|
|Publication Type||Journal Article|
|Year of Publication||2010|
|Authors||Sezgin, E, Drosdak, A, McIntosh, C, Kessing, B, Lautenberger, JA, Goedert, JJ, Phair, JP, Troyer, JL, Smith, MW, O'Brien, SJ|
|Journal||Journal of Human Genetics|
|Keywords||2010-09-30, disease, europe, hiv, holocene, recent, selection, Y chromosome|
We attempted to refine the understanding of an association of Y-chromosomal haplogroup I (hg-I) with enhanced AIDS progression that had been previously reported. First, we compared the progression phenotype between hg-I and its phylogenetically closest haplogroup J. Then, we took a candidate gene approach resequencing DDX3Y, a crucial autoimmunity gene, in hg-I and other common European Y-chromosome haplogroups looking for functional variants. We extended the genetic analyses to CD24L4 and compared and contrasted the roles of disease-based selection, demographic history and population structure shaping the contemporary genetic landscape of hg-I chromosomes. Our results confirmed and refined the AIDS progression signal to hg-I, though no gene variant was identified that can explain the disease association. Molecular evolutionary and genetic analyses of the examined loci suggested a unique evolutionary history in hg-I, probably shaped by complex interactions of selection, demographic history and high geographical differentiation leading to the formation of distinct hg-I subhaplogroups that today are associated with HIV/AIDS onset. Clearly, further studies on Y-chromosome candidate loci sequencing to discover functional variants and discern the roles of evolutionary factors are warranted.
Examination of disease-based selection, demographic history and population structure in European Y-chromosome haplogroup I
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