ArticleNature genetics2010
A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese.
Article in Nature genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 115 papers, 11 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
115 citing papers in PubMed, 11 syntheses or guidelines pooled it, 251 citations in OpenAlex.
- Endometriosis and risk of cardiovascular disease: a systematic review and meta-analysis.BMC public health · 2025Pooled it
- Genetic overlap analysis of endometriosis and asthma identifies shared loci implicating sex hormones and thyroid signalling pathways.Human reproduction (Oxford, England) · 2022Pooled it
- Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.Nature communications · 2019Pooled it
- Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs.Scientific reports · 2018Pooled it
- Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.Nature communications · 2017Pooled it
- Association between endometriosis and the interleukin 1A (IL1A) locus.Human reproduction (Oxford, England) · 2015Pooled it
- Genome-wide association meta-analysis identifies new endometriosis risk loci.Nature genetics · 2012Pooled it
- Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.Human molecular genetics · 2012Pooled it
- Transethnic meta-analysis of genomewide association studies.Genetic epidemiology · 2011Pooled it
- Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets.Human reproduction updatePooled it
- Guidelines for the design, analysis and interpretation of 'omics' data: focus on human endometrium.Human reproduction updatePooled it
- Somatic copy number alterations associated with Japanese or endometriosis in ovarian clear cell adenocarcinoma.PloS one · 2015Trial
- Endometriosis-derived iPSCs reveal conserved stromal maturation and endocrine responsiveness.Science advances · 2026Article
- Monogenic Contributions to Familial Endometriosis: A Scoping Review.Gynecologic and obstetric investigation · 2026Article
- Gene Polymorphisms Determining Sex Hormone-Binding Globulin Levels and Endometriosis Risk.International journal of molecular sciences · 2025Article
- Genome-Wide Association Analyses in Family Triads and Dyads Following Assisted Reproductive Technology.Genetic epidemiology · 2025Article
- Aspirin does not modify cardiovascular event risk in endometriosis in the California Teachers Study.European heart journal open · 2025Article
- The Prognosis of Endometriosis Correlates With Elevated Expression of LncRNA-ANRIL.Obstetrics and gynecology international · 2025Article
- Genetics of female and male reproductive traits and their relationship with health, longevity and consequences for offspring.Nature aging · 2024Review
- Pathogenesis of Endometriosis and Endometriosis-Associated Cancers.International journal of molecular sciences · 2024Review
55 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although the pathogenesis of endometriosis is not well understood, genetic factors have been considered to have critical roles in its etiology. Through a genome-wide association study and a replication study using a total of 1,907 Japanese individuals with endometriosis (cases) and 5,292 controls, we identified a significant association of endometriosis with rs10965235 (P = 5.57 x 10(-12), odds ratio = 1.44), which is located in CDKN2BAS on chromosome 9p21, encoding the cyclin-dependent kinase inhibitor 2B antisense RNA. By fine mapping, the SNP showing the strongest association was located in intron 16 of CDKN2BAS and was implicated in regulating the expression of p15, p16 and p14. A SNP, rs16826658, in the LD block including WNT4 on chromosome 1p36, which is considered to play an important role in the development of the female genital tract, revealed a possible association with endometriosis (P = 1.66 x 10(-6), odds ratio = 1.20). Our findings suggest that these regions are new susceptibility loci for endometriosis.
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Registered trials
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.