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

  1. Author:
    Sezgin, E.
    Drosdak, A.
    McIntosh, C.
    Kessing, B.
    Lautenberger, J. A.
    Goedert, J. J.
    Phair, J. P.
    Troyer, J. L.
    Smith, M. W.
    O'Brien, S. J.

  2. Author Address

    [Sezgin, Efe; Drosdak, Alyssa; McIntosh, Carl; Lautenberger, James A.; O'Brien, Stephen J.] NCI, Lab Genom Divers, Frederick, MD 21702 USA. [Kessing, Bailey; Troyer, Jennifer L.] NCI, Lab Genom Divers, SAIC Frederick Inc, Frederick, MD 21702 USA. [Goedert, James J.] NCI, Viral Epidemiol Branch, Rockville, MD USA. [Phair, John P.] Northwestern Univ, Sch Med, Comprehens AIDS Ctr, Chicago, IL USA. [Smith, Michael W.] SAIC Frederick, Adv Technol Program, Frederick, MD USA.;Sezgin, E, NCI, Lab Genom Divers, Bldg 560,Room 21-42, Frederick, MD 21702 USA.;sezginef@mail.nih.gov
    1. Year: 2010
    2. Date: Sep
  2. Journal: Journal of Human Genetics
    1. 55
    2. 9
    3. Pages: 613-620
  4. Type of Article: Article
  5. ISSN: 1434-5161
  1. 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. Journal of Human Genetics (2010) 55, 613-620; doi:10.1038/jhg.2010.77; published online 24 June 2010

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External Sources

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  2. DOI: 10.1038/jhg.2010.77
  3. View record in Web of Science®
  4. WOS: 000282137900011

Library Notes

  1. Fiscal Year: FY2009-2010
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