title: The polymorphisms of MSH6 gene are associated with AIDS progression in a northern Chinese population.
abstract: It has been reported that DNA repair genes play an important role in HIV-1 infection and AIDS progression. One DNA repair pathway, the mismatch repair (MMR) is associated with a wide variety of tumors. However, the role of single nucleotide polymorphisms (SNPs) in the MMR genes and their importance in HIV-1 infection and AIDS progression remain unclear. In the present study, 479 HIV-1-infected and 487 healthy individuals from northern China were genotyped for nine SNPs in the MSH2 gene (rs13019654, rs4608577, rs4952887, rs6726691, rs10191478, rs12999145, rs1981929, rs2042649, rs2303428) and five SNPs in the MSH6 gene (rs2348244, rs3136245, rs3136329, rs2072447, rs7562048). Our results showed that the rs7562048 G allele frequency was significantly higher in the cases with the CD4(+) T-lymphocyte count <200cells/μl than those with >200cells/μl (P=0.001, OR=1.811, 95% CI 1.255-2.614), which is in agreement with the result of the Bonferroni correction. The frequencies of the rs2348244 C allele and rs3136245 T allele were higher in the cases at clinical phase IV than those at clinical phase I+II+III (P=0.026, OR=1.591, 95% CI 1.056-2.398 and P=0.019, OR=1.749, 95% CI 1.096-2.791, respectively); however, this difference is not supported by the Bonferroni correction. There were no significant differences in the frequency of allele, genotype and haplotype of the 14 SNPs between HIV-1-infected individuals and healthy controls (P>0.05). These results suggest that the rs7562048 is associated with the clinical features and that the MSH6 gene polymorphisms likely play an important role in the progression of AIDS in the northern Chinese population.
authors.affiliation: Laboratory of Medical Genetics, Harbin Medical University, Harbin 150081, China; Department of Biology, Mudanjiang Medical University, Mudanjiang 157011, China.
authors.forename: Chuntao
authors.initials: C
authors.lastname: Wang
authors.affiliation: Department of Medical Biology and Genetics, Harbin Medical University-Daqing, Daqing 163319, China.
authors.forename: Chunyan
authors.initials: C
authors.lastname: Zhao
authors.affiliation: Laboratory of Medical Genetics, Harbin Medical University, Harbin 150081, China.
authors.forename: Xuelong
authors.initials: X
authors.lastname: Zhang
authors.affiliation: Laboratory of Medical Genetics, Harbin Medical University, Harbin 150081, China.
authors.forename: Lidan
authors.initials: L
authors.lastname: Xu
authors.affiliation: Laboratory of Medical Genetics, Harbin Medical University, Harbin 150081, China.
authors.forename: Xueyuan
authors.initials: X
authors.lastname: Jia
authors.affiliation: Laboratory of Medical Genetics, Harbin Medical University, Harbin 150081, China.
authors.forename: Haiming
authors.initials: H
authors.lastname: Sun
authors.affiliation: The Second Affiliated Hospital, Harbin Medical University, Harbin 150081, China.
authors.forename: Jingcui
authors.initials: J
authors.lastname: Yu
authors.affiliation: Laboratory of Medical Genetics, Harbin Medical University, Harbin 150081, China.
authors.forename: Guangfa
authors.initials: G
authors.lastname: Zhang
authors.affiliation: Department of Clinical Laboratory, Qiqihar Traditional Chinese Medicine Hospital, Qiqihar 161000, China.
authors.forename: Ning
authors.initials: N
authors.lastname: He
authors.affiliation: Laboratory of Medical Genetics, Harbin Medical University, Harbin 150081, China.
authors.forename: Qiuyan
authors.initials: Q
authors.lastname: Li
authors.affiliation: Laboratory of Medical Genetics, Harbin Medical University, Harbin 150081, China. Electronic address: qiaoyuandong@hrbmu.edu.cn.
authors.forename: Yuandong
authors.initials: Y
authors.lastname: Qiao
authors.affiliation: Laboratory of Medical Genetics, Harbin Medical University, Harbin 150081, China. Electronic address: fusb@ems.hrbmu.edu.cn.
authors.forename: Songbin
authors.initials: S
authors.lastname: Fu
mesh_terms: D000163:Acquired Immunodeficiency Syndrome / Q000208:ethnology / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People; D018791:CD4 Lymphocyte Count; D015496:CD4-Positive T-Lymphocytes / Q000276:immunology / Q000473:pathology / Q000821:virology*; D016022:Case-Control Studies; D002986:Clinical Trials as Topic; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000276:immunology; D018450:Disease Progression; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D015497:HIV-1 / Q000472:pathogenicity / Q000502:physiology*; D006239:Haplotypes; D018451:Homosexuality, Male; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein
keywords: AIDS; HIV-1; MSH2; MSH6; Progression; SNPs