Dataset Information

Association of erythropoietin gene rs576236 polymorphism and risk of adrenal tumors in a Chinese population.

ABSTRACT: Erythropoietin (EPO) is a circulating glycosylated protein hormone and has been implicated in the development and progression of non-hematopoietic tissue tumors. The objective of the present study was to determine if the EPO rs576236 polymorphism was associated with the risk of adrenal tumors. We genotyped the EPO rs576236 polymorphism in a case-control study of 288 adrenal tumor patients and 456 cancer-free controls by using the TaqMan method, and assessed the association between the polymorphism and the adrenal tumor risk by logistic regression. Furthermore, 95% confidence interval (CI) was used to assess the genetic association between the polymorphism and the risk of adrenal tumor. Compared with the TT genotype, the TC genotype had a significantly increased risk of adrenal tumor [adjusted odds ratio (OR) ?=? 1.24, 95% CI ?=? 1.12-2.22]. Furthermore a significantly increased risk of adrenal tumor was found in the combined variant genotypes TC+CC compared with the TT genotype (adjusted OR ?=? 1.17, 95% CI ?=? 1.12-2.21). Our present study suggests that the rs576236 polymorphism of EPO confers susceptibility to adrenal tumor in the Chinese population.

SUBMITTER: Zhang C

PROVIDER: S-EPMC4250524 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature

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Association of erythropoietin gene rs576236 polymorphism and risk of adrenal tumors in a Chinese population.

Zhang Chao C Li Zhongxing Z Cao Qiang Q Qin Chao C Cai Hongzhou H Zhou Hai H Qian Jian J Tao Liangjun L Ju Xiaobing X Yin Changjun C

Journal of biomedical research 20140811 6

Erythropoietin (EPO) is a circulating glycosylated protein hormone and has been implicated in the development and progression of non-hematopoietic tissue tumors. The objective of the present study was to determine if the EPO rs576236 polymorphism was associated with the risk of adrenal tumors. We genotyped the EPO rs576236 polymorphism in a case-control study of 288 adrenal tumor patients and 456 cancer-free controls by using the TaqMan method, and assessed the association between the polymorphi ...[more]

PMID: 25469114

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Project description:Background and Aims: Genetic variants in the gene SERPINC1 have been shown to be associated with antithrombin deficiency, which subsequently contributes to the susceptibility to venous thrombosis. However, several other studies have shown conflicting results regarding the association of SERPINC1 gene polymorphisms (rs2227589) with the risk of thrombosis. Hence, in the present study, we conducted a case-control study to further evaluate the association between the variant rs2227589 with antithrombin deficiency in pulmonary embolism (PTE). A pooled systematic analysis was also conducted to evaluate the risk of rs2227589 in venous thromboembolism (VTE) among multiple populations. Methods: This case-control study involved 101 patients and 199 healthy controls. The allele frequency of SERPINC1 variant rs2227589 was analyzed by Sequenom assay. Antithrombin anticoagulant activity was detected using an automatic coagulation analyzer. In addition, a pooled systematic analysis on 10 cohorts consisting of 5,518 patients with VTE and 8,935 controls was performed. Results: In total, 27 (26.7%) PTE subjects were diagnosed as having antithrombin deficiency. Our results showed that antithrombin plasma activity was slightly lower in T allele carriers than that in C allele carriers. However, there was no significant correlation between rs2227589 genotype and antithrombin anticoagulant activity. The recessive model showed that rs2227589 was significantly associated (p = 0.026) with an increased risk {odds ratio [OR]: 2.31, 95% confidence interval [CI] (1.09-4.89)} of Chinese PTE. The pooled systematic analysis of all case-control study and meta-analysis showed that rs2227589 polymorphism was associated with an increased risk of VTE in the additive model [OR: 1.09, 95% CI (1.01-1.18), P = 0.029] and dominant model [OR: 1.10, 95% CI (1.01-1.20), P = 0.034]. Conclusions: Our study demonstrated that variant rs2227589 is associated with an increased risk of PTE in a Chinese population but no correlation with antithrombin anticoagulant activity. However, pooled systematic analysis of multiple populations showed a significant association between rs2227589 and the risk of VTE in the additive and dominant genetic model.

Dataset Information

Association of erythropoietin gene rs576236 polymorphism and risk of adrenal tumors in a Chinese population.

Publications

Association of erythropoietin gene rs576236 polymorphism and risk of adrenal tumors in a Chinese population.

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