小柯机器人

英国牛津大学等研究人员合作报道子宫内膜异位症的遗传基础以及与其他疼痛和炎症的合并情况。2023年3月13日，《自然—遗传学》杂志在线发表了这项成果。

通过一项全基因组关联研究荟萃分析，包括60674个病例和701926个欧洲和东亚血统的对照，研究人员确定了42个全基因组显著的位点，包括49个不同的关联信号。3/4期疾病的效应大小最大，由卵巢子宫内膜异位症驱动。研究人员发现的信号解释了高达5.01%的疾病变异，并调节子宫内膜和血液中基因的表达或甲基化，其中许多与疼痛感知/维持有关（SRP14/BMF、GDAP1、MLLT10、BSN和NGF）。

研究人员观察到子宫内膜异位症和11种疼痛状况之间存在明显的遗传相关性，包括偏头痛、背部和多部位慢性疼痛（MCP），以及炎症状况，包括哮喘和骨关节炎。多性状遗传分析确定了与子宫内膜异位症和MCP/偏头痛相关变体的大量共享。后续的研究需要对子宫内膜异位症和其他疼痛症状之间共享的遗传调节机制进行有针对性的调查，以帮助开发新的治疗方法并促进早期症状干预。

据介绍，子宫内膜异位症是一种常见的疾病，与衰弱的盆腔疼痛和不孕症有关。

附：英文原文

Title: The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

Author: Rahmioglu, Nilufer, Mortlock, Sally, Ghiasi, Marzieh, Mller, Peter L., Stefansdottir, Lilja, Galarneau, Genevive, Turman, Constance, Danning, Rebecca, Law, Matthew H., Sapkota, Yadav, Christofidou, Paraskevi, Skarp, Sini, Giri, Ayush, Banasik, Karina, Krassowski, Michal, Lepamets, Maarja, Marciniak, Baej, Nukas, Margit, Perro, Danielle, Sliz, Eeva, Sobalska-Kwapis, Marta, Thorleifsson, Gudmar, Topbas-Selcuki, Nura F., Vitonis, Allison, Westergaard, David, Arnadottir, Ragnheidur, Burgdorf, Kristoffer S., Campbell, Archie, Cheuk, Cecilia S. K., Clementi, Caterina, Cook, James, De Vivo, Immaculata, DiVasta, Amy, Dorien, O., Donoghue, Jacqueline F., Edwards, Todd, Fontanillas, Pierre, Fung, Jenny N., Geirsson, Reynir T., Girling, Jane E., Harkki, Paivi, Harris, Holly R., Healey, Martin, Heikinheimo, Oskari, Holdsworth-Carson, Sarah, Hostettler, Isabel C., Houlden, Henry, Houshdaran, Sahar, Irwin, Juan C., Jarvelin, Marjo-Riitta, Kamatani, Yoichiro, Kennedy, Stephen H., Kepka, Ewa, Kettunen, Johannes, Kubo, Michiaki, Kulig, Bartosz, Kurra, Venla, Laivuori, Hannele, Laufer, Marc R., Lindgren, Cecilia M., MacGregor, Stuart, Mangino, Massimo

Issue&Volume: 2023-03-13

Abstract: Endometriosis is a common condition associated with debilitating pelvic pain and infertility. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genome-wide significant loci comprising 49 distinct association signals. Effect sizes were largest for stage 3/4 disease, driven by ovarian endometriosis. Identified signals explained up to 5.01% of disease variance and regulated expression or methylation of genes in endometrium and blood, many of which were associated with pain perception/maintenance (SRP14/BMF, GDAP1, MLLT10, BSN and NGF). We observed significant genetic correlations between endometriosis and 11 pain conditions, including migraine, back and multisite chronic pain (MCP), as well as inflammatory conditions, including asthma and osteoarthritis. Multitrait genetic analyses identified substantial sharing of variants associated with endometriosis and MCP/migraine. Targeted investigations of genetically regulated mechanisms shared between endometriosis and other pain conditions are needed to aid the development of new treatments and facilitate early symptomatic intervention.

DOI: 10.1038/s41588-023-01323-z

Source: https://www.nature.com/articles/s41588-023-01323-z

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