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Vol 89, No 6 (2018)
Research paper
Published online: 2018-06-29
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The assessment of GWAS — identified polymorphisms associated with infertility risk in Polish women with endometriosis

Maciej Osiński1, Adrianna Mostowska2, Przemyslaw Wirstlein1, Ewa Wender-Ożegowska1, Paweł Piotr Jagodziński2, Małgorzata Szczepańska2
DOI: 10.5603/GP.a2018.0052
·
Pubmed: 30010178
·
Ginekol Pol 2018;89(6):304-310.
Affiliations
  1. Department of Obstetrics, Gynecology and Gynecological Oncology, Division of Reproduction University of Medical Sciences Karol Marcinkowski, 33 Polna St, 60-535 Poznań, Poland
  2. Department of Biochemistry and Molecular Biology University of Medical Sciences Karol Marcinkowski, 6 Święcickiego, 60-781 Poznań, Poland

open access

Vol 89, No 6 (2018)
ORIGINAL PAPERS Gynecology
Published online: 2018-06-29

Abstract

Objectives: Genome-wide association studies in patients with endometriosis revealed ten significant single nucleo­tide 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.

Abstract

Objectives: Genome-wide association studies in patients with endometriosis revealed ten significant single nucleo­tide 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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Keywords

GWAS, endometriosis, infertility

About this article
Title

The assessment of GWAS — identified polymorphisms associated with infertility risk in Polish women with endometriosis

Journal

Ginekologia Polska

Issue

Vol 89, No 6 (2018)

Article type

Research paper

Pages

304-310

Published online

2018-06-29

Page views

2174

Article views/downloads

1595

DOI

10.5603/GP.a2018.0052

Pubmed

30010178

Bibliographic record

Ginekol Pol 2018;89(6):304-310.

Keywords

GWAS
endometriosis
infertility

Authors

Maciej Osiński
Adrianna Mostowska
Przemyslaw Wirstlein
Ewa Wender-Ożegowska
Paweł Piotr Jagodziński
Małgorzata Szczepańska

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