engleski

Influence of the different lipoprotein lipase gene polymorphisms on developing pancreatitis of different etiology in Croatian patients

Background and purpose. Lipoprotein lipase polymorphisms lipids and lipoproteins contribute in the pathogenesis of several diseases such as pancreatitis. The aim of this study was the screening for the mutations and polymorphisms of the lipoprotein lipase gene, as well as investigation of the influence of different polymorphisms on development of pancreatitis. Methods. 77 Croatian patients with pancreatitis of different etiology and 98 control subjects were included. The screening of the coding region was performed with PCR-SSCP. We have found the following gene variants: D9N, N291S and S447X, which were confirmed with DNA sequence analysis and RFLPs. Two intronic polymorphisms Hind III and Pvu II were analyzed by RFLPs. Results. X allele of LPL S447X genetic variant was less frequent in individuals with pancreatitis (p<0.05). Odds ratio for association between LPL-S447X and pancreatitis was 0.39 (95% C.I. 0.176-0.866, p<0.05). In the patient group, HDL-C levels were significantly higher in carriers of 447-X allele (p<0.05). TG levels were significantly higher in carriers of LPL-Pvu II P+ allele (p=0.05) in the patient group. Conclusions. LPL-S447X polymorphism may have protective role against pancreatitis. LPL-Pvu II and Hind III polymorphism can contribute in differences of lipid profile in individuals with pancreatitis. LPL genetic variations may be of considerable importance in understanding of genetic predisposition to pancreatitis of different etiology.

Lipoprotein lipase; Pancreatitis; Polymorphism; Restriction fragment length; Polymorphism; Single Strand Conformation

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