Balaji Lakshmi, Lakkakula Bhaskar V K S, Krishna Balaji Singh, Paul Solomon F D
Department of Endodontics, Sri Ramachandra Dental College and Hospital, Sri Ramachandra University, Chennai, India.
Genet Test Mol Biomarkers. 2011 Sep;15(9):595-9. doi: 10.1089/gtmb.2010.0260. Epub 2011 Mar 31.
As genetic variation is thought to contribute to the etiology of oral cancer, microsomal epoxide hydrolase (EPHX1) was chosen as a candidate gene. This study thus sought to investigate possible genetic associations between the rs1051740, rs2292566, and rs2234922 polymorphisms of EPHX1 and oral cancer. Oral cancer patients (n=157) and healthy control subjects (n=132) were screened for the genotypes using TaqMan allelic discrimination. The associations between genotypes, alleles, and haplotypes of the three mutations and oral cancer were then analyzed using a case-control study. All the three single-nucleotide polymorphisms were polymorphic, with minor allele frequencies of 0.368, 0.249, and 0.232, respectively, for rs1051740, rs2292566, and rs2234922. None of the polymorphic sites deviated from Hardy-Weinberg equilibrium. There were no significant differences in genotype or allele frequencies of three single-nucleotide polymorphisms between controls and cases with oral cancer. Of the three studied polymorphisms, two were in strong linkage disequilibrium and formed one haplotype block. None of the haplotypes showed significant association with oral cancer. EPHX1 gene polymorphisms and haplotypes were not involved in the susceptibility to oral cancer in South Indian subjects.
由于遗传变异被认为与口腔癌的病因有关，微粒体环氧化物水解酶（EPHX1）被选为候选基因。因此，本研究旨在调查EPHX1基因的rs1051740、rs2292566和rs2234922多态性与口腔癌之间可能存在的遗传关联。使用TaqMan等位基因鉴别技术对157例口腔癌患者和132例健康对照者进行基因型筛查。然后采用病例对照研究分析这三种突变的基因型、等位基因和单倍型与口腔癌之间的关联。所有这三个单核苷酸多态性均具有多态性，rs1051740、rs2292566和rs2234922的次要等位基因频率分别为0.368、0.249和0.232。没有一个多态性位点偏离哈迪-温伯格平衡。口腔癌患者与对照者之间这三个单核苷酸多态性的基因型或等位基因频率没有显著差异。在所研究的三个多态性中，有两个处于强连锁不平衡状态并形成一个单倍型块。没有一个单倍型与口腔癌显示出显著关联。在南印度人群中，EPHX1基因多态性和单倍型与口腔癌易感性无关。
