据国外媒体报道来自中国、新加坡和美国的专家组成的研究小组,对中国南方的10000名志愿者进行了基因方面的研究。有一半的志愿者被诊断出患有鼻咽癌,另外一半比较健康。在患有鼻咽癌的一组志愿者中,三个基因发生了变异。
这三个基因分别名为TNFRSF19、MDSIEVI1 和 CDKN2A/2B,这些基因与白血病有联系。研究报告称,该项发现极为重要,他们可以详细了解鼻咽癌的分子路径,解释该病为何在中国南方非常流行,特别是在广东省。
在这部分区域,每10万人中就会有25人得鼻咽癌,比世界其它地区平均高出25倍。只有在阿拉斯加州、非洲北部部分地区以及东南亚有相似的高发病率。
该项研究由位于广州的中山大学癌症研究中心和新加坡基因组协会联合开展。
鼻和喉部癌症有遗传因素。而吸烟是主要的病因。在鼻咽癌患者中,食用盐渍的食物,以及高巴尔二氏病毒的食物的人居多。
(生物谷Bioon.com)
关于GWAS
Nucleic Acids Res.:基于通路的GWAS数据网络分析平台开发成功
高烧的GWAS——生物谷盘点2009
AJHG:中国人基因差异研究
JGV:发现鼻咽癌血清诊断新标记
生物谷推荐原文出处:
Nature Genetics doi:10.1038/ng.601
A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci
Jin-Xin Bei1,2,9, Yi Li3,9, Wei-Hua Jia1,2, Bing-Jian Feng1,2,4, Gangqiao Zhou5, Li-Zhen Chen1,2, Qi-Sheng Feng1,2, Hui-Qi Low3, Hongxing Zhang5, Fuchu He5, E Shyong Tai6,7, Tiebang Kang1,2, Edison T Liu8, Jianjun Liu1,3,10 & Yi-Xin Zeng1,2,10
To identify genetic susceptibility loci for nasopharyngeal carcinoma (NPC), a genome-wide association study was performed using 464,328 autosomal SNPs in 1,583 NPC affected individuals (cases) and 1,894 controls of southern Chinese descent. The top 49 SNPs from the genome-wide association study were genotyped in 3,507 cases and 3,063 controls of southern Chinese descent from Guangdong and Guangxi. The seven supportive SNPs were further confirmed by transmission disequilibrium test analysis in 279 trios from Guangdong. We identified three new susceptibility loci, TNFRSF19 on 13q12 (rs9510787, Pcombined = 1.53 × 10?9, odds ratio (OR) = 1.20), MDS1-EVI1 on 3q26 (rs6774494, Pcombined = 1.34 × 10?8, OR = 0.84) and the CDKN2A-CDKN2B gene cluster on 9p21 (rs1412829, Pcombined = 4.84 × 10?7, OR = 0.78). Furthermore, we confirmed the role of HLA by revealing independent associations at rs2860580 (Pcombined = 4.88 × 10?67, OR = 0.58), rs2894207 (Pcombined = 3.42 × 10?33, OR = 0.61) and rs28421666 (Pcombined = 2.49 × 10?18, OR = 0.67). Our findings provide new insights into the pathogenesis of NPC by highlighting the involvement of pathways related to TNFRSF19 and MDS1-EVI1 in addition to HLA molecules.