Independent contribution of common CFTR variants to chronic pancreatitis

Pancreas

Volumn 39, Issue 2, 2010, Pages 209-215

  De Cid, Rafael ^a,b   Ramos, Maria D ^c   Aparisi, Luís ^d   García, Cecilia ^a,b   Mora, Josefina ^e   Estivill, Xavier ^a,b   Farré, Antoni ^e   Casals, Teresa ^c  

^a CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^b BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^c HOSPITAL DURAN I REYNALS   (Spain)

^d University Hospital Clinic   (Spain)

^e HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

CFTR mutations; CFTR related disorders; Chronic pancreatitis; Common CFTR variants; Cystic fibrosis; Susceptibility

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; AGED; ALCOHOLIC PANCREATITIS; ARTICLE; CHILD; CHRONIC PANCREATITIS; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENOTYPE; HAPLOTYPE; HUMAN; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROTEIN VARIANT; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; CASE-CONTROL STUDIES; CHILD; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; LOGISTIC MODELS; MALE; MIDDLE AGED; MUTATION; ODDS RATIO; PANCREATITIS, CHRONIC; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK ASSESSMENT; RISK FACTORS; SPAIN; YOUNG ADULT;

EID: 77649251221     PISSN: 08853177     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPA.0b013e3181bab679     Document Type: Article

References (31)

1. Witt H, Apte MV, Keim V, et al. Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy. Gastroenterology. 2007;132:1556-1573.
2. Audrézet MP, Chen JM, Le Maréchal C, et al. Determination of the relative contribution of three genesVthe cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis. Eur J Hum Genet. 2002;10:100-106.
3. Cohn JA, Mitchell RM, Jowell PS. The impact of cystic fibrosis and PSTI/SPINK1 gene mutations on susceptibility to chronic pancreatitis. Clin Lab Med. 2005;25:79-100.
4. Keiles S, Kammesheidt A. Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas. 2006;33: 221-227.
5. Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245:1073-1080. (Pubitemid 19231815)
6. Welsh MJ, Ramsey BW, Accurso F, et al. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. vol III. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: 2001: 5121-5188.
7. Durno C, Corey M, Zielenski J, et al. Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis. Gastroenterology. 2002;123:1856-1864.
8. Kopelman H, Corey M, Gaskin K, et al. Impaired chloride secretion, as well as bicarbonate secretion, underlies the fluid secretory defect in the cystic fibrosis pancreas. Gastroenterology. 1988;95:349-355.
9. Cohn JA, Friedman KJ, Noone PG, et al. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med. 1998;339:653-658.
10. Sharer N, Schwarz M, Malone G, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med. 1998;339: 645-652.
11. Truninger K, Malik N, Ammann RW, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. Am J Gastroenterol. 2001;96:2656-2661.
12. Casals T, Aparisi L, Martinez-Costa C, et al. Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis. Pancreas. 2004;28:374-379.
13. Castellani C, Cuppens H, Macek M Jr, et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros. 2008;7:179-196.
14. Aznarez I, Chan EM, Zielenski J, et al. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet. 2003;12:2031-2040.
15. Pagani F, Stuani C, Tzetis M, et al. New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. Hum Mol Genet. 2003;12:1111-1120.
16. Pagani F, Raponi M, Baralle FE. Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc Natl Acad Sci USA. 2005;102:6368-6372.
17. Steiner B, Truninger K, Sanz J, et al. The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles. Hum Mutat. 2004;24:120-129.
18. Etemad B, Whitcomb DC. Chronic pancreatitis: diagnosis, classification, and new genetic developments. Gastroenterology. 2001;120:682-707.
19. Bombieri C, Giorgi S, Carles S, et al. New approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals. Hum Genet. 2000;106:172-178.
20. Costes B, Fanen P, Goossens M, et al. A rapid, efficient and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum Mutat. 1993;2:185-191.
21. Alonso MJ, Heine-Suñer D, Calvo M, et al. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Ann Hum Genet. 2007;71:194-201.
22. Purcell S, Cherny SS, Sham PC. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics. 2003;19:149-150.
23. Barrett JC, Fry B, Maller J, et al. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263-265.
24. Lake SL, Lyon H, Tantisira K, et al. Estimation and tests of haplotype-environment interaction when linkage phase is ambiguous. Hum Hered. 2003;55:56-65.
25. González JR, Armengol L, Solé X, et al. SN Passoc: an R package to perform whole genome association studies. Bioinformatics. 2007;23: 644-645.
26. Le Maréchal C, Audrézet MP, Quéré I, et al. Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling. Hum Genet. 2001;108:290-298.
27. Cohn JA, Neoptolemos JP, Feng J, et al. Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers. Hum Mutat. 2005;26:303-307.
28. Löhr M. What are the useful biological and functional markers of early-stage chronic pancreatitis?. J Gastroenterol. 2007;42(suppl 17): 66-71.
29. Rahim NG, Harismendy O, Topol EJ, et al. Genetic determinants of phenotypic diversity in humans. Genome Biol. 2008;9:215-223.
30. Aznarez I, Zielenski J, Rommens JM, et al. Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X. J Med Genet. 2007;44:341-346.
31. Boichard A, Venet L, Naas T, et al. Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer. Mol Genet Metab. 2008;93:323-330.