title: Functional polymorphism of hOGG1 gene is associated with type 2 diabetes mellitus in Chinese population.
abstract: hOGG1 protein excises the 8-hydroxy-2'-deoxyguanine (8-OHdG) which is associated with type 2 diabetes mellitus (T2DM). Our aim of this work is to explore whether the polymorphisms of hOGG1 gene are associated with T2DM. We screened the polymorphisms in the 5'-UTR (c.-18G>T, c.-23A>G, c.-45G>A and c.-53G>C) and c.977C>G (Ser326Cys) in exon 7 of hOGG1 gene. A case-control study indicated that c.-23A/G heterozygote was markedly associated with diabetes (P=0.004, OR=2.648, 95%CI=1.355-5.176) and with an increased level of C-peptide (705.00 versus 545.91 pmol/L, P=0.044). Furthermore, a significantly increased risk of T2DM was observed in the subjects carrying heterozygous variant of c.-23A>G and homozygous mutation of Ser326Cys (OR=3.684, 95%CI=1.400-9.697). The promoter activity of the variant allele c.-23G decreased 30-40% in Hela and HEK293 cell lines. In conclusion, the variant c.-23A>G of hOGG1 gene could decrease the gene promoter activity and was a risk factor for T2DM.
authors.affiliation: Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, China.
authors.forename: Caixia
authors.initials: C
authors.lastname: Sun
authors.forename: Xiufang
authors.initials: X
authors.lastname: Liu
authors.forename: Huan
authors.initials: H
authors.lastname: Zhang
authors.forename: Wenwen
authors.initials: W
authors.lastname: Guo
authors.forename: Zhenming
authors.initials: Z
authors.lastname: Cai
authors.forename: Huimei
authors.initials: H
authors.lastname: Chen
authors.forename: Kui
authors.initials: K
authors.lastname: Zhang
authors.forename: Dalong
authors.initials: D
authors.lastname: Zhu
authors.forename: Yaping
authors.initials: Y
authors.lastname: Wang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D002478:Cells, Cultured; D045647:DNA Glycosylases / Q000235:genetics* / Q000378:metabolism; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D055106:Genome-Wide Association Study; D006367:HeLa Cells; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D011401:Promoter Regions, Genetic / Q000502:physiology
chemical_list: D045647:DNA Glycosylases; C479058:oxoguanine glycosylase 1, human