Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update

被引:6
|
作者
Wertheim-Tysarowska, Katarzyna [1 ]
Oracz, Grzegorz [2 ]
Rygiel, Agnieszka Magdalena [1 ]
机构
[1] Inst Mother & Child Hlth, Dept Med Genet, Kasprzaka 17a, PL-01211 Warsaw, Poland
[2] Childrens Mem Hlth Inst, Dept Gastroenterol Hepatol Feeding Disorders & Pe, Aleja Dzieci Polskich 20, PL-04730 Warsaw, Poland
关键词
early-onset nonalcoholic chronic pancreatitis; hereditary pancreatitis; CP; HP; oligogenic disease; SERINE-PROTEASE INHIBITOR; CATIONIC TRYPSINOGEN PRSS1; EVIDENCE-BASED GUIDELINES; CYSTIC-FIBROSIS GENE; LIPASE CEL GENE; HEREDITARY PANCREATITIS; KAZAL TYPE-1; CLINICAL-COURSE; CTRC VARIANTS; MUTATIONS;
D O I
10.3390/genes12050785
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Chronic pancreatitis (CP) is a progressive, irreversible inflammatory disorder of the pancreas, which results from interrelations between different genetic and environmental factors. Genetic variants are the primary cause of the disease in early-onset nonalcoholic CP patients. Novel CP-associated genes are continuously emerging from genetic studies on CP cohorts, providing important clues for distinct mechanisms involved in CP development. On the basis of functional studies, the genetic alterations have been sub-grouped into CP-driving pathological pathways. This review focuses on the concept of CP as a complex disease driven by multiple genetic factors. We will discuss only well-defined genetic risk factors and distinct functional pathways involved in CP development, especially in the context of the early-onset nonalcoholic CP group. The diagnostic implications of the genetic testing will be addressed as well.
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页数:13
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