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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

The Impact of FSHR Gene Polymorphisms Ala307Thr and Asn680Ser in the Endometriosis Development

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Andre, Gustavo Mendonca [1] ; Trevisan, Camila Martins [1] ; Pedruzzi, Isabela Nacione [1] ; Martins Fernandes, Ramon Felix [1] ; Oliveira, Renato [1] ; Christofolini, Denise Maria [1] ; Bianco, Bianca [1] ; Barbosa, Caio Parente [1]
Total Authors: 8
[1] Fac Med ABC, Human Reprod & Genet Ctr, Dept Collect Hlth, Ave Lauro Gomes 2-000, BR-09060870 Santo Andre - Brazil
Total Affiliations: 1
Document type: Journal article
Source: DNA AND CELL BIOLOGY; v. 37, n. 6 APR 2018.
Web of Science Citations: 7

Endometriosis is an estrogen-dependent inflammatory disease that affects a large number of women in reproductive age. Follicle-stimulating hormone (FSH) plays a role in steroidogenesis and acts through a transmembrane glycoprotein, FSH receptor (FSHR). Polymorphisms in FSHR gene were previously associated with variability in FSH serum level and reproductive outcomes, but its relation with endometriosis has not been clarified and demonstrated conflicting results, ranging from strong links to no association to endometriosis. Inspired by these findings, we aimed to investigate the influence of FSHR Ala307Thr and Asn680Ser polymorphisms in the risk of endometriosis development and/or progression and the status of fertility in 352 women with endometriosis and 510 fertile controls. Single-marker analysis revealed no significant difference for both Ala307Thr and Asn680Ser polymorphisms between overall endometriosis and control group. However, when the endometriosis group was subdivided according to fertility status and disease stage, a positive association was found between 680Ser/Ser or GG genotype of the Asn680Ser polymorphism and fertile women with endometriosis (p=0.004). Combined alleles of FSHR polymorphisms revealed that GG/307Ala680Ser was more frequently found in fertile women with endometriosis (haplotype frequency of 45.4% in fertile women with endometriosis and 38.3% in controls, p=0.041). The combined alleles of FSHR polymorphisms disclosed that GG/307Ala680Ser was more frequently found in fertile women with endometriosis (haplotype frequency of 45.4% in fertile women with endometriosis and 38.3% in controls, p=0.049), while GA/307Ala680Asn haplotype was less frequently found in endometriosis group (haplotype frequency of 6.5% in cases and 11.9% in controls, p=< 0.001), regardless of fertility status and stage of the disease. The findings suggest that 680Ser-Ser/GG genotype and GG/307Ala680Ser haplotype increase the risk of endometriosis in fertile women, while GA/307Ala680Asn haplotype decreases the risk of endometriosis development and progression. (AU)

FAPESP's process: 17/01202-7 - Search for new mutations in candidate genes to development and progression of endometriosis through new generation sequencing
Grantee:Caio Parente Barbosa
Support type: Regular Research Grants
FAPESP's process: 16/25953-9 - Evaluation of mutations and/or polymorphisms in candidate genes by next generation sequence in infertile women with and without endometriosis and its correlation with results of controlled ovarian hyperstimulation in assisted human reproduction treatments
Grantee:Bianca Alves Vieira Bianco
Support type: Regular Research Grants