Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens

Havasi, Viktoria; Rowe, Steven; Kolettis, Peter; DAYANGAÇ ERDEN, DİDEM; Sahin, AHMET; Grangeia, Ana; Carvalho, Filipa; Barros, Alberto; Sousa, Mario; Bassas, Lluis; Casals, Teresa; Sorscher, Eric

doi:10.1016/j.fertnstert.2009.11.044

Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens

Atıf İçin Kopyala

Havasi V., Rowe S. M., Kolettis P. N., DAYANGAÇ ERDEN D., Sahin A., Grangeia A., ...Daha Fazla

FERTILITY AND STERILITY, cilt.94, sa.6, ss.2122-2127, 2010 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 94 Sayı: 6
Basım Tarihi: 2010
Doi Numarası: 10.1016/j.fertnstert.2009.11.044
Dergi Adı: FERTILITY AND STERILITY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.2122-2127
Anahtar Kelimeler: Congenital bilateral absence of the vas deferens, CBAVD, CFTR, cystic fibrosis, CF, modifier gene, TGF-beta, EDNRA, GROWTH-FACTOR-BETA, TRANSFORMING GROWTH-FACTOR-BETA-1 GENE, CFTR GENE, MALE-INFERTILITY, LUNG-DISEASE, IDENTIFICATION, MUTATIONS, FACTOR-BETA(1), REARRANGEMENTS, ENDOTHELIN-1
Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

Özet

Objective: To investigate whether genetic modifiers of cystic fibrosis (CF) lung disease also predispose to congenital bilateral absence of the vas deferens (CBAVD) in association with cystic fibrosis transmembrane conductance regulator (CFTR) mutations. We tested the hypothesis that polymorphisms of transforming growth factor (TGF)-beta 1 (rs 1982073, rs 1800471) and endothelin receptor type A (EDNRA) (rs 5335, rs 1801708) are associated with the CBAVD phenotype.