Dataset Information

Association between clusterin polymorphisms and esophageal squamous cell carcinoma risk in Han Chinese population.

ABSTRACT: Genetic susceptibility plays an essential role in an individual's risk of esophageal squamous cell carcinoma (ESCC). The aim of this study is to investigate the associations between clusterin (CLU) gene polymorphisms and ESCC risk. We undertook a case-control study to analyze three CLU polymorphisms (gene rs9331888 C>G, rs17466684 A>G and rs1532278 T>C) in an Han Chinese population, by extraction of genomic DNA from the peripheral blood of 642 patients with ESCC and 658 control participants, and performed CLU genotyping using DNA sequencing. The obtained results indicated that overall, no statistically significant association was observed in rs17466684 and rs1532278. However, gene rs9331888 C>G genotype was at increased risk of ESCCs (P=0.037; odds ratio (OR)=1.089, 95% CI: 1.006-1.175). Moreover, rs9331888 G/G genotype ESCCs were more significantly common in patients with tumor size of >5 cm than T allele ESCC and in cases of poor differentiation and lower advanced pathological stage. In conclusion, polymorphism in rs9331888 C>G was observed to be associated with susceptibility of ESCC. Nevertheless, further investigation with a larger sample size is needed to support our results.

SUBMITTER: Li K

PROVIDER: S-EPMC4613044 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Association between clusterin polymorphisms and esophageal squamous cell carcinoma risk in Han Chinese population.

Li Kun K Wang Jian J Ma Zhen-Bin ZB Guo Guang-Hong GH

International journal of clinical and experimental medicine 20150815 8

Genetic susceptibility plays an essential role in an individual's risk of esophageal squamous cell carcinoma (ESCC). The aim of this study is to investigate the associations between clusterin (CLU) gene polymorphisms and ESCC risk. We undertook a case-control study to analyze three CLU polymorphisms (gene rs9331888 C>G, rs17466684 A>G and rs1532278 T>C) in an Han Chinese population, by extraction of genomic DNA from the peripheral blood of 642 patients with ESCC and 658 control participants, and ...[more]

PMID: 26550359

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Project description:Objective:The main aim of this study was to investigate the association of polymorphisms in long non-coding RNA metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) with the risk of esophageal squamous cell carcinoma (ESCC) in a Chinese population. Methods:A total of 245 ESCC patients and 490 gender- and age-matched cancer-free controls were genotyped for four tag single nucleotide polymorphisms (SNPs) of MALAT1 (rs3200401 C > T, rs1122709 C > G, rs664589 C > G, and rs619586 A > G). Statistical analyses including chi-squared test and logistic regression were performed to identify the association between the tag SNPs and risk of ESCC, and false discovery rate (FDR) <25% was applied to adjust for multiple comparisons. Results:We found that rs3200401 C > T polymorphism of MALAT1 was significantly associated with increased risk of ESCC (CT vs CC: adjusted OR =1.59, 95% CI =1.07-2.35, P=0.021; TT vs CC: adjusted OR =2.27, 95% CI =1.04-4.96, P=0.039; dominant model [CT+TT vs CC]: adjusted OR =1.68, 95% CI =1.16-2.43, P=0.006). In the stratified analysis, rs3200401 TT and CT/TT genotypes were associated with increased risk of ESCC compared with CC genotype in subgroup of never drinking (TT vs CC: adjusted OR =2.34, 95% CI =1.02-5.34, P=0.044; CT/TT vs CC: adjusted OR =1.52, 95% CI =1.02-2.26, P=0.041). However, compared with AA genotype, MALAT1 rs619586 GG was associated with decreased risk of ESCC in ever drinking subgroup (GG vs AA: adjusted OR =0.38, 95% CI =0.15-0.99, P=0.049). The results remained significant after FDR adjustment (FDR value <0.25) except for the comparison between rs619586 GG and AA genotype in ever drinking subgroup. Conclusion:Taken together, our findings proposed that polymorphism rs3200401 C > T in MALAT1 gene is associated with increased risk of ESCC. Since the association between rs619586 A > G polymorphism and ESCC risk was not significant after FDR adjustment, there was a minor possibility that rs619586 A > G might be a protective factor for ESCC.

Project description:Several studies have reported the association between MAPK signaling pathway gene polymorphisms and papillary thyroid carcinoma (PTC). KRAS gene, an oncogene from the mammalian RAS gene family plays an important role in the MAPK pathway. This study aimed to identify the potential association of KRAS gene polymorphisms with susceptibility to PTC in a Han Chinese population. A total of 861 patients with PTC, 562 disease controls with nodular goiter and 897 healthy controls were recruited. Four tagSNP polymorphisms (rs12427141, rs712, rs7315339 and rs7960917) of KRAS gene were genotyped by matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS). Statistical analyses and haplotype estimations were conducted using Haploview and Unphased softwares. Only significant differences were observed in genotypic frequencies of the rs7315339 polymorphism (χ2 =7.234, df=2, p=0.027) between PTC and disease controls. Statistically significant differences in both allelic and genotypic genotypes frequencies for rs712 (Genotype, χ2=8.258, p=0.016) and rs12427141 (Allele, χ2=3.992, p=0.046; Genotype, χ2=8.140, p=0.017) were observed between PTC patients and controls. Haplotype analyses revealed higher frequencies of GA and TA haplotypes (p=0.039 and p=0.003, respectively) from rs712- rs12427141 (two-SNP) or TGA and TTG haplotype containing the alleles from rs7960917, rs712 and rs12427141, as well as the GAT haplotype containing the alleles from rs712, rs12427141 and rs7315339 in PTC patients than in healthy controls (p=0.042, p=0.037, p=0.027, respectively). Inversely, the haplotype TTA from rs7960917, rs712 and rs12427141 or the haplotype TAC from rs712, rs12427141 and rs7315339 was significantly less frequent in the PTC patients than in normal control (p=0.003, p=0.003, respectively). These findings suggest the role of these KRAS gene variants in susceptibility to PTC. Moreover, significant differences of the KRAS gene polymorphisms may occur between nodular goiter and PTC.

Dataset Information

Association between clusterin polymorphisms and esophageal squamous cell carcinoma risk in Han Chinese population.

Publications

Association between clusterin polymorphisms and esophageal squamous cell carcinoma risk in Han Chinese population.

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