Genetic basis for cholecystolithiasis. Existing state of knowledge
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Clinical Genetics Department, Medical University, Lublin, Poland
General Surgery Department, Independent Public Hospital and Health Care Centre in Lubartów, Poland
Human Anatomy Department, Medical University, Lublin, Poland
Przemysław Łodej   

Clinical Genetics Department, Medical University, Radziwiłłowska 11, 20-080 Lublin, Poland
J Pre Clin Clin Res. 2013;7(1):1–5
Introduction and objective:
The pathogenesis of cholecystolithiasis is not well recognized. It is postulated that coexistence of environmental factors with genetic factors in individuals predispose to this illness. In this study the authors present the current state of knowledge about the pathogenesis of cholecystolithiasis and predisposing genetic factors such as: genes polymorphisms, genes expression and genetic mutations.

Abbreviated description of the state of knowledge:
The obesity, the female sex, numerous pregnancies, diabetes, cirrhosis, type C hepatitis, coronary heart disease, long-term parenteral nutrition are well known risk factors. Also the polymorphisms in some genes are connected with cholecystolithiasis, for example: polymorphisms within MUC1 and MUC2 mucin genes, ABCG8 D19H gene encoding halftransporter. Mutated forms of some proteins such as: SLC10A2 (Solute Carrier Family 10 Member 2), increased expression of NPC1L1 protein (Niemann Pick C1 Like Protein 1) and ACAT2 (Acyl Coenzyme A-cholesterol Transferase), over expression of SCP2 gene (Carrier Sterol Protein 2), the mutation of the UGT1A1 gene (Uridine 5’-diphosphate-glucuronosyltransferase 1 A1) can predispose to the development of gallstones.

The incidence of cholecystolithiasis is constantly increasing. At present this disease constitutes the most frequent cause of surgical interventions in Europe, in the USA and in Australia. The lengthened life span, the rising percentage of obese individuals, suffering from diseases associated with the progress of civilization as well as the ageing of societies may influence on the development of cholecystolithiasis.

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