2012年10月31日 讯 /生物谷BIOON/ --子宫内膜异位症(endometriosis)是指有生长功能的子宫内膜出现于正常子宫内壁以外的部位。这种疾病导致骨盆疼痛、月经失调、瘢痕和组织损伤。
在一项新的研究中，来自澳大利亚昆士兰医学研究所的研究人员对5640名患有子宫内膜异位症的澳大利亚人、日本人和欧洲人进行全基因组研究，结果最终鉴定出与子宫内膜异位症相关联的4个新的基因区域。这就有助于人们理解这种经常让人疼痛的妇科疾病。
论文第一作者、昆士兰医学研究所副教授Dale Nyholt说，对一种人们知之甚少的疾病而言，这些发现是项重大的基因发现。
“这些发现将有助于我们鉴定出子宫内膜异位症的内在生物学机制，这样我们最终就能够利用这种机制来开发出新的诊断方法和治疗方案。”
相关研究结果发表在Nature Genetics期刊上。(生物谷Bioon.com)
doi: 10.1038/ng.2445
PMC:
PMID:
Genome-wide association meta-analysis identifies new endometriosis risk loci
Dale R Nyholt, Siew-Kee Low, Carl A Anderson, Jodie N Painter, Satoko Uno, Andrew P Morris, Stuart MacGregor, Scott D Gordon, Anjali K Henders, Nicholas G Martin, John Attia, Elizabeth G Holliday, Mark McEvoy, Rodney J Scott, Stephen H Kennedy, Susan A Treloar, Stacey A Missmer, Sosuke Adachi, Kenichi Tanaka, Yusuke Nakamura, Krina T Zondervan, Hitoshi Zembutsu & Grant W Montgomery
We conducted a genome-wide association meta-analysis of 4,604 endometriosis cases and 9,393 controls of Japanese1 and European2 ancestry. We show that rs12700667 on chromosome 7p15.2, previously found to associate with disease in Europeans, replicates in Japanese (P = 3.6 × 10−3), and we confirm association of rs7521902 at 1p36.12 near WNT4. In addition, we establish an association of rs13394619 in GREB1 at 2p25.1 with endometriosis and identify a newly associated locus at 12q22 near VEZT (rs10859871). Excluding cases of European ancestry of minimal or unknown severity, we identified additional previously unknown loci at 2p14 (rs4141819), 6p22.3 (rs7739264) and 9p21.3 (rs1537377). All seven SNP effects were replicated in an independent cohort and associated at P <5 × 10−8 in a combined analysis. Finally, we found a significant overlap in polygenic risk for endometriosis between the genome-wide association cohorts of European and Japanese descent (P = 8.8 × 10−11), indicating that many weakly associated SNPs represent true endometriosis risk loci and that risk prediction and future targeted disease therapy may be transferred across these populations.
