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羟甾体 17-β 脱氢酶 13 基因中的 rs72613567:TA 变体可减少肥胖儿童的肝损伤。

The rs72613567: TA Variant in the Hydroxysteroid 17-beta Dehydrogenase 13 Gene Reduces Liver Damage in Obese Children.

机构信息

Department of Woman, Child and of General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Naples, Italy.

出版信息

J Pediatr Gastroenterol Nutr. 2020 Mar;70(3):371-374. doi: 10.1097/MPG.0000000000002573.

Abstract

We first investigated in obese children the protective role of the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) rs72613567:TA variant in liver damage. Six hundred eighty-five obese children were genotyped for HSD17B13, patatin-like phospholipase domain containing 3 (PNPLA3), transmembrane 6 superfamily member 2 (TM6SF2), and membrane bound O-acyltransferase domain containing 7 (MBOAT7) polymorphisms and underwent anthropometrical, ultrasonographic, and biochemical evaluation. Indirect measurement of liver fibrosis (Pediatric NAFLD Fibrosis Index [PNFI]) was calculated. The population was clustered in 2 genetic risk groups based on the numbers of steatogenic alleles (low: carriers up to 3 risk alleles, high: 4-6 risk alleles). Carriers of the HSD17B13 rare A allele showed lower percentage of hepatic steatosis and both lower serum transaminase and PNFI levels than noncarriers, even after adjustments for confounders. These findings were also confirmed in both risk groups. We demonstrated the protective effect of the rs72613567:TA HSD17B13 variant in reducing liver damage in obese children regardless of genetic predisposition.

摘要

我们首先在肥胖儿童中研究了羟甾体 17-β 脱氢酶 13(HSD17B13)rs72613567:TA 变体在肝损伤中的保护作用。对 685 名肥胖儿童进行了 HSD17B13、patatin 样磷脂酶结构域包含 3(PNPLA3)、跨膜 6 超家族成员 2(TM6SF2)和膜结合酰基转移酶结构域包含 7(MBOAT7)多态性的基因分型,并进行了人体测量学、超声和生化评估。计算了间接测量肝纤维化的指标(儿童非酒精性脂肪性肝病纤维化指数[PNFI])。该人群根据致脂等位基因的数量聚类为 2 个遗传风险组(低:携带者最多 3 个风险等位基因,高:4-6 个风险等位基因)。与非携带者相比,HSD17B13 罕见 A 等位基因的携带者肝脂肪变性的比例较低,血清转氨酶和 PNFI 水平也较低,即使在调整混杂因素后也是如此。这些发现也在两个风险组中得到了证实。我们证明了 rs72613567:TA HSD17B13 变体在降低肥胖儿童肝损伤方面的保护作用,而与遗传易感性无关。

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