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

J Hum Genet. 2010 Sep;55(9):613-20. doi: 10.1038/jhg.2010.77. Epub 2010 Jun 24.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acquired Immunodeficiency Syndrome / genetics*
  • Alleles
  • CD24 Antigen / genetics
  • Chromosomes, Human, Y*
  • DEAD-box RNA Helicases / genetics*
  • Disease Progression
  • Genetic Variation
  • Genetics, Population
  • Haplotypes*
  • Humans
  • Male
  • Minor Histocompatibility Antigens
  • Phylogeny
  • Polymorphism, Single Nucleotide*
  • White People / genetics

Substances

  • CD24 Antigen
  • CD24 protein, human
  • Minor Histocompatibility Antigens
  • DDX3Y protein, human
  • DEAD-box RNA Helicases