2012年10月31日 訊 /生物谷BIOON/ --子宮內(nèi)膜異位癥(endometriosis)是指有生長功能的子宮內(nèi)膜出現(xiàn)于正常子宮內(nèi)壁以外的部位,。這種疾病導(dǎo)致骨盆疼痛,、月經(jīng)失調(diào),、瘢痕和組織損傷,。
在一項新的研究中,，來自澳大利亞昆士蘭醫(yī)學(xué)研究所的研究人員對5640名患有子宮內(nèi)膜異位癥的澳大利亞人,、日本人和歐洲人進行全基因組研究,，結(jié)果最終鑒定出與子宮內(nèi)膜異位癥相關(guān)聯(lián)的4個新的基因區(qū)域,。這就有助于人們理解這種經(jīng)常讓人疼痛的婦科疾病。
論文第一作者,、昆士蘭醫(yī)學(xué)研究所副教授Dale Nyholt說,，對一種人們知之甚少的疾病而言，這些發(fā)現(xiàn)是項重大的基因發(fā)現(xiàn),。
“這些發(fā)現(xiàn)將有助于我們鑒定出子宮內(nèi)膜異位癥的內(nèi)在生物學(xué)機制,，這樣我們最終就能夠利用這種機制來開發(fā)出新的診斷方法和治療方案。”
相關(guān)研究結(jié)果發(fā)表在Nature Genetics期刊上,。(生物谷Bioon.com)
doi: 10.1038/ng.2445
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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.
