کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3318159 1590359 2010 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Complete Analysis of the Human Mesotrypsinogen Gene (PRSS3) in Patients with Chronic Pancreatitis
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی بیماری‌های گوارشی
پیش نمایش صفحه اول مقاله
Complete Analysis of the Human Mesotrypsinogen Gene (PRSS3) in Patients with Chronic Pancreatitis
چکیده انگلیسی
Background/Aims: A sustained imbalance of pancreatic proteases and their inhibitors seems to be important for the development of chronic pancreatitis (CP). Mesotrypsin (PRSS3) can degrade intrapancreatic trypsin inhibitors that protect against CP. Genetic variants that cause higher mesotrypsin activity might increase the risk for CP. Methods: We analyzed all 5 exons and the adjacent non-coding sequences of PRSS3 by direct sequencing of 313 CP patients and 327 controls. Additionally, exon 4 was investigated in 855 patients and 1,294 controls and a c.454+191G>A variant in 855 patients and 1,467 controls. The c.499A>G (p.T167A) variant was analyzed functionally using transiently transfected HEK293T cells. Results: In the exonic regions, the previously described common c.94_96delGAG (p.E32del) variant and a novel p.T167A non-synonymous alteration were identified. Extended analysis of the p.T167A variant revealed no association toCP and in functional assays p.T167A showed normal secretion and activity. Variants of the intronic regions, including the extensively analyzed c.454+191G>A alteration, were not associated with the disease. Haplotype reconstruction using variants with a minor allele frequency of >1% revealed no CP-associated haplotype. Conclusions:
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pancreatology - Volume 10, Issues 2–3, June 2010, Pages 243-249
نویسندگان
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