@phdthesis{oai:hama-med.repo.nii.ac.jp:00000052,
 author = {Tao, Hong},
 month = {Feb},
 note = {浜松医科大学学位論文 医博第511号(平成20年3月17日）, doctoral, 医学系研究科, The MUTYH gene encodes a DNA glycosylase that can initiate the base excision repair pathway and prevent G:C>T:A transversion by excising adenine mispaired with 8-hydroxyguanine.  Biallelic germline mutations of MUTYH have been shown to predict familial and sporadic multiple colorectal adenomas and carcinomas, however, whether there is an association between single nucleotide polymorphisms (SNPs) of MUTYH and sporadic colorectal cancer (CRC) risk has remained unclear.  In this study we investigated four MUTYH SNPs, i.e., IVS1+11C>T, IVS6+35G>A, IVS10-2A>G, and 972G>C (Gln324His), for an association with increased CRC risk in a population-based series of 685 CRC patients and 778 control subjects from Kyushu, Japan.  A statistically significant association was demonstrated between IVS1+11T and increased CRC risk (odds ratio [OR]: 1.43; 95% confidence interval [CI]: 1.012~2.030; P=0.042) and one of the 5 haplotypes based on the 4 SNPs, the IVS1+11T - IVS6+35G - IVS10-2A - 972C (TGAC) haplotype containing the IVS1+11T, was demonstrated to be associated with increased CRC risk (OR: 1.43; 95% CI: 1.005~2.029; P=0.046).  Subsite-specific analysis showed that the TGAC haplotype was statistically significantly (P=0.013) associated with an increased risk of distal colon, but not proximal colon or rectal cancer.  Furthermore, IVS1+11C>T was found to be in complete linkage disequilibrium with -280G>A and 1389G>C (Thr463Thr).  The results indicated that Japanese individuals with the -280A / IVS1+11T / 1389C genotypes or the TGAC haplotype are susceptible to CRC.},
 school = {浜松医科大学},
 title = {Association between genetic polymorphisms of the base excision repair gene MUTYH and increased colorectal cancer risk in a Japanese population},
 year = {2008}
}