Simpson J L, Elias S, Malinak L R, Buttram V C
Am J Obstet Gynecol. 1980 Jun 1;137(3):327-31. doi: 10.1016/0002-9378(80)90917-5.
Systematic genetic studies in endometriosis apparently have not been conducted; therefore, we studied 123 patients with histologically proved endometriosis. Nine of 153 (5.8%) female sibs (over age 18) of patients with histologically proved endometriosis were considered similarly affected; 10 of 123 mothers (8.1%) were affected; 19 of 276 (6.9%) of all first-degree relatives were affected. By contrast, only one of 104 (1.0%) female sibs of their husbands and only one of 107 (0.9%) mothers of their husbands were affected, significantly (p less than 0.05) less for both sibs and mothers. Several genetic etiologies can be postulated, but polygenic/multifactorial inheritance seems most likely because of (1) the 6.9% recurrence risk for all first-degree relatives and (2) observations that the 18 patients with an affected first-degree relative were more likely to have severe endometriosis than those without an affected first-degree relative.
显然尚未对子宫内膜异位症进行系统的遗传学研究；因此，我们研究了123例经组织学证实患有子宫内膜异位症的患者。经组织学证实患有子宫内膜异位症患者的153名女性同胞（年龄超过18岁）中有9名（5.8%）被认为患有类似疾病；123名母亲中有10名（8.1%）患病；所有一级亲属中276名中有19名（6.9%）患病。相比之下，其丈夫的104名女性同胞中只有1名（1.0%）患病，其丈夫的107名母亲中只有1名（0.9%）患病，同胞和母亲的患病率均显著较低（p<0.05）。可以推测出几种遗传病因，但多基因/多因素遗传似乎最有可能，原因如下：（1）所有一级亲属的复发风险为6.9%；（2）观察发现，有一级亲属患病的18例患者比没有一级亲属患病的患者更易患严重的子宫内膜异位症。
