Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin 150081, China.
Laboratory of Medical Genetics, Harbin Medical University, Harbin 150081, China.
Dis Markers. 2022 Oct 19;2022:5126867. doi: 10.1155/2022/5126867. eCollection 2022.
Men who have sex with men (MSM) are at high risk of HIV infection. The nonhomologous end joining (NHEJ) pathway is the main way of double-stranded DNA break (DSB) repair in the higher eukaryotes and can repair the DSB timely at any time in cell cycle. It is also indicated that the NHEJ pathway is associated with HIV-1 infection since the DSB in host genome DNA occurs in the process of HIV-1 integration. The aim of the present investigation was to evaluate associations of single-nucleotide polymorphisms (SNPs) in NHEJ pathway genes with susceptibility to HIV-1 infection and AIDS progression among MSM residing in northern China.
A total of 481 HIV-1 seropositive men and 493 HIV-1 seronegative men were included in this case-control study. Genotyping of 22 SNPs in NHEJ pathway genes was performed using the SNPscan™ Kit.
Positive associations were observed between rs132770 and rs1056503 genotypes and the susceptibility to HIV-1 infection. In gene-gene interaction analysis, significant SNP-SNP interactions of and genetic variations were found to play a potential role in the risk of HIV-1 infection. In stratified analysis, rs16855458 was significantly associated with CD4+ T cell counts in AIDS patients, whereas rs1805388 was linked to the clinical phases of AIDS patients.
NHEJ gene polymorphisms can be considered to be risk factors of HIV-1 infection and AIDS progression in the northern Chinese MSM population.
男男性行为者（MSM）感染 HIV 的风险较高。非同源末端连接（NHEJ）途径是真核生物双链 DNA 断裂（DSB）修复的主要途径，并且可以在细胞周期的任何时间及时修复 DSB。此外，有研究表明，NHEJ 途径与 HIV-1 感染有关，因为 HIV-1 整合过程中宿主基因组 DNA 会发生 DSB。本研究旨在评估 NHEJ 途径基因中单核苷酸多态性（SNP）与中国北方 MSM 人群中 HIV-1 感染易感性和 AIDS 进展的相关性。
本病例对照研究共纳入 481 名 HIV-1 血清阳性男性和 493 名 HIV-1 血清阴性男性。采用 SNPscan™试剂盒对 NHEJ 途径基因中的 22 个 SNP 进行基因分型。
rs132770 和 rs1056503 基因型与 HIV-1 感染易感性呈正相关。在基因-基因相互作用分析中，发现和 基因变异的 SNP-SNP 相互作用可能在 HIV-1 感染风险中发挥作用。分层分析显示，rs16855458 与 AIDS 患者的 CD4+T 细胞计数显著相关，而 rs1805388 与 AIDS 患者的临床分期有关。
NHEJ 基因多态性可被视为中国北方 MSM 人群 HIV-1 感染和 AIDS 进展的危险因素。
