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

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)-β1 (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.
AuthorsViktoria Havasi, Steven M Rowe, Peter N Kolettis, Didem Dayangac, Ahmet Sahin, Ana Grangeia, Filipa Carvalho, Alberto Barros, Mario Sousa, Lluis Bassas, Teresa Casals, Eric J Sorscher
JournalFertility and sterility (Fertil Steril) Vol. 94 Issue 6 Pg. 2122-7 (Nov 2010) ISSN: 1556-5653 [Electronic] United States
PMID20100616 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
Chemical References
  • CFTR protein, human
  • Receptor, Endothelin A
  • Transforming Growth Factor beta1
  • Cystic Fibrosis Transmembrane Conductance Regulator
Topics
  • Case-Control Studies
  • Cystic Fibrosis (complications, epidemiology, genetics)
  • Cystic Fibrosis Transmembrane Conductance Regulator (genetics)
  • DNA Mutational Analysis
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Penetrance
  • Polymorphism, Single Nucleotide
  • Receptor, Endothelin A (genetics)
  • Risk Factors
  • Spain (epidemiology)
  • Transforming Growth Factor beta1 (genetics)
  • Turkey (epidemiology)
  • Urogenital Abnormalities (epidemiology, etiology, genetics)
  • Vas Deferens (abnormalities)

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