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

Osiński, Maciej; Mostowska, Adrianna; Wirstlein, Przemysław; Wender-Ożegowska, Ewa; Jagodzińśki, Paweł P.; Szczepańska, Magdalena

doi:10.5603/gp.a2018.0052

Cited by 18 publications

(12 citation statements)

References 33 publications

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“…8,13 However, other replication studies found correlation between the referred polymorphism and endometriosis in Chinese and Polish populations, as well as the meta-analysis that included GWAS in a Belgian population. 12,14,15 Thus, our results corroborate the majority of previous studies, suggesting that the rs12700667 is relevant to the development of endometriosis not only in European and Asian populations, but also in a highly admixed population such as the Brazilian.…”

Section: Discussionsupporting

confidence: 90%

“…Similarly, a recent study with a Polish sample of 315 infertile women with endometriosis and 406 healthy fertile women did not find any differences in the distribution frequencies of this polymorphism between the groups. 14 In 2010, the GWA study by Adachi et al validated an important association between endometriosis and A > G (rs13394619) polymorphism in the GREB1 gene of the 2p25.1 chromosome (OR ¼ 1.35; 95%CI¼ 1.06-1.18; p ¼ 3.8 Â 10 À5 ). 16 In 2012, this association was also found (OR ¼ 1.12; 95%CI ¼1.06-1.18; p ¼ 2.1 Â 10 À5 ) in the meta-analysis that comprehended Japanese and European populations.…”

Section: Discussionmentioning

confidence: 99%

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Association between Single Nucleotide Polymorphisms and Endometriosis in a Brazilian Population

Viana

Mendes

Delgado

et al. 2020

Rev Bras Ginecol Obstet

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Objective To investigate the association between genetic polymorphisms in candidate genes or candidate regions and the development of endometriosis in Brazilian women. Methods A total of 30 women between 25 and 64 years old with a diagnosis of endometriosis participated in the present study, as well as 30 matched control women from the same age group, asymptomatic and without family history of the disease. The patients genotypic and allelic frequencies of polymorphisms in the GREB1 gene (rs13394619) and in the intergenic region at position 7p15.2 (rs12700667) were analyzed and compared. Results There was no significant difference in the frequency of genotypes for the A > G polymorphism (rs13394619) in the GREB1 gene between the two groups. However, the distribution frequencies of the genotypes for the A > G polymorphism (rs12700667) in an intergenic region on chromosome 7 were different for control patients and for patients with endometriosis, with higher frequency of the AG genotype compared to the GG between patients with the disease (odds ratio [OR] = 3.49; confidence interval [CI] = 1.47–8.26). Conclusion The present study suggests that the polymorphism in the intergenic region of chromosome 7 is associated with the risk of developing endometriosis in a population of Brazilian women from Juiz de Fora.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Association between Single Nucleotide Polymorphisms and Endometriosis in a Brazilian Population

Viana

Mendes

Delgado

et al. 2020

Rev Bras Ginecol Obstet

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“…Genome-wide association studies on endometriosis have demonstrated an association between susceptibility to the disease and markers located in or near the WNT ligand WNT4 gene encoding for a noncanonical key player in the development of the female reproductive tract [57]. Mafra et al studied the relationship between endometriosis and four WNT4 SNPs, suggesting that two SNPs (rs16826658 and rs3820282) of the WNT4 gene might be involved in the pathogenesis of endometriosis in infertile women (Table 1) [58].…”

Section: The Wnt Pathway Between Genetics and Inflammationmentioning

confidence: 99%

Genetics and Inflammation in Endometriosis: Improving Knowledge for Development of New Pharmacological Strategies

Giacomini

Minetto

Piani

et al. 2021

IJMS

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According to a rich body of literature, immune cell dysfunctions, both locally and systemically, and an inflammatory environment characterize all forms of endometriosis. Alterations in transcripts and proteins involved in the recruitment of immune cells, in the interaction between cytokines and their receptors, cellular adhesion and apoptosis have been demonstrated in endometriotic lesions. The objective of this narrative review is to provide an overview of the components and mechanisms at the intersection between inflammation and genetics that may constitute vanguard therapeutic approaches in endometriosis. The GWAS technology and pathway-based analysis highlighted the role of the MAPK and the WNT/β-catenin cascades in the pathogenesis of endometriosis. These signaling pathways have been suggested to interfere with the disease establishment via several mechanisms, including apoptosis, migration and angiogenesis. Extracellular vesicle-associated molecules may be not only interesting to explain some aspects of endometriosis progression, but they may also serve as therapeutic regimens per se. Immune/inflammatory dysfunctions have always represented attractive therapeutic targets in endometriosis. These would be even more interesting if genetic evidence supported the involvement of functional pathways at the basis of these alterations. Targeting these dysfunctions through next-generation inhibitors can constitute a therapeutic alternative for endometriosis.

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“…Osinski et al attempted to validate the GWAS results for 10 significant SNPs from the seminal analyses on a cohort smaller than the ones initially used (315 endometriosis and 406 healthy fertile women as controls) and could overall confirm rs12700667 near NFE2L3, and rs4141819 near ETAA1, for the infertile women with stages III/IV [ 47 ]. In the initial study [ 55 ], the OR associated with rs4141819 was estimated at 1.22 for the risk allele, and at 1.20 for rs12700667.…”

Section: Replication Studiesmentioning

confidence: 99%

Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing

Lalami

Abo

Borghese

et al. 2021

IJMS

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This review aims at better understanding the genetics of endometriosis. Endometriosis is a frequent feminine disease, affecting up to 10% of women, and characterized by pain and infertility. In the most accepted hypothesis, endometriosis is caused by the implantation of uterine tissue at ectopic abdominal places, originating from retrograde menses. Despite the obvious genetic complexity of the disease, analysis of sibs has allowed heritability estimation of endometriosis at ~50%. From 2010, large Genome Wide Association Studies (GWAS), aimed at identifying the genes and loci underlying this genetic determinism. Some of these loci were confirmed in other populations and replication studies, some new loci were also found through meta-analyses using pooled samples. For two loci on chromosomes 1 (near CCD42) and chromosome 9 (near CDKN2A), functional explanations of the SNP (Single Nucleotide Polymorphism) effects have been more thoroughly studied. While a handful of chromosome regions and genes have clearly been identified and statistically demonstrated as at-risk for the disease, only a small part of the heritability is explained (missing heritability). Some attempts of exome sequencing started to identify additional genes from families or populations, but are still scarce. The solution may reside inside a combined effort: increasing the size of the GWAS designs, better categorize the clinical forms of the disease before analyzing genome-wide polymorphisms, and generalizing exome sequencing ventures. We try here to provide a vision of what we have and what we should obtain to completely elucidate the genetics of this complex disease.

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

Abstract: Our results demonstrate association of RAF of rs12700667 and rs4141819 SNPs with infertility in Polish women with advanced endometriosis.

Cited by 18 publications

References 33 publications

Association between Single Nucleotide Polymorphisms and Endometriosis in a Brazilian Population

Association between Single Nucleotide Polymorphisms and Endometriosis in a Brazilian Population

Genetics and Inflammation in Endometriosis: Improving Knowledge for Development of New Pharmacological Strategies

Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing

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