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    Association between PPARGC1A polymorphisms and the occurrence of nonalcoholic fatty liver disease (NAFLD)

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    <p>Abstract</p> <p>Background</p> <p>Genetic factors as well as environmental factors are important in the development of NAFLD and in this study we investigated associations between polymorphisms of peroxisome proliferators-activated receptor γ coactivator 1α polymorphism (<it>PPARGC1A</it>) and NAFLD.</p> <p>Aims</p> <p>We recruited 115 patients with biopsy-proven NAFLD, 65 with NASH and 50 with simple steatosis, and 441 healthy control subjects and investigated 15 SNPs of <it>PPARGC1A</it>.</p> <p>Results</p> <p>SNP rs2290602 had the lowest <it>p </it>value in the dominant mode (<it>p </it>= 0.00095), and the odds ratio for NAFLD (95% CI) was 2.73 (1.48 – 5.06). rs2290602 was significantly associated with NAFLD even when the most conservative Bonferroni's correction was applied (<it>p </it>= 0.0143). The frequency of the T allele of rs2290602 was significantly higher in the NASH patients than in the control subjects (<it>p </it>= 0.00093, allele frequency mode), and its frequency in the NASH patients tended to be higher than in the simple steatosis patients (<it>p </it>= 0.09). The results of the real-time RT-PCR study showed that intrahepatic mRNA expression of <it>PPARGC1A </it>was lower in the TT group than in the GG or GT group at SNP rs2290602 (p = 0.0454).</p> <p>Conclusion</p> <p>This is the first study to demonstrate a significant association between genetic variations in <it>PPARGC1A </it>and NAFLD. This finding suggested that <it>PPARGC1A </it>polymorphism and lower expression of <it>PPARGC1A </it>mRNA in the liver are an important genetic contribution to etiology of NAFLD.</p

    Association between PPARGC1A polymorphisms and the occurrence of nonalcoholic fatty liver disease (NAFLD)-0

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    pair of SNPs and are shown as the strand of the LD blocks. The minor allele frequencies of all SNPs used in this analysis were >20%. Each SNP is labeled with its rs number.<p><b>Copyright information:</b></p><p>Taken from "Association between PPARGC1A polymorphisms and the occurrence of nonalcoholic fatty liver disease (NAFLD)"</p><p>http://www.biomedcentral.com/1471-230X/8/27</p><p>BMC Gastroenterology 2008;8():27-27.</p><p>Published online 27 Jun 2008</p><p>PMCID:PMC2453128.</p><p></p

    Association between PPARGC1A polymorphisms and the occurrence of nonalcoholic fatty liver disease (NAFLD)-1

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    Oup (n = 10) at SNP rs2290602 (p = 0.0454).<p><b>Copyright information:</b></p><p>Taken from "Association between PPARGC1A polymorphisms and the occurrence of nonalcoholic fatty liver disease (NAFLD)"</p><p>http://www.biomedcentral.com/1471-230X/8/27</p><p>BMC Gastroenterology 2008;8():27-27.</p><p>Published online 27 Jun 2008</p><p>PMCID:PMC2453128.</p><p></p
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