PMID- 23396182
OWN - NLM
STAT- MEDLINE
DCOM- 20130520
LR  - 20221207
IS  - 1879-0038 (Electronic)
IS  - 0378-1119 (Linking)
VI  - 519
IP  - 1
DP  - 2013 Apr 25
TI  - Combined analysis of polymorphism variants in hMTH1, hOGG1 and MUTYH genes on the 
      risk of type 2 diabetes in the Chinese population.
PG  - 50-4
LID - S0378-1119(13)00126-1 [pii]
LID - 10.1016/j.gene.2013.01.053 [doi]
AB  - Reactive oxygen species are considered to play a role in the development of type 
      2 diabetes mellitus (T2DM) and its complications. 8-Oxoguanine, which is one of 
      the major oxidation base lesions produced by reactive oxygen species, may cause 
      G:C to T:A transversion mutations because it can mispair with adenine. hMTH1 
      (human mutT homolog 1), hOGG1 (human 8-oxoguanine glycosylase 1) and MUTYH (human 
      mutY homolog) genes constitute the 8-oxoG repair pathway. In this study, we 
      screened for the polymorphism variants Val83Met (c.247G>A, rs4866) in hMTH1; 
      c.-53G>C (rs56387615), c.-23A>G (rs1801129) and c.-18G>T (rs1801126) in the 
      5'-UTR of hOGG1; and AluYb8 insertion in MUTYH (AluYb8MUTYH, rs10527342) and 
      investigated their synergistic effect on the risk of T2DM in the Chinese 
      population. The genotypes were determined by electrophoresis, a high-resolution 
      melting technique and sequencing of PCR products. Our results showed that the 
      c.247G>A variant in the hMTH1 gene increased the risk of T2DM in >55 years of age 
      groups (OR=1.579; 95%CI: 1.029-2.421). The set of c.-53G>C, c.-23A>G and c.-18G>T 
      variants detected in the 5'-UTR of the hOGG1 gene and the AluYb8 insertion in the 
      MUTYH gene were each associated with an increased risk of T2DM (OR=1.507, 95%CI: 
      1.122-2.024; OR=1.229, 95%CI: 1.030-1.466, respectively). Combined analysis of 
      the variations among the three genes suggested that the c.247G>A variant in hMTH1 
      combined with AluYb8MUTYH variant had a synergistic effect on increasing the risk 
      of T2DM (OR=1.635; 95%CI: 1.147-2.330). This synergy was also observed between 
      the variants in the 5'-UTR of the hOGG1 and the AluYb8MUTYH variant (OR=1.804; 
      95%CI: 1.254-2.595). Our results suggest, for the first time, the combined 
      effects of AluYb8MUTYH with either hMTH1 c.247G>A or variants in the 5'-UTR of 
      the hOGG1 on the risk of T2DM.
CI  - Copyright (c) 2013 Elsevier B.V. All rights reserved.
FAU - Cao, Lili
AU  - Cao L
AD  - Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, 
      Jiangsu, China.
FAU - Zhou, Wei
AU  - Zhou W
FAU - Zhu, Yanbei
AU  - Zhu Y
FAU - Guo, Wenwen
AU  - Guo W
FAU - Cai, Zhenming
AU  - Cai Z
FAU - He, Xuan
AU  - He X
FAU - Xie, Yuan
AU  - Xie Y
FAU - Li, Xinxiu
AU  - Li X
FAU - Zhu, Dalong
AU  - Zhu D
FAU - Wang, Yaping
AU  - Wang Y
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130208
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - 0 (5' Untranslated Regions)
RN  - 0 (Reactive Oxygen Species)
RN  - 9007-49-2 (DNA)
RN  - EC 3.1.3.2 (Phosphoric Monoester Hydrolases)
RN  - EC 3.2.2.- (DNA Glycosylases)
RN  - EC 3.2.2.- (mutY adenine glycosylase)
RN  - EC 3.2.2.- (oxoguanine glycosylase 1, human)
RN  - EC 3.6.1.55 (8-oxodGTPase)
RN  - EC 6.5.1.- (DNA Repair Enzymes)
SB  - IM
MH  - 5' Untranslated Regions
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Asian People/genetics
MH  - Case-Control Studies
MH  - DNA/genetics/isolation & purification
MH  - DNA Glycosylases/*genetics/metabolism
MH  - DNA Repair
MH  - DNA Repair Enzymes/*genetics/metabolism
MH  - Diabetes Mellitus, Type 2/*genetics
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutagenesis, Insertional
MH  - Phosphoric Monoester Hydrolases/*genetics/metabolism
MH  - *Polymorphism, Single Nucleotide
MH  - Reactive Oxygen Species
MH  - Risk Factors
MH  - Sequence Analysis, DNA
MH  - Young Adult
EDAT- 2013/02/12 06:00
MHDA- 2013/05/22 06:00
CRDT- 2013/02/12 06:00
PHST- 2012/10/19 00:00 [received]
PHST- 2013/01/04 00:00 [revised]
PHST- 2013/01/28 00:00 [accepted]
PHST- 2013/02/12 06:00 [entrez]
PHST- 2013/02/12 06:00 [pubmed]
PHST- 2013/05/22 06:00 [medline]
AID - S0378-1119(13)00126-1 [pii]
AID - 10.1016/j.gene.2013.01.053 [doi]
PST - ppublish
SO  - Gene. 2013 Apr 25;519(1):50-4. doi: 10.1016/j.gene.2013.01.053. Epub 2013 Feb 8.