title: DEFB1 5'UTR polymorphisms modulate the risk of HIV-1 infection in Mexican women.
abstract: 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.
authors.forename: J A
authors.initials: JA
authors.lastname: Estrada-Aguirre
authors.forename: I
authors.initials: I
authors.lastname: Osuna-Ramírez
authors.forename: E
authors.initials: E
authors.lastname: Prado Montes de Oca
authors.forename: L A
authors.initials: LA
authors.lastname: Ochoa-Ramirez
authors.forename: M
authors.initials: M
authors.lastname: Ramirez
authors.forename: L G
authors.initials: LG
authors.lastname: Magallon-Zazueta
authors.forename: M S
authors.initials: MS
authors.lastname: Gonzalez-Beltran
authors.forename: S G
authors.initials: SG
authors.lastname: Cazarez-Salazar
authors.forename: H
authors.initials: H
authors.lastname: Rangel-Villalobos
authors.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. jsvelfe@hotmail.com.
authors.forename: J S
authors.initials: JS
authors.lastname: Velarde-Felix
mesh_terms: D020121:5' Untranslated Regions; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D015658:HIV Infections / Q000453:epidemiology* / Q000235:genetics* / Q000276:immunology / Q000821:virology; D015497:HIV-1 / Q000302:isolation & purification*; D006801:Humans; D008800:Mexico; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D018570:Risk Assessment; D055815:Young Adult; D023083:beta-Defensins / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; C406407:DEFB1 protein, human; D023083:beta-Defensins