Prevalence of common vitamin D receptor gene polymorphisms in HIV-infected and uninfected South Africans.

International journal of molecular epidemiology and genetics Pub Date : 2016-03-23 eCollection Date: 2016-01-01
Lynne McNamara, Simbarashe Takuva, Tobias Chirwa, Patrick MacPhail
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Abstract

Background: Host genetic factors may a play role in susceptibility to infection. Vitamin-D is an immunomodulator that may play a role in HIV infection. Vitamin-D action is mediated by the vitamin-D receptor. We establish prevalence of ApaI, BsmI, FokI and TaqI polymorphisms (VDRPs) amongst a black southern African HIV+ve population and investigate polymorphic differences between HIV+ve and -ve people.

Methods: Seventy-nine sex and age-group matched HIV+ve patients of African origin initiating antiretroviral therapy (ART) and 79 HIV-ve participants, also of African origin, were recruited from a public sector HIV testing and treatment clinic and investigated for the 4 polymorphisms. The genotype frequencies were compared, odds ratios and 95% confidence intervals of the association of HIV status and each genotype were calculated. Both dominant, co-dominant, recessive and allele models were tested.

Results: We found no evidence of difference in distribution and association between HIV infection and the genotypes of the BsmI, FokI and TaqI VDR polymorphisms. The genotype distributions were consistent with Hardy-Weinberg equilibrium for these genotypes. The ApaI genotype showed differences in distribution by HIV status in the dominant and co-dominant models. However this finding is cautiously stated as the ApaI genotype violated the Hardy-Weinberg equilibrium and frequency of the minor variant was unexpectedly low in this population.

Conclusion: We do not show convincing differences in distribution of the VDR genotypes among HIV+ve and HIV-ve black southern African persons. Future studies need to be replicated in larger study populations as understanding polymorphic differences and similarities may offer insights into the different susceptibility and progression of HIV in southern African populations.

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南非hiv感染者和未感染者常见维生素D受体基因多态性的流行情况
背景:宿主遗传因素可能在感染易感性中起作用。维生素d是一种免疫调节剂,可能在HIV感染中发挥作用。维生素d的作用是由维生素d受体介导的。我们建立了ApaI、BsmI、FokI和TaqI多态性(VDRPs)在南非黑人HIV+ve人群中的流行情况,并调查了HIV+ve和-ve人群之间的多态性差异。方法:从一家公共艾滋病检测和治疗诊所招募了79名性别和年龄组匹配的非洲裔HIV+ve患者,开始抗逆转录病毒治疗(ART),并调查了79名非洲裔HIV-ve参与者的4种多态性。比较基因型频率,计算HIV状态与各基因型相关性的比值比和95%置信区间。检测了显性、共显性、隐性和等位基因模型。结果:BsmI、FokI和TaqI基因型的VDR多态性与HIV感染的分布和相关性无明显差异。基因型分布符合Hardy-Weinberg平衡。在显性和共显性模型中,ApaI基因型在HIV感染状态下的分布存在差异。然而,这一发现是谨慎的,因为ApaI基因型违反了Hardy-Weinberg平衡,并且在该人群中,小变异的频率出乎意料地低。结论:我们没有显示出令人信服的VDR基因型在HIV+ve和HIV-ve黑人南部非洲人中分布的差异。未来的研究需要在更大的研究人群中进行复制,因为了解多态性差异和相似性可能为了解南部非洲人群中HIV的不同易感性和进展提供见解。
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