کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6096155 | 1209839 | 2013 | 18 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
The Genetics of Complex Cholestatic Disorders
ترجمه فارسی عنوان
ژنتیک اختلالات کولاستاتیک مجتمع
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کلمات کلیدی
GGTPDC-E2TNFLPACPFICPBCT-helperIBDPSCancestral haplotype - haplotype اجدادیγ-glutamyltransferase - γ-گلوتامیل ترانسفرازantimitochondrial antibodies - آنتی بادی ضد میکروبیAMA - اماinterleukin - اینترلوکینInflammatory bowel disease - بیماریهای التهابی رودهPrimary biliary cirrhosis - سیروز صفراوی اولیهtumor necrosis factor - فاکتور نکروز تومورmajor histocompatibility complex - مجموعه سازگاری بافتی اصلیMHC - مجموعه سازگاری بافتی اصلیGenome-wide association studies - مطالعات مرتبط با ژنومGWAS - مطالعهٔ همخوانی سراسر ژنومPrimary sclerosing cholangitis - کلانژیت اسکلروئیدی اولیهProgressive familial intrahepatic cholestasis - کلستاز داخل صفاقی خانوادگی پیشرفته
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
بیماریهای گوارشی
چکیده انگلیسی
Cholestatic liver diseases are caused by a range of hepatobiliary insults and involve complex interactions among environmental and genetic factors. Little is known about the pathogenic mechanisms of specific cholestatic diseases, which has limited our ability to manage patients with these disorders. However, recent genome-wide studies have provided insight into the pathogenesis of gallstones, primary biliary cirrhosis, and primary sclerosing cholangitis. A lithogenic variant in the gene that encodes the hepatobiliary transporter ABCG8 has been identified as a risk factor for gallstone disease; this variant has been associated with altered cholesterol excretion and metabolism. Other variants of genes encoding transporters that affect the composition of bile have been associated with cholestasis, namely ABCB11, which encodes the bile salt export pump, and ABCB4, which encodes hepatocanalicular phosphatidylcholine floppase. In contrast, studies have associated primary biliary cirrhosis and primary sclerosing cholangitis with genes encoding major histocompatibility complex proteins and identified loci associated with microbial sensing and immune regulatory pathways outside this region, such as genes encoding IL12, STAT4, IRF5, IL2 and its receptor (IL2R), CD28, and CD80. These discoveries have raised interest in the development of reagents that target these gene products. We review recent findings from genetic studies of patients with cholestatic liver disease. Future characterization of genetic variants in animal models, stratification of risk alleles by clinical course, and identification of interacting environmental factors will increase our understanding of these complex cholestatic diseases.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gastroenterology - Volume 144, Issue 7, June 2013, Pages 1357-1374
Journal: Gastroenterology - Volume 144, Issue 7, June 2013, Pages 1357-1374
نویسندگان
Gideon M. Hirschfield, Roger W. Chapman, Tom H. Karlsen, Frank Lammert, Konstantinos N. Lazaridis, Andrew L. Mason,