MUC1 rs4072037 Polymorphism is Associated with Decreased Risk of Gastric Cancer: A Meta-analysis

Ye, Yu; Yang, Chong; Xu, Lei; Fang, Dilong

doi:10.5301/ijbm.5000270

Cited by 4 publications

(2 citation statements)

References 33 publications

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“…It might be due to the small sample size of the study cohort but a study with larger sample size that compared the clinical factors between GC patients with or without family history of GC suggested that the effect of H. pylori infection on GC development decreases among GC patients with family history of GC [7]. Two recent meta-analysis studies have shown that the G allele of MUC1 rs4072037 is associated with a decreased risk of GC [38,39]. MUC1 rs4072037 affects the gene promoter, leading to reduced transcriptional activity and MUC1 [40,41].…”

Section: Discussionmentioning

confidence: 99%

Family-based exome sequencing combined with linkage analyses identifies rare susceptibility variants of MUC4 for gastric cancer

et al. 2020

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Genome-wide association studies of gastric cancer (GC) cases have revealed common gastric cancer susceptibility loci with low effect size. We investigated rare variants with high effect size via whole-exome sequencing (WES) of subjects with familial clustering of gastric cancer. WES of DNAs from the blood of 19 gastric cancer patients and 36 unaffected family members from 14 families with two or more gastric cancer patients were tested. Linkage analysis combined with association tests were performed using Pedigree Variant Annotation, Analysis, and Search Tool (pVAAST) software. Based on the logarithm of odds (LOD) and permutation-based composite likelihood ratio test (CLRT) from pVAAST, MUC4 was identified as a predisposing gene (LOD P -value = 1.9×10 −5 ; permutation-based P -value of CLRT ≤ 9.9×10 −9 ). In a larger cohort consisting of 597 GC patients and 9,759 healthy controls genotyped with SNP array, we discovered common variants in MUC4 regions (rs148735556, rs11717039, and rs547775645) significantly associated with GC supporting the association of MUC4 with gastric cancer. And the MUC4 variants were found in higher frequency in The Cancer Genome Atlas Study (TCGA) germline samples of patients with multiple cancer types. Immunohistochemistry indicated that MUC4 was downregulated in the noncancerous gastric mucosa of subjects with MUC4 germline missense variants, suggesting that loss of the protective function of MUC4 predisposes an individual to gastric cancer. Rare variants in MUC4 can be novel gastric cancer susceptibility loci in Koreans possessing the familial clustering of gastric cancer.

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Section: Discussionmentioning

confidence: 99%

Family-based exome sequencing combined with linkage analyses identifies rare susceptibility variants of MUC4 for gastric cancer

et al. 2020

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“…Table 1 (Tab. 1) (References in Table 1: Chang et al, 2014[ 1 ]; Chen et al, 2015[ 2 ]; Cheng et al, 2015[ 3 ]; Dai et al, 2015[ 4 ]; Deng et al, 2014[ 5 ]; Gong et al, 2016[ 9 ]; Han et al, 2012[ 11 ]; He et al, 2013[ 12 ]; Hua et al, 2014[ 14 ]; Jia et al, 2017[ 16 ]; Kuang et al, 2014[ 17 ]; Li et al, 2015[ 20 ]; Li et al, 2016[ 18 ]; Li et al, 2017[ 19 ]; Liang et al, 2018[ 21 ]; Liu et al, 2011[ 23 ]; Liu et al, 2011[ 24 ]; Liu et al, 2014[ 25 ]; Liu et al, 2014[ 26 ]; Lu et al, 2012[ 27 ]; Ma et al, 2013[ 29 ]; Ma et al, 2013[ 30 ]; Ma et al, 2017[ 28 ]; Mo et al, 2016[ 31 ]; Mocellin et al, 2015[ 32 ]; Namazi et al, 2018[ 35 ]; Pabalan et al, 2015[ 36 ]; Peng and Xu, 2015[ 37 ]; Qi et al, 2016[ 38 ]; Qin et al, 2017[ 39 ]; Ribeiro et al, 2017[ 41 ]; Shen et al, 2014[ 47 ]; Shi et al, 2014[ 48 ]; Shi et al, 2017[ 49 ]; Shi et al, 2018[ 50 ]; Tian et al, 2012[ 52 ]; Wang et al, 2013[ 53 ]; Wang et al, 2014[ 54 ]; Wang et al, 2015[ 56 ]; Wang et al, 2015[ 57 ]; Wang et al, 2016[ 55 ]; Wu et al, 2015[ 58 ]; Xie et al, 2017[ 59 ]; Xu et al, 2014[ 61 ]; Xu et al, 2014[ 63 ]; Xu et al, 2015[ 62 ]; Xu et al, 2018[ 60 ]; Yadav et al, 2018[ 64 ]; Yan et al, 2013[ 65 ]; Yang et al, 2014[ 66 ]; Yang et al, 2016[ 67 ]; Ye et al, 2017[ 68 ]; Yu et al, 2014[ 69 ]; Zhang et al, 2012[ 72 ]; Zhang et al, 2013[ 71 ]; Zhang et al, 2015[ 74 ]; Zhang et al,...…”

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confidence: 99%

Non-random distribution of gastric cancer susceptible loci on human chromosomes

Mahjoub

Saadat

2018

EXCLI Journal; 17:Doc802; ISSN 1611-2156

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Genetic polymorphisms and gastric cancer risk: a comprehensive review synopsis from meta-analysis and genome-wide association studies

Tian

Liu

Zuo

et al. 2019

Cancer Biology & Medicine

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Objective In the past few decades, more than 500 reports have been published on the relationship between single nucleotide polymorphisms (SNPs) on candidate genes and gastric cancer (GC) risk. Previous findings have been disputed and are controversial. Therefore, we performed this article to summarize and assess the credibility and strength of genetic polymorphisms on the risk of GC. Methods We used Web of Science, PubMed, and Medline to identify meta-analyses published before July 30th, 2018 that assessed associations between variants on candidate genes and the risk of GC. Cumulative epidemiological evidence of statistical associations was assessed combining Venice criteria and a false-positive report probability (FPRP) test. Results Sixty-one variants demonstrated a significant association with GC risk, whereas 29 demonstrated no association. Nine variants on nine genes were rated as presenting strong cumulative epidemiological evidence for a nominally significant association with GC risk, including APE1 (rs1760944), DNMT1 (rs16999593), ERCC5 (rs751402), GSTT1 (null/presence), MDM2 (rs2278744), PPARG (rs1801282), TLR4 (rs4986790), IL-17F (rs763780), and CASP8 (rs3834129). Eleven SNPs were rated as moderate, and 33 SNPs were rated as weak. We also used the FPRP test to identify 13 noteworthy SNPs in five genome-wide association studies. Conclusions Sixty-one variants are significantly associated with GC risk, and 29 variants are not associated with GC risk; however, five variants on five genes presented strong evidence for an association upgraded from moderate. Further study of these variants may be needed in the future. Our study also provides referenced information for the genetic predisposition to GC.

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MUC1 rs4072037 Polymorphism is Associated with Decreased Risk of Gastric Cancer: A Meta-analysis

Abstract: In conclusion, this meta-analysis suggested that rs4245739 polymorphism in the MUC1 gene may play a pivotal role in the pathogenesis of GC, especially for white populations.

Cited by 4 publications

References 33 publications

Family-based exome sequencing combined with linkage analyses identifies rare susceptibility variants of MUC4 for gastric cancer

Family-based exome sequencing combined with linkage analyses identifies rare susceptibility variants of MUC4 for gastric cancer

Non-random distribution of gastric cancer susceptible loci on human chromosomes

Genetic polymorphisms and gastric cancer risk: a comprehensive review synopsis from meta-analysis and genome-wide association studies

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