Association of single nucleotide polymorphism in patatin like phopholipase domain containing 3 (PNPLA3) gene with paediatric non-alcoholic fatty liver disease

Rubaiyat Alam, Kaniz Fathema, Md Rukunuzzaman, Khan Lamia Nahid, Sharmin Mahbuba, Lubana Akram, Abu Naser Ibne Sattar
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Abstract

Background: Non-alcoholic fatty liver disease (NAFLD) is the most unabating cause of chronic liver disease in children and adolescents. The aim of this study was to examine the association of paediatric NAFLD and single nucleotide polymorphism in patatin like phopholipase domain containing 3 (PNPLA3) gene. ­Methods:Τhis case-control study was carried out from June 2021 to December 2022. A total of 51 overweight children aged 6  17 years were recruited in this study and divided into NAFLD (cases) and non-NAFLD (controls) groups on the basis of hepatic steatosis detected by liver ultrasonography. We analyzed the rs738409 polymorphism by TaqMan assay and examined its association with NAFLD. ­­­­­Results: A total of 31 (60.7%) children were in case group and 20 children were in control group. Body mass index, waist circumference, total cholesterol and triglycerides levels were statistically higher in NAFLD group. Homogygosity (GG status) and heterogygosity (CG status) for PNPLA3 polymorphism was seen in 2 (6.4%) and 18 (58.1%) children having NAFLD, respectively. PNPLA3 rs738409 genotypes were similar between case and control groups. Conclusion: No association was found between PNPLA3 rs 738409 SNP with the presence of NAFLD in children. Bangabandhu Sheikh Mujib Medical University Journal 2023;16(3): 139-143
含PNPLA3基因的patatin样磷脂酶结构域单核苷酸多态性与儿童非酒精性脂肪肝的关系
背景:非酒精性脂肪性肝病(NAFLD)是儿童和青少年慢性肝病最不减弱的病因。本研究旨在探讨小儿NAFLD与PNPLA3基因单核苷酸多态性的关系。方法:Τhis于2021年6月至2022年12月进行病例对照研究。本研究共招募51例6 ~ 17岁超重儿童,根据肝脏超声检查肝脏脂肪变性分为NAFLD(病例)组和非NAFLD(对照组)组。采用TaqMan法分析rs738409多态性,并探讨其与NAFLD的相关性。——结果:病例组31例(60.7%),对照组20例。NAFLD组体重指数、腰围、总胆固醇和甘油三酯水平均高于NAFLD组。PNPLA3多态性的同质性(GG状态)和异质性(CG状态)分别在2例(6.4%)和18例(58.1%)NAFLD患儿中发现。PNPLA3 rs738409基因型在病例组和对照组之间相似。结论:PNPLA3 rs 738409 SNP与儿童NAFLD的存在无相关性。Bangabandhu Sheikh Mujib医科大学学报,2023;16(3):139-143
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