New candidate genes associated to endometriosis

Autor(es)

Christofolini, Denise Maria ^{[1, 2]} ; Mafra, Fernanda Abani ^[3] ; Catto, Michelle Cristina ^[2] ; Bianco, Bianca ^{[1, 2]} ; Barbosa, Caio Parente ^{[1, 2]}

Afiliação do(s) autor(es)

^[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

• Tipo de documento: Artigo Científico
• Fonte: Gynecological Endocrinology; v. 35, n. 1, p. 62-65, JAN 2 2019.
• Citações Web of Science: 2

Resumo

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)

• Processo FAPESP: 12/22394-8 - Variações genômicas como fatores de risco para o desenvolvimento e progressão da endometriose
• Beneficiário: Fernanda Abani Mafra
• Linha de fomento: Bolsas no Brasil - Doutorado
• Processo FAPESP: 14/07136-8 - Variações genômicas como fatores de risco para o desenvolvimento e progressão da endometriose
• Beneficiário: Fernanda Abani Mafra
• Linha de fomento: Bolsas no Exterior - Estágio de Pesquisa - Doutorado