Non-Alcoholic fatty liver disease (NAFLD) is known as a common public health problem worldwide. Genetic variant as well as environmental factor interact to develop NAFLD. The allele frequency of PNPLA3 and GCKR variant varied in different ethnic groups. Our study aimed to recognize the association of the PNPLA3 rs738409 and GCKR rs1260326 with the occurrence and progression of NAFLD in obese Egyptian children. PNPLA3 rs738409 and GCKR rs1260326 were genotyped using RFLPPCR in 80 patients with NAFLD (40 with NAFL and 40 with non-alcoholic steatohepatitis [NASH]) and 80 control subjects. Comparison was made between NAFLD and control as well as between NAFL and NASH. The risk allele (G) allele frequency of PNPLA3 rs738409 was 0.456 in patients and 0.363 in control. Whereas, the risk allele (T) allele frequency of GCKR rs1260326 was 0.488 in patients and 0.331 in control. These two alleles show highly association with NAFLD (P = 0.00). Comparison between NAFL and NASH revealed that the frequencies of the (G) allele in PNPLA3 rs738409 were 0.3875, 0.5 in NAFL and NASH, respectively. Moreover, the allele frequencies of the (T) allele in GCKR rs1260326 were 0.413 and 0.575 in NAFL and NASH, respectively. Our findings demonstrate that both SNPs were highly associated with NASH. It is concluded that the PNPLA3 rs738409 and GCKR rs1260326 may have an important role in the development of NAFLD in obese Egyptian Children.

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