The assessment of GWAS—Identified polymorphisms associated with infertility risk in Polish women with endometriosis
Open accessAbstract
OBJECTIVES: Genome-wide association studies in patients with endometriosis revealed ten significant single nucleo-tide polymorphisms (SNPs) in the Caucasian population, which include rs12700667 near NFE2L3, rs12037376 in WNT4, rs7521902 near WNT4, rs13394619 in GREB1, rs10859871 near VEZT, rs1537377 near CDKN2B-AS1, rs4141819 near ETAA1, rs7739264 near ID4, rs1519761 near RND3 and rs6542095 near IL1A. MATERIAL AND METHODS: We replicated ten polymorphisms among infertile women with endometriosis (n = 315) and healthy fertile women (n = 406) in the Polish Caucasian population. Genotyping was conducted either by high-resolution melting curve analysis or by a pre-designed TaqMan probe. RESULTS: For all infertile women with endometriosis, the p values of the Cochran-Armitage trend test for the rs12700667 SNP was ptrend = 0.038 and the odds ratio (OR) for the risk allele frequency (RAF) of rs12700667 was 1.304 (95% CI = 1.009-1.685; p = 0.042). In patients with endometriosis with severity stages III/IV, ptrend for rs12700667 SNP was 0.036 and OR for the RAF was 1.394 (95% CI = 1.010-1.923; p = 0.043). In infertile women with endometriosis with severity stages III/IV for rs4141819 SNP, we observed ptrend = 0.026 and for RAF the OR = 1.350 (95% CI = 1.032-1.766; p = 0.029). CONCLUSIONS: Our results demonstrate association of RAF of rs12700667 and rs4141819 SNPs with infertility in Polish women with advanced endometriosis.
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The AG genotype of rs383369 of the LILRB2 gene predisposes to endometriosis and its progression.
“The AA genotypes of the rs41308748 polymorphism of the LILRB1 gene and AG rs383369 of the LILRB2 gene predisposed to endometriosis and its progression.”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [193]
The CT genotype of the rs1233334 polymorphism of HLA-G plays a protective role against endometriosis progression.
“It was shown that the GG genotype of the rs1632947 polymorphism of the HLA-G gene played a protecting role against disease and its severe stages; similarly, the CT genotype of the polymorphism rs1233334 HLA-G played a protective role against disease progression.”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [193]
No association of polymorphism of the KIR2DL4 gene with endometriosis was observed.
“No association of polymorphism of the KIR2DL4 gene with endometriosis was observed [193].”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [193]
The GG genotype of the rs1632947 polymorphism of the HLA-G gene plays a protecting role against endometriosis and its severe stages.
“It was shown that the GG genotype of the rs1632947 polymorphism of the HLA-G gene played a protecting role against disease and its severe stages; similarly, the CT genotype of the polymorphism rs1233334 HLA-G played a protective role against disease progression.”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [193]
Polymorphisms rs12700667 and rs4141819 of the RAF gene are related to infertility in women with advanced endometriosis.
“The work of another team of Polish researchers showed the relationship of polymorphisms rs12700667 and rs4141819 of the RAF gene with infertility in women with advanced endometriosis [193].”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [193]
The AA genotype of the rs41308748 polymorphism of the LILRB1 gene predisposes to endometriosis and its progression.
“The AA genotypes of the rs41308748 polymorphism of the LILRB1 gene and AG rs383369 of the LILRB2 gene predisposed to endometriosis and its progression.”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [193]
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- Authors
- Osiński, M., Mostowska, A., Wirstlein, P., Wender-Ożegowska, E., Jagodziński, P. P., & Szczepańska, M.
- Affiliations
- Poznan University of Medical Sciences (PL)
- Venue
- Ginekologia Polska
- Publisher
- VM Media SP. zo.o VM Group SK
- Published
- 2018-06-29
- Volume
- 89
- Issue
- 6
- Pages
- 304-310
- ISSN
- 0017-0011 (ISSN-L)
- 2543-6767
- OpenAlex
- W2841955214
- Cited by
- 19
- References
- 34
- Citations by year
- 2025: 3 · 2024: 4 · 2023: 2 · 2022: 2 · 2021: 3 · 2020: 5
- FWCI
- 2.14
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by-nc-nd
- Locations
- Ginekologia Polska (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Via Medica Journals (submittedVersion)
- Funders
- Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Immunology and Microbiology › Immunology › Reproductive System and Pregnancy
- Keywords
- endometriosis, female infertility, single nucleotide polymorphisms, genetic susceptibility, NFE2L3, Wnt4, CDKN2B-AS1, endometriosis severity, Polish women, interleukin-1 alpha, Rnd3
- MeSH terms
- Adult, Carrier Proteins, Endometriosis, Female, Humans, Infertility, Female, Poland, Case-Control Studies, Sequence Analysis, DNA, Polymorphism, Single Nucleotide, White People, Genome-Wide Association Study
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