Zondervan Krina T, Weeks Daniel E, Colman Ricki, Cardon Lon R, Hadfield Ruth, Schleffler Joan, Trainor Amanda Goudy, Coe Christopher L, Kemnitz Joseph W, Kennedy Stephen H
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.
Hum Reprod. 2004 Feb;19(2):448-55. doi: 10.1093/humrep/deh052.
Endometriosis occurs in several non-human primate species that have menstrual cycles. This study investigated the prevalence and familial aggregation of endometriosis in one of those species, the rhesus macaque.
Between 1978 and 2001, 142 animals with endometriosis were identified from necropsy and surgical records and through the use of magnetic resonance imaging (MRI) at the Wisconsin National Primate Research Center, Madison, USA. All cases were used to build one large multigenerational pedigree and nine nuclear families comprising 1602 females in total. By 2002, the pedigrees contained 124 cases diagnosed at necropsy; 17 at surgery and three at MRI. Female animals that had died aged > or = 10 years without endometriosis, had both ovaries until at least 1 year prior to death, and had a full necropsy, were considered unaffected.
The prevalence of endometriosis among necropsied animals aged > or = 10 years in the colony was 31.4% [95% confidence interval (CI) 26.9-35.9%]; prevalence increased with rising age and calendar age at death. Familial aggregation of endometriosis was strongly suggested by a significantly higher average kinship coefficient among affecteds compared with unaffecteds (P < 0.001) and a higher recurrence risk for full sibs (0.75; 95% CI 0.45-1.0) compared with maternal half sibs (0.26; 95% CI 0.10-0.41) and paternal half sibs (0.18; 95% CI 0.02-0.34). The segregation ratio among affected mothers (44.2%) was not significantly higher compared with unaffected mothers (36.6%).
The results support familial aggregation of endometriosis in the rhesus macaque, and indicate that this is a promising animal model for the investigation of mode of inheritance, the location of potential genetic susceptibility loci and the influence of environmental factors.
子宫内膜异位症发生于几种具有月经周期的非人灵长类动物物种中。本研究调查了其中一种物种——恒河猴子宫内膜异位症的患病率及家族聚集性。
1978年至2001年间，在美国麦迪逊市的威斯康星国家灵长类动物研究中心，通过尸检和手术记录以及使用磁共振成像（MRI），识别出142例患有子宫内膜异位症的动物。所有病例用于构建一个大型多代系谱和9个核心家庭，总共包括1602只雌性动物。到2002年，系谱中包含124例尸检确诊病例；17例手术确诊病例和3例MRI确诊病例。年龄≥10岁且无子宫内膜异位症、在死亡前至少1年双侧卵巢均存在且进行了完整尸检的雌性动物被视为未受影响。
该群体中年龄≥10岁的尸检动物子宫内膜异位症患病率为31.4%[95%置信区间（CI）26.9 - 35.9%]；患病率随年龄增长和死亡时的日历年龄增加而上升。与未受影响者相比，受影响者之间的平均亲缘系数显著更高（P < 0.001），且全同胞的复发风险更高（0.75；95% CI 0.45 - 1.0），这强烈提示了子宫内膜异位症的家族聚集性，而母系半同胞（0.26；95% CI 0.10 - 0.41）和父系半同胞（0.18；95% CI 0.02 - 0.34）的复发风险较低。受影响母亲的分离率（44.2%）与未受影响母亲（36.6%）相比无显著更高。
结果支持恒河猴子宫内膜异位症的家族聚集性，并表明这是一种用于研究遗传模式、潜在遗传易感性位点位置以及环境因素影响的有前景的动物模型。
