کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3318631 | 1590364 | 2006 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Keratin 8 Mutations Are Not Associated with Familial, Sporadic and Alcoholic Pancreatitis in a Population from the United States
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
بیماریهای گوارشی
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![عکس صفحه اول مقاله: Keratin 8 Mutations Are Not Associated with Familial, Sporadic and Alcoholic Pancreatitis in a Population from the United States Keratin 8 Mutations Are Not Associated with Familial, Sporadic and Alcoholic Pancreatitis in a Population from the United States](/preview/png/3318631.png)
چکیده انگلیسی
Background and Aims: Genetic predispositions play a major role in the development of chronic pancreatitis. Recently, a mutation in the keratin 8 gene (G62C) was reported to be associated with chronic pancreatitis in Italy. We determined whether mutations in the keratin 8 gene are associated with familial, sporadic and alcoholic recurrent acute or chronic pancreatitis in a population from the United States. Methods: We investigated the relevant genomic region of the keratin 8 gene in 80 patients with familial pancreatitis without a cationic tryp- sinogen (PRSS1) gene mutation from 52 different families, 21 patients with familial hereditary pancreatitis and a PRSS1 mutation from 20 different families, 126 patients with sporadic pancreatitis without a PRSS1 mutation, 61 patients with alcoholic pancreatitis and 271 controls by direct DNA sequencing.Results: We found the heterozygous G62C mutation in n = 3/80 patients (n = 2/52 patients from different families, 3.8%) with familial pancreatitis without PRSS1 mutation and in n = 3/126 patients (2.4%) with sporadic pancreatitis. We detected an adjacent heterozygous I63V mutation in n = 2/80 patients (n = 2/52 patients from different families, 3.8%) with familial pancreatitis without PRSS1 mutation and in n = 1/61 patients (1.6%) with alcoholic pancreatitis. We found the G62C mutation in n = 2/271 controls (0.7%) and the I63V mutation in n = 2/271 controls (0.7%). There were no statistically significant differences in the genotype frequencies between patients and controls (p > 0.05). Screening of additional available family members revealed that these variants did not segregate with the disease phenotype. There was no statistically significant difference in the frequency of these keratin 8 variants between patients with chronic pancreatitis and controls (p > 0.05).Conclusion: These keratin 8 variants are not associated with familial, sporadic or alcoholic pancreatitis.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pancreatology - Volume 6, Issues 1â2, April 2006, Pages 103-108
Journal: Pancreatology - Volume 6, Issues 1â2, April 2006, Pages 103-108
نویسندگان
Alexander Schneider, Janette Lamb, M. Michael Barmada, Anthony Cuneo, Mary E. Money, David C. Whitcomb,