The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population
Abstract
To identify susceptibility genes for endometriosis in Japanese women, genome-wide association (GWA) analysis was performed using two case-control cohorts genotyped with the Affymetrix Mapping 500K Array or Genome-Wide Human SNP Array 6.0. In each of the two array cohorts, stringent quality control (QC) filters were applied to newly obtained genotype data, together with previously analyzed data from the Japanese Integrated Database Project. After QC-based filtering of samples and single nucleotide polymorphisms (SNPs) in each cohort, 282 838 SNPs in both genotyping platforms were tested for association with endometriosis using a meta-analysis of the two GWA studies with 696 patients with endometriosis and 825 controls. The meta-analysis revealed that a common susceptibility locus conferring a large effect on the disease risk was unlikely. On the other hand, an excess of SNPs with P-values <10(-4) (36 vs 28 SNPs expected by chance) was observed in the meta-analysis. Of note, four of the top five SNPs with P-values <10(-5) were located in and around IL1A (interleukin 1α), which might be a functional candidate gene for endometriosis. Further studies with larger case-control cohorts will be necessary to elucidate the genetic risk factors.
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“The first GWAS study on endometriosis was published between 2010 and 2011—two papers on the Japanese population and one study of European women [180,181,182].”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [181]
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Metadata
- Authors
- Adachi, S., Tajima, A., Quan, J., Haino, K., Yoshihara, K., Masuzaki, H., Katabuchi, H., Ikuma, K., Suginami, H., Nishida, N., Kuwano, R., Okazaki, Y., Kawamura, Y., Sasaki, T., Tokunaga, K., Inoue, I., & Tanaka, K.
- Affiliations
- Niigata University (JP)
- Tokai University (JP)
- Nagasaki University (JP)
- Kumamoto University (JP)
- Takarazuka City Hospital (JP)
- Kyoto Medical Center (JP)
- The University of Tokyo (JP)
- Brain Research Institute, Niigata University (JP)
- Tokyo Metropolitan Matsuzawa Hospital (JP)
- Corresponding author
- Inoue, Ituro
- Tanaka, Kenichi
- ORCID
- Venue
- Journal of Human Genetics
- Published
- 2010-09-16
- Volume
- 55
- Issue
- 12
- Pages
- 816-821
- ISSN
- 1434-5161 (ISSN-L)
- 1435-232X
- OpenAlex
- W2049790971
- Cited by
- 103
- References
- 32
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 2 · 2023: 5 · 2022: 5 · 2021: 10 · 2020: 5 · 2019: 8 · 2018: 11 · 2017: 8 · 2016: 10 · 2015: 8 · 2014: 6 · 2013: 11 · 2012: 4
- FWCI
- 0.94
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ministry of Education, Culture, Sports, Science and Technology
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- endometriosis, genetic susceptibility, susceptibility genes, single nucleotide polymorphisms, Japanese women, interleukin-1 alpha, genetic risk factors
- MeSH terms
- Adult, Endometriosis, Female, Humans, Cohort Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Asian People, Interleukin-1alpha, Genome-Wide Association Study
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