[STK15和MMP-2基因多态性与蒙古族人群食管癌易感性的关系]

[Genetic polymorphisms in STK15 and MMP-2 associated susceptibility to esophageal cancer in Mongolian population].

作者信息

Chen Xia-Bin, Chen Guang-Lie, Liu Jun-Niao, Yang Jing-Zhong, Yu Dian-Ke, Lin Dong-Xin, Tan Wen

机构信息

Department of Etiology and Carcinogenesis, Cancer Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

出版信息

Zhonghua Yu Fang Yi Xue Za Zhi. 2009 Jul;43(7):559-64.

PMID:19954064

Abstract

OBJECTIVE

To investigate the frequencies of alleles and the association with risk of esophageal cancer in a Mongolian population, and to compare the allele frequencies of these polymorphisms between the two populations and the susceptibility to esophageal cancer.

METHODS

A case-control study was conducted, and 8 single nucleotide polymorphisms (SNP), including FAS - 670G/A, FAS - 1377G/A, FASL -844T/C, COX-2 - 1290A/G, COX-2 - 1195G/A, STK15 Phe31Ile, MMP-2 - 1306C/T and MMP -2 -735C/T, were detected by polymerase chain reaction-based restriction fragment length polymorphism assay (PCR-RFLP) in 188 esophageal cancer cases and 324 normal controls of Mongolian. The odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression. The results were then compared with the reported data of the Han ethnic Chinese population.

RESULTS

In Mongolian, as compared with the STK15 31Ile/Ile genotype, the STK15 31Phe/Phe genotype carriers had an increased risk of esophageal cancer (adjusted OR = 2.20, 95% CI: 1.12-4.31), and the subjects with MMP-2 - 735TT genotype had an increased risk of esophageal cancer as compared with those with the MMP-2 - 735CC genotype (adjusted OR =4.82, 95% CI: 1.59 - 14.60). However, the rest of SNPs were not associated with the susceptibility to esophageal cancer. The allele frequencies of FASL - 844 T/C [0.264(171/648)/0.736 (477/648), 0.323(418/1296)/0.677(878/1296)], COX-2 - 1195G/A [0.431(279/648)/0.569(369/ 648), 0.492(1250/2540)/0.508(1290/2540)], MMP-2 - 1306C/T [0.869(563/648)/0.131(85/ 648), 0.835(1298/1554)/0.165(256/1554)] and MMP-2 - 735C/T [0.789(511/648)/0.211(137/ 648), 0.748(1163/1554)/0.252(391/1554)] were significantly different between the ethnic populations (chi2 = 7.03, 7.84, 3.94, 4.05, respectively, P <0.05).

CONCLUSION

These findings suggested that STK15 Phe31Ile and MMP-2 -735C/T polymorphisms might be the genetic susceptibility factors for esophageal cancer in Mongolian and there should be some differences of genetic susceptibility to esophageal cancer in between Han ethnic Chinese and Mongolian population.

摘要

目的

研究蒙古族人群中各等位基因的频率及其与食管癌风险的关联，并比较这两个群体中这些多态性的等位基因频率以及对食管癌的易感性。

方法

进行了一项病例对照研究，采用基于聚合酶链反应的限制性片段长度多态性分析（PCR-RFLP）检测了188例蒙古族食管癌患者和324例正常对照者中的8个单核苷酸多态性（SNP），包括FAS - 670G/A、FAS - 1377G/A、FASL - 844T/C、COX-2 - 1290A/G、COX-2 - 1195G/A、STK15 Phe31Ile、MMP-2 - 1306C/T和MMP - 2 - 735C/T。通过无条件逻辑回归计算比值比（OR）和95%置信区间（CI）。然后将结果与汉族人群的报道数据进行比较。

结果

在蒙古族人群中，与STK15 31Ile/Ile基因型相比，STK15 31Phe/Phe基因型携带者患食管癌的风险增加（调整后的OR = 2.20，95% CI：1.12 - 4.31）；与MMP-2 - 735CC基因型相比，MMP-2 - 735TT基因型的受试者患食管癌的风险增加（调整后的OR = 4.82，95% CI：1.59 - 14.60）。然而，其余的SNP与食管癌易感性无关。FASL - 844 T/C [0.264(171/648)/0.736 (477/648)，0.323(418/1296)/0.677(878/1296)]、COX-2 - 1195G/A [0.431(279/648)/0.569(369/ 648)，0.492(1250/2540)/0.508(1290/2540)]、MMP-2 - 1306C/T [0.869(563/648)/0.131(85/ 648)，0.835(1298/1554)/0.165(256/1554)]和MMP-2 - 735C/T [0.789(511/648)/0.211(137/ 648)，0.748(1163/1554)/0.252(391/1554)]的等位基因频率在不同民族群体间存在显著差异（χ2分别为7.03、7.