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首页> 外文期刊>Journal of endometriosis and pelvic pain disorders. >Genetic risk factors for endometriosis
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Genetic risk factors for endometriosis

机译：子宫内膜异位的遗传风险因素

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摘要

Advances in genetics and genomics are driving progress in understanding genetic risk factors for endometriosis. Genome-wide association scans (GWAS) in endometriosis have identified 11 genomic regions associated with increased risk of disease. Many of the regions contain interesting candidate genes, but the risk alleles may not always act through the obvious candidates. Functional evidence to identify the causal gene(s) will require multiple steps including better mapping precision, genetic studies on gene expression and epigenetic marks, chromatin looping and functional studies. Evidence from gene expression studies in endometrium and chromatin looping experiments implicate CDC42 on chromosome 1, CDKN2B-AS1 on chromosome 9 and VEZT on chromosome 12 as likely causal genes in these regions. Confirming the causal gene(s) in these and other regions will identify the important pathways increasing risk for endometriosis and identify novel targets for interventions to improve diagnosis and treatment.
机译：遗传学和基因组学的进步推动进步在理解遗传危险因素子宫内膜异位。(GWAS)在子宫内膜异位症已经确定11基因组区域的风险增加相关疾病。候选基因,但风险等位基因可能不是总是通过明显的候选人。功能确定因果关系的证据包括基因(s)将需要多个步骤更好的映射精度,遗传基因的研究表达和表观遗传标记,染色质循环和功能研究。在子宫内膜和基因表达研究染色质循环实验表明CDC421号染色体CDKN2B-AS1 9号染色体上,VEZT12号染色体上可能在这些因果基因地区。和其他地区将识别重要途径增加患子宫内膜异位和确定干预措施的新目标提高诊断和治疗。

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