6p21.1 处的基因变异与中国汉族人群的头颈癌相关。

Genetic variants at 6p21.1 are associated with head and neck cancer in Chinese Han population.

作者信息

Wang Ruixia, Zhu Longbiao, Zhang Yu, Miao Limin, Ma Hongxia, Yuan Hua, Chen Ning

机构信息

Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing, Jiangsu, China.

Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing, Jiangsu, China Section of Clinical Epidemiology, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Cancer Centre, Nanjing Medical University, Nanjing, Jiangsu, China.

出版信息

Cancer Biomark. 2015;15(1):27-32. doi: 10.3233/CBM-140442.

DOI:10.3233/CBM-140442

PMID:25524939

Abstract

BACKGROUND

A recent study synthesized several published genome-wide association studies (GWAS) on three types of cancers and identified variants at 6p21.1 and 7p15.3 as candidate susceptibility loci for multiple types of human cancers. However, the role of these loci in the development of head and neck cancer (HNC) is still unclear.

METHODS

To evaluate the relationships between genetic variants in these regions and HNC risk, we genotyped two common SNPs rs2494938 at 6p21.1 and rs2285947 at 7p15.3 in a case-control study with a total of 503 HNC cases and 900 controls in Han Chinese.

RESULTS

We found that rs2494938 at 6p21.1 was associated with a significantly increased risk of HNC in our population [AA vs. GG: adjusted odds ratio (OR)=1.84, 95% confidence interval (CI)=1.13-3.00, P=0.014; AAvs.

GA/GG: adjusted OR=1.78, 95% CI=1.10-2.87, P=0.018]. However, no significant association was observed between rs2285947 at 7p15.3 and HNC risk.

CONCLUSION

Our results suggest that genetic variants at 6p21.1 may play an important role in HNC development in Han Chinese, and rs2494938 may be a candidate marker for HNC susceptibility.

摘要

背景

最近一项研究综合了几项已发表的关于三种癌症的全基因组关联研究（GWAS），并将6p21.1和7p15.3处的变异鉴定为多种人类癌症的候选易感位点。然而，这些位点在头颈部癌（HNC）发生发展中的作用仍不清楚。

方法

为了评估这些区域的基因变异与HNC风险之间的关系，我们在一项病例对照研究中对6p21.1处的两个常见单核苷酸多态性（SNP）rs2494938和7p15.3处的rs2285947进行了基因分型，该研究共纳入了503例HNC病例和900名汉族对照。

结果

我们发现，在我们的研究人群中，6p21.1处的rs2494938与HNC风险显著增加相关[AA与GG相比：校正比值比（OR）=1.84，95%置信区间（CI）=1.13 - 3.00，P = 0.014；AA与GA/GG相比：校正OR = 1.78，95% CI = 1.10 - 2.87，P = 0.018]。然而，未观察到7p15.3处的rs2285947与HNC风险之间存在显著关联。