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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.)

New candidate genes associated to endometriosis

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Christofolini, Denise Maria [1, 2] ; Mafra, Fernanda Abani [3] ; Catto, Michelle Cristina [2] ; Bianco, Bianca [1, 2] ; Barbosa, Caio Parente [1, 2]
Total Authors: 5
[1] Inst Ideia Fertil Saude Reprod, Santo Andre - Brazil
[2] Fac Med ABC, Discipline Sexual & Reprod Hlth & Populat Genet, Dept Collect Hlth, Santo Andre - Brazil
[3] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 - USA
Total Affiliations: 3
Document type: Journal article
Source: Gynecological Endocrinology; v. 35, n. 1, p. 62-65, JAN 2 2019.
Web of Science Citations: 2

A previous GWAS study performed on Brazilian pooled samples indicated some SNPs (single nucleotide polymorphisms) differentially frequent in infertile patients with endometriosis and controls. Some of them were located in the genes whose biological function suggests that they could be associated with endometriosis pathogenesis; thus, the purpose here was to confirm GWAS findings in a larger group of cases and controls in order to associate the results with the pathogenesis of endometriosis. Then, a genetic association study comprising 394 infertile women with endometriosis and 650 fertile control women was conducted. TaqMan allelic discrimination assays were used to investigate the frequency of three SNPs in the genes KAZN (rs10928050), LAMA5 (rs2427284), and TAC3 (rs733629). The analysis revealed a significant association of KAZN rs10928050 (p = .015) and LAMA5 rs2427284 (p = .0059) SNPs with endometriosis-related infertility, while TAC3 rs733629 showed no difference between cases and controls. As a conclusion, it was possible to observe that individual genotyping of a larger sample of patients and controls confirmed the association among KAZN and LAMA5 with endometriosis-related infertility and revealed new candidate genes contributing to the condition. (AU)

FAPESP's process: 12/22394-8 - Genomic Variation as risk factor for the development and progression of endometriosis
Grantee:Fernanda Abani Mafra
Support type: Scholarships in Brazil - Doctorate
FAPESP's process: 14/07136-8 - Genomic variations as risk factors for the development and progression of endometriosis
Grantee:Fernanda Abani Mafra
Support type: Scholarships abroad - Research Internship - Doctorate