Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis.
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.
Chang
Ming-Chu
MC
Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
Chang
Yu-Ting
YT
Wei
Shu-Chen
SC
Tien
Yu-Wen
YW
Liang
Po-Chin
PC
Jan
I-Shiow
IS
Su
Yi-Ning
YN
Wong
Jau-Min
JM
D000328:Adult; D044466:Asian People / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D050500:Pancreatitis, Chronic / Q000208:ethnology / Q000235:genetics* / Q000517:prevention & control; D010641:Phenotype; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D013624:Taiwan
D019005:Cystic Fibrosis Transmembrane Conductance Regulator