Osteoporosis associated selected single nucleotide polymorphisms frequency in HIV-infected and non-infected Polish population

Introduction: Osteoporosis poses significant risk for HIV infected subjects in the era of the long-term antiretroviral treatment. For this study frequency of the selected 11 single nucleotide polymorphisms (SNP single nucleotide polymorphism) previously associated with osteoporosis risk in HIV infected and uninfected cohorts was analysed. Association with the SNP variation and the risk of osteoporosis in the entire study and in HIV-infected cases was investigated. Material and methods: The study included 568 patients (226 women and 342 men): 315 HIV-infected patients and 253 anti-HIV negative cases. Osteoporosis was confirmed using dual energy absorptiometry ionizing radiation (DXA) in eight HIV infected patients and three controls [odds ratio (OR): 7.66, 95% CI: 1.98-29.6; p = 0.001; relative risk (RR): 7.04, 95% CI: 1.98-25.97, p = 0.0019]. SNP assays performed for collagen type 1 (COL1A1) rs1800012, parathyroid hormone (PTH) rs9630182, estrogen receptor gene (ER1) rs2077647, rs3020314 and rs1884051, Vitamin D receptor (VDR) rs1544410 and rs731236, Osteoprotegerin rs4355801, LDL receptor protein (LRP5) rs3736228, RANK rs3018362 and CYP19A1 (aromatase) rs700518 using TaqMan SNP Genotyping Assay (Applied Biosystems) according to the manufacturer's protocol. For statistics Statistica 12 software was used. Results: Majority of allele frequencies for the studied polymorphisms were consistent with the Hardy-Weinberg equilibrium. CC homozygotes for ER1 rs2077647 were notably more common in HIV (+) cases compared to controls [OR: 2.29, 95% CI: 1.25-4.19, p = 0.003; RR: 2.11, 1.22-3.68, p = 0.0072]. Also GG homozygotes for ER1 rs1884051 were more common both in HIV(+) [OR: 2.57, 1.33-4.94, p = 0.0016; RR: 2.37, 1.29-4.36, p = 0.002] and in all patients with osteoporosis [OR 5.04, 1.24-20.4, p = 0.025; RR 3.94, 1.38-11.24, p = 0.043]. Additionally, in HIV (+) patients parathyroid hormone rs9630182 T allele was notably more common [OR: 1.4, 1.0-1.97, p = 0.024; RR: 1.15, 0.99-1.33, p = 0.029]. Conclusions: Genetic variability for the osteoporosis-associated SNPs was similar in HIV-infected patients and uninfected persons. ER1rs1884051 variants may be associated with the increased osteoporosis risk, but increased incidence of osteoporosis in HIV-infected compared to uninfected people seems to be weakly associated with investigated single nucleotide polymorphisms. Variation in the gene for the estrogen receptor ER1rs1884051 was significantly more frequent in patients with osteoporosis and more common in HIV infection.