CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
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DOI：
10.1136/gutjnl-2011-300645
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发表时间：
2013-04-01
期刊：
影响因子：
24.5
通讯作者：
Witt, Heiko
中科院分区：
文献类型：
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作者：
Rosendahl, Jonas;Landt, Olfert;Witt, Heiko
目的在慢性胰腺炎(CP)中，一些基因的改变已被描述，但对于所有易感基因的研究还很少。设计纳入660例特发性或遗传性CP患者和1758名对照。用DNA测序法分析PRSS1、SPINK1和CTRC，用熔融曲线法分析囊性纤维化跨膜电导调节因子(CFTR)。我们确定了103个CFTR变异体，这意味着风险增加了2.7倍(p
Objective In chronic pancreatitis (CP), alterations in several genes have so far been described, but only small cohorts have been extensively investigated for all predisposing genes.Design 660 patients with idiopathic or hereditary CP and up to 1758 controls were enrolled. PRSS1, SPINK1 and CTRC were analysed by DNA sequencing, and cystic fibrosis transmembrane conductance regulator (CFTR) by melting curve analysis.Results Frequencies of CFTR variants p.R75Q, p.I148T, 5T-allele and p.E528E were comparable in patients and controls. We identified 103 CFTR variants, which represents a 2.7-fold risk increase (p