SNP screening of central MHC-identified HLA-DMB as a candidate susceptibility gene for HIV-related Kaposi's sarcoma

Genes Immun. 2014 Sep;15(6):424-9. doi: 10.1038/gene.2014.42. Epub 2014 Jul 10.

Abstract

The major histocompatibility complex (MHC) region on chromosome 6p21.3 is suspected to host susceptibility loci for HIV-related Kaposi's sarcoma (HIV-KS). A nested case-control study in the Multicenter AIDS Cohort Study was designed to conduct fine genetic association mapping across central MHC. Individuals co-infected with HIV-1 and human herpes virus-8 who later developed KS were defined as cases (n=354) and were matched 1:1 with co-infected KS-free controls. We report data for new independent MHC class II and III susceptibility loci. In particular, class II HLA-DMB emerged as a strong candidate, with the intronic variant rs6902982 A>G associated with a fourfold increase of risk (odds ratio (OR)=4.09; 95% confidence interval (CI)=1.90-8.80; P=0.0003). A striking multiplicative effect on the estimated risk was associated with further carriage of two non-synonymous variants, rs1800453 A>G (Asp697Gly) and rs4148880 A>G (Ile393Val), in the linked TAP1 gene (OR=10.5; 95% CI=2.54-43.6; P=0.0012). The class III susceptibility variant is moderately associated with HIV-KS and lies within a 120-kb-long haplotype (OR=1.52; 95% CI=1.01-2.28; P=0.047) formed by rs7029 A>G (GPANK1 3' untranslated region), rs1065356 G>A (LY6G6C), rs3749953 A>G (MSH5-SAPCD1 read through) and rs707926 G>A (VARS). Our data suggest that antigen processing by MHC class II molecules is a target pathway in the pathogenesis of HIV-KS.

Publication types

  • Multicenter Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • Acquired Immunodeficiency Syndrome / complications
  • Adult
  • Alleles
  • Case-Control Studies
  • Cohort Studies
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • HIV Infections / complications
  • HLA-D Antigens / genetics*
  • Haplotypes
  • Herpesviridae Infections / complications
  • Homosexuality
  • Humans
  • Major Histocompatibility Complex / genetics*
  • Male
  • Polymorphism, Single Nucleotide*
  • Risk Factors
  • Sarcoma, Kaposi / etiology
  • Sarcoma, Kaposi / genetics*

Substances

  • HLA-D Antigens
  • HLA-DM antigens