Examination of disease-based selection, demographic history and population structure in European Y-chromosome haplogroup i

Efe Sezgin*, Alyssa Drosdak, Carl McIntosh, Bailey Kessing, James A. Lautenberger, James J. Goedert, John P. Phair, Jennifer L. Troyer, Michael W. Smith, Stephen J. O'Brien

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)613-620
Number of pages8
JournalJournal of Human Genetics
Volume55
Issue number9
DOIs
StatePublished - Sep 2010

Keywords

  • AIDS progression
  • CD24L4/DDX3Y
  • Y chromosome
  • population growth
  • population structure
  • selection

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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