8q24 易感癌症区域内的多态性与分化型甲状腺癌的风险

Risk of differentiated thyroid carcinoma and polymorphisms within the susceptibility cancer region 8q24.

机构信息

Authors' Affiliations: Department of Biology, University of Pisa, Pisa; Center for Integrated Biology, University of Trento, Trento; Department of Endocrinology and Metabolism, Orthopaedics and Traumatology, Occupational Medicine, University of Pisa, Pisa; and Operative Unit of Laboratory of Clinical Chemistry Analyses, University Hospital of Cisanello, Pisa, Italy.

出版信息

Cancer Epidemiol Biomarkers Prev. 2013 Nov;22(11):2121-5. doi: 10.1158/1055-9965.EPI-13-0790. Epub 2013 Sep 5.

DOI:10.1158/1055-9965.EPI-13-0790

PMID:24008490

Abstract

BACKGROUND

Genome-wide association studies have shown that the 8q24 region harbours multiple independent cancer susceptibility loci and it was also defined as the "susceptibility cancer region." Thus, it could be hypothesized that genetic variants within this region could play a role in the risk of differentiated thyroid carcinoma (DTC).

METHODS

Six single-nucleotide polymorphisms within 8q24 were analyzed, previously associated with the risk of cancer (i.e., rs6983267, rs1447295, rs10808556, rs7000448, rs13254738, and rs13281615) in a population of 1,250 patients affected by DTC and 1,250 controls from Central and Southern Italy.

RESULTS

A strong association between smoking habit and risk of DTC was found [OR, 1.63; 95% confidence interval (CI), 1.39-1.91; P < 10(-6)]. The polymorphisms rs10808556 and rs1447295 showed an association with the risk of DTC (the strongest were the heterozygotes with OR, 1.38; 95% CI, 1.13-1.68 and OR, 1.35; 95% CI, 1.02-1.78, respectively), but, overall, they were unable to reach the statistically significant threshold following Bonferroni's correction.

CONCLUSIONS

Present study suggested a limited involvement of polymorphisms within 8q24 region in relation to the risk of DTC in Central and Southern Italians.

IMPACT

The exclusion of a relationship between DTC and 8q24 among Italians further highlights the tissue-specificity of this chromosomal segment in relation to human cancer and stresses the importance of other population-specific cofactors.

摘要

背景

全基因组关联研究表明，8q24 区域含有多个独立的癌症易感性位点，该区域也被定义为“癌症易感性区域”。因此，可以假设该区域内的遗传变异可能在分化型甲状腺癌（DTC）的风险中发挥作用。

方法

分析了 8q24 内与癌症风险相关的 6 个单核苷酸多态性（即 rs6983267、rs1447295、rs10808556、rs7000448、rs13254738 和 rs13281615），在意大利中部和南部的 1250 例 DTC 患者和 1250 例对照中进行了分析。

结果

发现吸烟习惯与 DTC 风险之间存在强烈关联[比值比（OR），1.63；95%置信区间（CI），1.39-1.91；P < 10(-6)]。多态性 rs10808556 和 rs1447295 与 DTC 风险相关（最强的是杂合子，OR 为 1.38；95%CI，1.13-1.68 和 OR 为 1.35；95%CI，1.02-1.78），但总体而言，在进行 Bonferroni 校正后，它们无法达到统计学显著阈值。