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Biomarkers for the Noninvasive Diagnosis of Endometriosis: State of the Art and Future Perspectives
Open AccessArticle

Genetic Characterization of Endometriosis Patients: Review of the Literature and a Prospective Cohort Study on a Mediterranean Population

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Department of Surgical Science, University of Cagliari, Cittadella Universitaria Blocco I, Asse Didattico Medicna P2, Monserrato, 09042 Cagliari, Italy
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Department of Medical Science and Public Health, University of Cagliari, Laboratory of Genetics and Genomics, Pediatric Hospital Microcitemico “A. Cao”, Via Edward Jenner, 09121 Cagliari, Italy
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Department of Medical Science and Public Health, University of Cagliari, Cittadella Universitaria di Monserrato, Asse Didattico E, Monserrato, 09042 Cagliari, Italy
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Laboratory of Molecular Genetics, Service of Forensic Medicine, AOU Cagliari, Via Ospedale 54, 09124 Cagliari, Italy
*
Authors to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(5), 1765; https://doi.org/10.3390/ijms21051765
Received: 31 January 2020 / Revised: 20 February 2020 / Accepted: 2 March 2020 / Published: 4 March 2020
(This article belongs to the Special Issue Endometriosis Research: From Bench to Bedside)
The pathogenesis of endometriosis is unknown, but some evidence supports a genetic predisposition. The purpose of this study was to evaluate the recent literature on the genetic characterization of women affected by endometriosis and to evaluate the influence of polymorphisms of the wingless-type mammalian mouse tumour virus integration site family member 4 (WNT4), vezatin (VEZT), and follicle stimulating hormone beta polypeptide (FSHB) genes, already known to be involved in molecular mechanisms associated with the proliferation and development of endometriotic lesions in the Sardinian population. Materials and Methods: In order to provide a comprehensive and systematic tool for those approaching the genetics of endometriosis, the most cited review, observational, cohort and case-control studies that have evaluated the genetics of endometriosis in the last 20 years were collected. Moreover, 72 women were recruited for a molecular biology analysis of whole-blood samples—41 patients affected by symptomatic endometriosis and 31 controls. The molecular typing of three single nucleotide polymorphisms (SNPs) was evaluated in patients and controls: rs7521902, rs10859871 and rs11031006, mapped respectively in the WNT4, VEZT and FSHB genes. In this work, the frequency of alleles, genotypes and haplotypes of these SNPs in Sardinian women is described. Results: From the initial search, a total of 73 articles were chosen. An analysis of the literature showed that in endometriosis pathogenesis, the contribution of genetics has been well supported by many studies. The frequency of genotypes observed in the groups of the study population of 72 women was globally coherent with the law of the Hardy–Weinberg equilibrium. For the SNP rs11031006 (FSHB), the endometriosis group did not show an increase in genotypic or allelic frequency due to this polymorphism compared to the control group (p = 0.9999, odds ratio (OR) = 0.000, 95% confidence interval (CI), 0.000–15.000 and p = 0.731, OR = 1639, 95% CI, 0.39–683, respectively, for the heterozygous genotype and the polymorphic minor allele). For the SNP rs10859871 (VEZT), we found a significant difference in the frequency of the homozygous genotype in the control group compared to the affected women (p = 0.0111, OR = 0.0602, 95% CI, 0.005–0.501). For the SNP rs7521902 (WNT4), no increase in genotypic or allelic frequency between the two groups was shown (p = 0.3088, OR = 0.4133, 95% CI, 0.10–1.8 and p = 0.3297, OR = 2257, 95% CI, 0.55–914, respectively, for the heterozygous genotype and the polymorphic minor allele). Conclusion: An analysis of recent publications on the genetics of endometriosis showed a discrepancy in the results obtained in different populations. In the Sardinian population, the results obtained do not show a significant association between the investigated variants of the genes and a greater risk of developing endometriosis, although several other studies in the literature have shown the opposite. Anyway, the data underline the importance of evaluating genetic variants in different populations. In fact, in different ethnic groups, it is possible that specific risk alleles could act differently in the pathogenesis of the disease. View Full-Text
Keywords: endometriosis; genetic polymorphisms; SNPs; pathogenesis; aetiology; Mediterranean population; Sardinian population endometriosis; genetic polymorphisms; SNPs; pathogenesis; aetiology; Mediterranean population; Sardinian population
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MDPI and ACS Style

Angioni, S.; D’Alterio, M.N.; Coiana, A.; Anni, F.; Gessa, S.; Deiana, D. Genetic Characterization of Endometriosis Patients: Review of the Literature and a Prospective Cohort Study on a Mediterranean Population. Int. J. Mol. Sci. 2020, 21, 1765.

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