Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis
Journal
Clinical Genetics
Journal Volume
71
Journal Issue
6
Pages
530-539
Date Issued
2007
Author(s)
Abstract
Mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene have been reported in patients with chronic pancreatitis. The authors examine whether the mutations and haplotypes of CFTR will increase the risk of developing idiopathic chronic pancreatitis (ICP) in Chinese and their genotype and phenotype correlations. Seventy-eight patients with ICP and 200 geographically and ethnically matched controls in Taiwan were analyzed. The entire 27 coding and intronic regions of the CFTR gene were identified using heteroduplex analytical techniques and confirmed by sequencing analysis. The presence of 125G/C, 1001+ 10C>T, IVSTn(TG)m, 1540A>G, c2694T>G, and c4521G>A were determined by directing sequencing. Abnormal CFTR allele was found to be thrice as frequent in ICP patients as in controls (22/156 vs 19/400, p < 0.0001). T5 allele was associated with early onset of ICP. In six-loci haplotype analysis, 13 common haplotypes were assembled in the 278 individuals tested. The 125G/1001+ 11C/TG12/470M/2694T/4521G haplotype was associated with risk of ICP (odds ratio 11.3; 95% confidence interval 2.3-54.6, p =0.008) in Chinese. The mutation spectrum is different from other ethnic groups. A population-specific panel of CFTR changes should be recommended for targeted populations including ICP in Chinese. It is important to design suitable screening programs for different populations. ? 2007 The Authors Journal compilation ? 2007 Blackwell Munksgaard.
SDGs
Other Subjects
transmembrane conductance regulator; adult; allele; article; Chinese; chronic pancreatitis; confidence interval; controlled study; ethnic difference; female; gene locus; gene mutation; gene sequence; genetic analysis; genetic association; genetic code; genetic variability; genotype phenotype correlation; haplotype; heteroduplex analysis; human; idiopathic disease; intron; major clinical study; male; nucleic acid base substitution; priority journal; Adult; Asian Continental Ancestry Group; Cystic Fibrosis Transmembrane Conductance Regulator; DNA Mutational Analysis; Gene Frequency; Genetic Screening; Genotype; Haplotypes; Humans; Middle Aged; Mutation; Pancreatitis, Chronic; Phenotype; Polymorphism, Genetic; Repetitive Sequences, Nucleic Acid; Taiwan
Type
journal article