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

dc.contributor.authorHavasi, Viktoria
dc.contributor.authorRowe, Steven M.
dc.contributor.authorKolettis, Peter N.
dc.contributor.authorDayangac, Didem
dc.contributor.authorSahin, Ahmet
dc.contributor.authorGrangeia, Ana
dc.contributor.authorCarvalho, Filipa
dc.contributor.authorBarros, Alberto
dc.contributor.authorSousa, Mario
dc.contributor.authorBassas, Lluis
dc.contributor.authorCasals, Teresa
dc.contributor.authorSorscher, Eric J.
dc.date.accessioned2023-02-21T12:39:16Z
dc.date.available2023-02-21T12:39:16Z
dc.date.issued2010-01-01
dc.description.abstractObjective: 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
dc.description.abstract94: 2122-7. (C) 2010 by American Society for Reproductive Medicine.)
dc.description.issue6
dc.description.issueNOV
dc.description.pages2122-2127
dc.description.volume94
dc.identifier.doi10.1016/j.fertnstert.2009.11.044
dc.identifier.urihttps://hdl.handle.net/11443/2488
dc.identifier.urihttp://dx.doi.org/10.1016/j.fertnstert.2009.11.044
dc.identifier.wosWOS:000283441400035
dc.publisherELSEVIER SCIENCE INC
dc.relation.ispartofFERTILITY AND STERILITY
dc.subjectCongenital bilateral absence of the vas deferens
dc.subjectCBAVD
dc.subjectCFTR
dc.subjectcystic fibrosis
dc.subjectCF
dc.subjectmodifier gene
dc.subjectTGF-beta
dc.subjectEDNRA
dc.titleAssociation of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens
dc.typeArticle

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