Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens
Por:
Havasi, V, Rowe, SM, Kolettis, PN, Dayangac, D, Sahin, A, Grangeia, A, Carvalho, F, Barros, A, Sousa, M, Bassas, L, Casals, T, Sorscher, EJ
Publicada:
1 nov 2010
Resumen:
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.
Design: Genotyping of subjects with clinical CBAVD.
Setting: Outpatient and hospital-based clinical evaluation.
Patient(s): DNA samples from 80 subjects with CBAVD and 51 healthy male controls from various regions of Europe. This is one of the largest genetic studies of this disease to date.
Intervention(s): None.
Main Outcome Measure(s): Genotype analysis.
Result(s): For single nucleotide polymorphism (SNP) rs 5335, we found increased frequency of the CC genotype among subjects with CBAVD. The difference was significant among Turkish patients versus controls (45.2% vs. 19.4%), and between all cases versus controls (36% vs. 15.7%). No associations between CBAVD penetrance and polymorphisms rs 1982073, rs 1800471, or rs 1801708 were observed.
Conclusion(s): Our findings indicate that endothelin receptor type A polymorphism rs 5335 may be associated with CBAVD penetrance. To our knowledge, this is the first study to investigate genetic modifiers relevant to CBAVD. (Fertil Steril (R) 2010; 94: 2122-7. (C) 2010 by American Society for Reproductive Medicine.)
Filiaciones:
Havasi, V:
Univ Alabama Birmingham, Gregory Fleming James Cyst Fibrosis Res Ctr, Birmingham, AL 35294 USA
Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USA
Rowe, SM:
Univ Alabama Birmingham, Gregory Fleming James Cyst Fibrosis Res Ctr, Birmingham, AL 35294 USA
Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USA
Kolettis, PN:
Univ Alabama Birmingham, Dept Surg, Birmingham, AL 35294 USA
Dayangac, D:
Hacettepe Univ, Dept Med Biol, Ankara, Turkey
Sahin, A:
Acibadem Univ, Dept Urol, Istanbul, Turkey
Grangeia, A:
Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, Portugal
Carvalho, F:
Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, Portugal
Barros, A:
Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, Portugal
Univ Porto, Ctr Reprod Genet A Barros, P-4100 Oporto, Portugal
Sousa, M:
Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, Portugal
Univ Porto, Ctr Reprod Genet A Barros, P-4100 Oporto, Portugal
Univ Porto, Cell Biol Lab, Inst Biomed Sci Abel Salazar, P-4100 Oporto, Portugal
Bassas, L:
Inst Biomed Bellvitge IDIBELL, Serv Androl, Fundacio Puigvert, Barcelona, Spain
Casals, T:
Inst Biomed Bellvitge IDIBELL, Med & Mol Genet Center, Barcelona, Spain
Sorscher, EJ:
Univ Alabama Birmingham, Gregory Fleming James Cyst Fibrosis Res Ctr, Birmingham, AL 35294 USA
Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USA
Green Accepted, Green Published
|