Familial aggregation of endometriosis in a large pedigree of rhesus macaques
Abstract
BACKGROUND: 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. METHODS: 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. RESULTS: 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%). CONCLUSIONS: 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.
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Studies in Australian twins, the Icelandic population, and rhesus macaques provide strong evidence for a genetic contribution to endometriosis, with heritability estimated to be around 50%.
“However, studies in Australian twins, 45 in the Icelandic population, 43 and in rhesus macaques 49 provide strong evidence for a genetic contribution to the disease with the heritability of endometriosis estimated to be around 50%. 45”
From Defining Future Directions for Endometriosis Research: Workshop Report From the 2011 World Congress of Endometriosis in Montpellier, France (2013) · cites this paper as [49]
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- Authors
- Zondervan, K. T.
- Affiliations
- Centre for Human Genetics (GB)
- Corresponding author
- Zondervan, K. T.
- ORCID
- Zondervan, K. T.
- Venue
- Human Reproduction
- Publisher
- Oxford University Press (OUP)
- Published
- 2004-02-01
- Volume
- 19
- Issue
- 2
- Pages
- 448-455
- ISSN
- 0268-1161 (ISSN-L)
- 1460-2350
- OpenAlex
- W2168412098
- Cited by
- 99
- References
- 26
- Citations by year
- 2025: 2 · 2024: 2 · 2023: 3 · 2022: 4 · 2021: 5 · 2020: 2 · 2019: 6 · 2018: 6 · 2017: 6 · 2016: 5 · 2015: 6 · 2014: 2 · 2013: 4 · 2012: 7
- FWCI
- 5.52
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Reproduction (publishedVersion)
- PubMed (publishedVersion)
- Funders
- University of Wisconsin-Madison
- National Institutes of Health
- National Center for Research Resources (RR 00167, P51RR000167)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Health Sciences › Veterinary › Small Animals › Veterinary Medicine and Surgery
- Life Sciences › Agricultural and Biological Sciences › Ecology, Evolution, Behavior and Systematics › Plant and fungal interactions
- Keywords
- endometriosis, familial aggregation, rhesus monkeys, nonhuman primate model, endometriosis prevalence, recurrence risk, kinship coefficient, segregation ratio, mode of inheritance, genetic susceptibility loci, age at death
- MeSH terms
- Age Factors, Animals, Disease Models, Animal, Endometriosis, Female, Macaca mulatta, Magnetic Resonance Imaging, Monkey Diseases, Pedigree, Genetic Predisposition to Disease
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