APOBEC3H polymorphisms and susceptibility to HIV-1 infection in an Indian population

Taeko K Naruse1, Daisuke Sakurai1, Hitoshi Ohtani1

  • 1Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

Journal of Human Genetics
|November 13, 2015
PubMed

Insights

Genetic variations in Human APOBEC3H (A3H) are linked to HIV-1 infection susceptibility. The 15del allele and 15del-105R haplotype were found more frequently in HIV-1 infected Indian individuals, confirming their association with increased risk.

Area of Science:

  • Immunogenetics
  • Virology
  • Human Genetics

Background:

  • Human APOBEC3H (A3H) is a key enzyme in the APOBEC cytidine deaminase family that restricts HIV-1 replication.
  • A3H exhibits genetic polymorphism, influencing its protein stability and anti-HIV-1 activity.
  • Previous studies identified an association between A3H haplotypes (rs139292 and rs139297) and HIV-1 susceptibility in the Japanese population.

Purpose of the Study:

  • To investigate the association between A3H polymorphisms and HIV-1 infection susceptibility in an Indian ethnic group.
  • To validate the findings from the Japanese population in a different ethnic cohort.

Main Methods:

  • Genotyping of A3H polymorphisms (rs139292 and rs139297) in 241 HIV-1 infected Indian individuals and 286 healthy controls.
  • Statistical analysis including odds ratio (OR) calculation and permutation testing for haplotype analysis.

Main Results:

  • The frequency of the 15del allele was significantly higher in HIV-1 infected subjects compared to controls (0.477 vs 0.402, OR=1.36, P=0.014).
  • The 15del-105R haplotype was also more frequent in HIV-1 infected individuals (0.475 vs 0.400, OR=1.36, permutation P=0.037).

Conclusions:

  • APOBEC3H (A3H) polymorphisms, specifically the 15del allele and the 15del-105R haplotype, are associated with increased susceptibility to HIV-1 infection in the Indian population.
  • These findings reinforce the role of A3H genetic variations in modulating HIV-1 infection risk across different ethnic groups.

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