ArticleAmerican journal of human genetics2005
Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26.
Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 4 of them syntheses that pooled it.
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Who cites it
69 citing papers in PubMed, 4 syntheses or guidelines pooled it, 192 citations in OpenAlex.
- Genome-wide association meta-analysis identifies new endometriosis risk loci.Nature genetics · 2012Pooled it
- Genome-wide linkage and association analyses implicate FASN in predisposition to Uterine Leiomyomata.American journal of human genetics · 2012Pooled it
- High-density fine-mapping of a chromosome 10q26 linkage peak suggests association between endometriosis and variants close to CYP2C19.Fertility and sterility · 2011Pooled it
- Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets.Human reproduction updatePooled it
- Endometriosis phenotypes and staging in relation to lipid biomarkers: Findings from the ENDO Cohort Study.Journal of gynecology obstetrics and human reproduction · 2026Article
- Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study.Journal of human genetics · 2024Article
- Pathogenesis of Endometriosis and Endometriosis-Associated Cancers.International journal of molecular sciences · 2024Review
- Association of endometriosis with Sjögren's syndrome: Genetic insights (Review).International journal of molecular medicine · 2024Review
- Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis.Human genomics · 2023Article
- Impact of lifestyle and diet on endometriosis: a fresh look to a busy corner.Przeglad menopauzalny = Menopause review · 2022Review
- Molecular Basis of Endometriosis and Endometrial Cancer: Current Knowledge and Future Perspectives.International journal of molecular sciences · 2021Review
- Genetic Relationship Between Endometriosis and Melanoma.Frontiers in reproductive health · 2021Article
- Genetics in human reproduction.JBRA assisted reproduction · 2020Review
- Genetic, Epigenetic, and Steroidogenic Modulation Mechanisms in Endometriosis.Journal of clinical medicine · 2020Review
- Endometriosis: A Malignant Fingerprint.Journal of cancer research and therapeutic oncology · 2020Article
- Genetic Characterization of Endometriosis Patients: Review of the Literature and a Prospective Cohort Study on a Mediterranean Population.International journal of molecular sciences · 2020Review
- The Pathogenesis of Endometriosis: Molecular and Cell Biology Insights.International journal of molecular sciences · 2019Review
- Rethinking mechanisms, diagnosis and management of endometriosis.Nature reviews. Endocrinology · 2019Review
- Endometriosis.Endocrine reviews · 2019Review
- Defining the genetic profile of endometriosis.Experimental and therapeutic medicine · 2019Review
9 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
17 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Endometriosis is a common gynecological disease that affects up to 10% of women in their reproductive years. It causes pelvic pain, severe dysmenorrhea, and subfertility. The disease is defined as the presence of tissue resembling endometrium in sites outside the uterus. Its cause remains uncertain despite >50 years of hypothesis-driven research, and thus the therapeutic options are limited. Disease predisposition is inherited as a complex genetic trait, which provides an alternative route to understanding the disease. We seek to identify susceptibility loci, using a positional-cloning approach that starts with linkage analysis to identify genomic regions likely to harbor these genes. We conducted a linkage study of 1,176 families (931 from an Australian group and 245 from a U.K. group), each with at least two members--mainly affected sister pairs--with surgically diagnosed disease. We have identified a region of significant linkage on chromosome 10q26 (maximum LOD score [MLS] of 3.09; genomewide P = .047) and another region of suggestive linkage on chromosome 20p13 (MLS = 2.09). Minor peaks (with MLS > 1.0) were found on chromosomes 2, 6, 7, 8, 12, 14, 15, and 17. This is the first report of linkage to a major locus for endometriosis. The findings will facilitate discovery of novel positional genetic variants that influence the risk of developing this debilitating disease. Greater understanding of the aberrant cellular and molecular mechanisms involved in the etiology and pathophysiology of endometriosis should lead to better diagnostic methods and targeted treatments.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.