Nonalkolik Yağlı Karaciğer Hastalığı ile PNPLA3 Geni I148M Polimorfizmi Arasındaki İlişki

  • Ayşe Güldem Kilciler
  • Betül Koyuncu
  • Cem Balantekin
  • Ufuk Kutluana
  • Beyza Doğanay Erdoğan


Aim: The aim of the study is to evaluate the relationship between PNPLA3 gene I148M polymorphism and nonalcoholic fatty liver disease (NAFLD) in nondiabetic subjects. Materials and Methods: The study group consisted of 152 NAFLD patients who were detected by ultrasonography and 165 controls with ultrasonographically normal livers. Biochemical analyses were performed and body mass index was calculated for all subjects in the study. The samples were then genotyped  for PNPLA3 I148M polymorphism using Real-Time PCR method. Results: The body mass index was significantly higher  in patients with NAFLD than in controls (p< 0.001). The low density lipoprotein (LDL) and high density lipoprotein (HDL) levels were similar in the two groups.  Mean fasting blood glucose, aspartate aminotransferase (AST), alanine aminotransferase (ALT), and γ -glutamyltransferase (GGT), triglyceride(TG) and total cholesterol levels were significantly higher in the patient group compared to controls (p < 0.001). PNPLA3 I148M polymorphism was statistically significantly associated with the risk of NAFLD (χ2=23.846, p<0.001). Moreover, individuals with the GG genotype had a 4.8 fold  increased risk of NAFLD (χ2=18.190, p<0.001, OR=4.807, %95 CI=2.215-10.430). The C allele was protective against NAFLD (χ2=23.426, p<0.001, OR=0.442, %95 CI=0.317-0.617), whereas the G allele was a genetic risk factor for NAFLD (χ2=23.426, p<0.001, OR=2.261, %95 CI=1.620-3.155). Conclusion: This study is the first  to reveal the association between PNPLA3 gene I148M polymorphism and nondiabetic NAFLD  subjects in Turkish population. Key words: nonalcoholic fatty liver disease (NAFLD), PNPLA3, single nucleotide polymorphism (SNP), SNP genotyping  
Original Research