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首页> 外文期刊>European journal of human genetics: EJHG >An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inherited non-syndromic predisposition
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An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inherited non-syndromic predisposition

机译：遗传性非综合征易感基因家族中PTGS2 rs5275基因多态性与结直肠癌风险的相关性

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Recently our group completed a genome-wide linkage study investigating Australian and Spanish families with inherited risk of colorectal cancer (CRC). A minor linkage peak from that study located on chromosome 1 correlates with the location of a known CRC risk-modifying gene, prostaglandin synthase (PTGS2). PTGS2 encodes the inducible prostaglandin synthase enzyme cyclooxygenase-2 (COX-2). Prostaglandins are implicated in the initiation of carcinogenesis and progression of tumours. Sequencing of PTGS2 in a small subset of affected individuals identified a high frequency of the minor C allele of single nucleotide polymorphism rs5275. We then genotyped the rs5275 polymorphism in 183 affected and 223 unaffected individuals from our CRC predisposed families. Tests for association in the presence of linkage were made using family-based association tests. The C allele was found to be significantly associated (P<0.01) with diagnosis of hereditary non-syndromic CRC (P=0.0094, dominant model) and an earlier age of diagnosis (P=0.0089, heterozygous-advantage model). Interestingly, by stratifying the age of diagnosis data, we observed a speculative gender-discordant effect. Relative to other groups, female CC carriers were diagnosed less when young, but by 60 years of age were the most at risk group. Conversely, CT carriers of both genders showed a consistently earlier diagnosis relative to TT carriers. Our results suggest potential differential age-and gender-dependent efficacies of chemopreventative COX-2 inhibitors in the context of non-syndromic colorectal cancer.
机译：最近，我们小组完成了一项全基因组连锁研究，以调查患有大肠癌（CRC）遗传风险的澳大利亚和西班牙家庭。该研究中位于染色体1上的次要连锁峰与已知的CRC风险调节基因前列腺素合酶（PTGS2）的位置有关。 PTGS2编码可诱导的前列腺素合酶环加氧酶2（COX-2）。前列腺素与癌变的开始和肿瘤的发展有关。在一小部分受影响个体中，PTGS2的测序确定了单核苷酸多态性rs5275的次要C等位基因的高频率。然后，我们对来自CRC易感家庭的183位受影响和223位未受影响个体的rs5275多态性进行了基因分型。使用基于家庭的关联测试对存在链接的关联进行测试。发现C等位基因与遗传性非综合征CRC的诊断（P = 0.0094，显性模型）和更早的诊断年龄（P = 0.0089，杂合优势模型）显着相关（P <0.01）。有趣的是，通过对诊断数据的年龄进行分层，我们观察到了推测性的性别不一致效应。相对于其他组，女性CC携带者年轻时被诊断得较少，但到60岁是最高的风险组。相反，相对于TT携带者，这两种性别的CT携带者始终显示出更早的诊断。我们的结果表明，在非综合征性结直肠癌的背景下，化学预防性COX-2抑制剂可能具有不同的年龄和性别依赖性。

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