𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens

✍ Scribed by Bernhard Steiner; Jonas Rosendahl; Heiko Witt; Niels Teich; Volker Keim; Hans-Ulrich Schulz; Roland Pfützer; Matthias Lühr; Thomas M. Gress; Renate Nickel; Olfert Landt; Monika Koudova; Milan Macek Jr; Antoni Farre; Teresa Casals; Marie-Claire Desax; Sabina Gallati; Macarena Gomez-Lira; Marie Pierre Audrezet; Claude Férec; Marie des Georges; Mireille Claustres; Kaspar Truninger

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
219 KB
Volume
32
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

CFTR mutations enhance susceptibility for idiopathic chronic pancreatitis (ICP) and congenital bilateral absence of the vas deferens (CBAVD); however, it is unknown why CFTR heterozygotes are at increased disease risk. We recently showed that common CFTR variants are associated with aberrantly spliced transcripts. Here, we genotyped for common CFTR variants and tested for associations in two ICP (ICP-A: 126 patients, 319 controls; ICP-B: 666 patients, 1,181 controls) and a CBAVD population (305 patients, 319 controls). Haplotype H10 (TG11-T7-470V) conferred protection (ICP-A: OR 0.19, Po0.0001; ICP-B: OR 0.78, P 5 0.06; CBAVD OR 0.08, Po0.001), whereas haplotype H3 (TG10-T7-470M) increased disease risk (ICP-A: OR 8.34, P 5 0.003; ICP-B: OR 1.88, P 5 0.007; CBAVD: OR 5.67, P 5 0.01). The risk of heterozygous CFTR mutations carriers for ICP (OR 2.44, Po0.001) and CBAVD (OR 14.73, Po0.001) was fully abrogated by the H10/H10 genotype. Similarly, ICP risk of heterozygous p.Asn34Ser SPINK1 mutation carriers (OR 10.34, Po0.001) was compensated by H10/H10. Thus, common CFTR haplotypes modulate ICP and CBAVD susceptibility alone and in heterozygous CFTR and p.Asn34-Ser mutation carriers. Determination of these haplotypes helps to stratify carriers into high-and low-risk subjects, providing helpful information for genetic counseling.

📜 SIMILAR VOLUMES

Common CFTR haplotypes and susceptibilit
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens
✍ Bernhard Steiner; Jonas Rosendahl; Heiko Witt; Niels Teich; Volker Keim; Hans-Ul 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB

Bernhard Steiner, \({ }^{1 \dagger}\) Jonas Rosendahl, \({ }^{2 \dagger}\) Heiko Witt, \({ }_{3}^{3}\) Niels Teich, \({ }^{4}\) Volker Keim, \({ }^{2}\) Hans-Ulrich Schulz, \({ }^{5}\) Roland Pfützer, \({ }^{6}\) Matthias Löhr, \({ }^{7}\) Thomas M. Gress, \({ }^{8}\) Renate Nickel, \({ }^{9}\) Olfe

Spectrum of CFTR mutations in cystic fib
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
✍ Mireille Claustres; Caroline Guittard; Dominique Bozon; Françoise Chevalier; Cla 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 532 KB

We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 19 laboratories in France. We have analyzed 7,420 CF alleles, demonstrating a total of 310 different mutations including 24 not reported previously, accounting for 93.56% of CF genes. The most common were F508del (67

A T3 allele in the CFTR gene exacerbates
A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD)
✍ Antoine Disset; Carine Michot; Ann Harris; Emanuele Buratti; Mireille Claustres; 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 425 KB

## Communicated by Garry Cutting The different alleles at the (TG)m(T)n polymorphic loci at the 3 0 end of the human CFTR intron 8 determine the efficiency by which exon 9 is spliced. We identified a novel TG12T3 allele in a congenital bilateral absence of vas deferens (CBAVD) patient who carries