MUTYH Gln324His gene polymorphism and genetic susceptibility for lung cancer in a Japanese population

Miyaishi, Aiko; Osawa, Kayo; Osawa, Yasunori; Inoue, Nobuyuki; Yoshida, Kana; Kasahara, Mayumi; Tsutou, Akimitsu; Tabuchi, Yoshiaki; Sakamoto, Kazuo; Tsubota, Noriaki; Takahashi, Juro

doi:10.1186/1756-9966-28-10

Cited by 53 publications

(39 citation statements)

References 19 publications

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“…To the best of our knowledge, there are no reports indicating a correlation of the 972G>C SNP of the MUTYH gene with the occurrence of neurodegenerative changes. However, there are a number of reports about the relationship between this polymorphism and the carcinogenesis process [32,33]. …”

Section: Discussionmentioning

confidence: 99%

Variants of Base Excision Repair Genes MUTYH, PARP1 and XRCC1 in Alzheimer's Disease Risk

Kwiatkowski

Czarny²,

Gałecki³

et al. 2015

Neuropsychobiology

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Background: Many clinical studies have shown that oxidative stress pathways and the efficiency of the oxidative DNA damage base excision repair (BER) system are associated with the pathogenesis of Alzheimer's disease (AD). Reduced BER efficiency may result from polymorphisms of BER-related genes. In the present study, we examine whether single nucleotide polymorphisms (SNPs) of BER genes are associated with increased risk of AD. Methods: SNP genotyping was carried out on DNA isolated from peripheral blood mononuclear cells obtained from 120 patients with AD and 110 healthy volunteers. Samples were genotyped for the presence of BER-related SNPs, i.e. XRCC1-rs1799782, rs25487; MUTYH-rs3219489, and PARP1-rs1136410. Results: We found a positive association between AD risk and the presence of G/A genotype variant of the XRCC1 rs25487 polymorphism [odds ratio (OR) = 3.762, 95% CI: 1.793-7.891]. The presence of the A/A genotype of this polymorphism reduced the risk of AD (OR = 0.485, 95% CI: 0.271-0.870). In cases of the PARP1 gene rs1136410 polymorphism, we observed that the T/C variant increases (OR = 4.159, 95% CI: 1.978-8.745) while the T/T variant reduces risk (OR = 0.240, 95% CI: 0.114-0.556) of AD. Conclusions: We conclude that BER gene polymorphisms may play an important role in the etiology of AD. Diagnosing the presence or absence of particular genetic variants may be an important marker of AD. Further research on a larger population is needed. There is also a need to examine polymorphisms of other BER in the context of AD risk.

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Section: Discussionmentioning

confidence: 99%

Variants of Base Excision Repair Genes MUTYH, PARP1 and XRCC1 in Alzheimer's Disease Risk

Kwiatkowski

Czarny²,

Gałecki³

et al. 2015

Neuropsychobiology

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“…A SNP Gln324His which was extensively studied in Japanese populations was found to be functionally relevant and to be associated with colon cancer [44,45]. However, for lung cancer, only one study reported increased risk for individuals carrying the variant His/His genotype compared with those with the Gln/Gln genotype; another one showed no association [13]. Thus, it was not surprising that BER polymorphisms did not show strong associations with lung cancer as those we observed in NER although some interactions between BER and NER polymorphisms were observed in our study.…”

Section: Discussionmentioning

confidence: 99%

“…BER, NER and DSB are three well-known DNA repair pathways which are mainly responsible for the repair of minor base alterations, removal of UV damage, bulky DNA adducts and recombination of homologous or non-homologous end-joining [1,2]. Many studies have investigated the associations of lung cancer with the genetic polymorphisms involved in these pathways in different populations [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19]. However, the study findings were inconsistent due to either small sample size or populations with mixed genetic backgrounds.…”

Section: Introductionmentioning

confidence: 99%

Association of genetic polymorphisms in DNA repair pathway genes with non-small cell lung cancer risk

et al. 2011

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“…Recent researches have demonstrated that many genes play pivotal roles in the pathogenesis of AE. Numerous studies have shown that damage repair genes play critical role in the pathogenesis (Miyaishi et al, 2009;Sliwinski et al, 2009;Picelli et al, 2010;Stanczyk et al, 2011;Santos et al, 2012), indicating the important relationship between the gene MUTYH and AE. The main finding of this study is that the same association dose exist in Han Chinese population.…”

Section: Discussionmentioning

confidence: 99%

MUTYH Association with Esophageal Adenocarcinoma in a Han Chinese Population

Kong

Han²,

Luan³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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Adenocarcinoma of esophagus (AE) is a complex disease, affected by a variety of genetic and environmental factors. Much evidence has shown that the MutY glycosylase homologue (MUTYH) plays a key role in the pathogenesis of many cancers. However, there have been no reports on influence on AE in the Han Chinese population. The objective of this study was to investigate this issue. A gene-based association study was conducted using three single nucleotide polymorphisms(SNPs) reported in previous studies. The three SNPs (rs3219463, rs3219472, rs3219489) were genotyped in 207 unrelated AE patients and 249 healthy controls in a case-control study using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). The results revealed that the genotype distribution of rs3219472 differed between the case and control groups (OR=1.66,95%CI=1.11-2.48, P=0.012 ), indicating that an association may exist between MUTYH and AE. These findings support a signifcant role for MUTYH in AE pathogenesis in the Han Chinese population.

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MUTYH Gln324His gene polymorphism and genetic susceptibility for lung cancer in a Japanese population

Abstract: Background: Genetic polymorphisms of DNA repair enzymes in the base excision repair (BER) pathway, may lead to genetic instability and lung cancer carcinogenesis. We investigated the interactions among the gene polymorphisms in DNA repair genes and lung cancer.

Cited by 53 publications

References 19 publications

Variants of Base Excision Repair Genes <b><i>MUTYH</i></b>, <b><i>PARP1</i></b> and <b><i>XRCC1</i></b> in Alzheimer's Disease Risk

Variants of Base Excision Repair Genes <b><i>MUTYH</i></b>, <b><i>PARP1</i></b> and <b><i>XRCC1</i></b> in Alzheimer's Disease Risk

Association of genetic polymorphisms in DNA repair pathway genes with non-small cell lung cancer risk

MUTYH Association with Esophageal Adenocarcinoma in a Han Chinese Population

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