DEFB1 5'UTR Polymorphisms Modulate the Risk of HIV-1 Infection in Mexican Women
J.A. Estrada-Aguirre, I. Osuna-Ramírez, E. Prado Montes de Oca, L.A. Ochoa-Ramirez, M. Ramirez, L.G. Magallon-Zazueta, M.S. Gonzalez-Beltran, S.G. Cazarez-Salazar, H. Rangel-Villalobos and J.S. Velarde-Felix
Affiliation: Unidad Academica Escuela de Biologia, Universidad Autonoma de Sinaloa, Culiacan, Sinaloa, Mexico, Av. De las Americas y Blvd. Universitarios s/n, Ciudad Universitaria, Culiacan, Sinaloa, Mexico.
Immunologic and genetic factors are involved in HIV-1/AIDS pathogenesis. Defensins are key molecules in
innate immunity that participate in the control and/or development of infection and disease. Using PCR-RFLPs, we
determined the association between HIV-1/AIDS and human β-defensin 1 (DEFB1) 5’UTR -52 G/A (rs1799946), -44
C/G (rs1800972), and -20 G/A (rs11362) polymorphisms in three groups of women from the state of Sinaloa, located in
the Northwest region of Mexico: i) healthy blood donors; ii) sex-workers; and iii) HIV-1 patients. The -52GG genotype
was more frequent in blood donors than in patients (p= 0.023; Odds Ratio, OR= 0.49; 95% CI= 0.25–0.95), whereas the -
52GA genotype was significantly higher in patients (p= 0.013; OR= 2.03; 95% CI= 1.11−3.79, statistical power SP=
98.8%), as well as the frequencies of -20A allele (p= 0.017; OR= 1.60; 95% CI= 1.06−2.40), -20AA genotype (p= 0.047;
OR = 2.02; 95% CI= 0.93−4.33) and the ACA haplotype with respect to healthy blood donors (p= 0.000012; OR= 5.82;
95% CI= 2.33–16.43, SP= 99.89%) and sex-workers (p= 0.019; OR= 2.18; 95% CI= 1.07–4.46). Conversely, the ACG
haplotype was higher in healthy blood donors than in patients (p= 0.009; OR= 0.55; 95% CI= 0.34–0.89). In addition, the
-44CC genotype was associated with a low plasma viral load (p= 0.015), whereas AGA, AGG and GGA haplotypes were
more prevalent in individuals with high CD4 counts (p= 0.004, 0.046, and 0.029, respectively). These findings associate
DEFB1 5’UTR polymorphisms with HIV-1/AIDS in Mexican women for the first time.
Keywords: Human β-defensins, DEFB1 polymorphisms, HIV-1 resistance, AIDS, sex-workers.
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