Gibson P S, Quaglia A, Dhawan A, Wu H, Lanham-New S, Hart K H, Fitzpatrick E, Moore J B
Department of Nutritional Sciences, School of Biosciences and Medicine, Faculty of Health and Medical Sciences, University of Surrey, Guildford, UK.
Pediatric Liver, GI and Nutrition Centre, King's College London School of Medicine at King's College Hospital, London, UK.
Pediatr Obes. 2018 Jul;13(7):433-441. doi: 10.1111/ijpo.12293. Epub 2018 May 14.
Vitamin D deficiency has been associated with non-alcoholic fatty liver disease (NAFLD). However, the role of polymorphisms determining vitamin D status remains unknown.
The objectives of this study were to determine in UK children with biopsy-proven NAFLD (i) their vitamin D status throughout a 12-month period and (ii) interactions between key vitamin D-related genetic variants (nicotinamide adenine dinucleotide synthase-1/dehydrocholesterol reductase-7, vitamin D receptor, group-specific component, CYP2R1) and disease severity.
In 103 paediatric patients with NAFLD, serum 25-hydroxyvitamin D (25OHD) levels and genotypes were determined contemporaneously to liver biopsy and examined in relation to NAFLD activity score and fibrosis stage.
Only 19.2% of children had adequate vitamin D status; most had mean 25OHD levels considered deficient (<25 nmol·L , 25.5%) or insufficient (<50 nmol·L , 55.3%). Patients had significantly lower 25OHD levels in winter months (95% CI: 22.7-31.2 nmol·L ) when compared with spring (30.5-42.1 nmol·L ; P = 0.0089), summer (36.3-47.2 nmol·L ; P < 0.0001) and autumn (34.2-47.5 nmol·L ; P = 0.0003). Polymorphisms in the nicotinamide adenine dinucleotide synthase-1/dehydrocholesterol reductase-7 (rs3829251, rs12785878) and vitamin D receptor (rs2228570) genes were independently associated with increased steatosis; while a group-specific component variant (rs4588) was associated with increased inflammation in liver biopsies.
Children with NAFLD in the UK have particularly low winter vitamin D status, with vitamin D insufficiency prevalent throughout the year. Polymorphisms in the vitamin D metabolic pathway are associated with histological severity of paediatric NAFLD.
维生素D缺乏与非酒精性脂肪性肝病（NAFLD）有关。然而，决定维生素D状态的多态性的作用仍不清楚。
本研究的目的是确定在英国经活检证实患有NAFLD的儿童中，（i）他们在12个月期间的维生素D状态，以及（ii）关键的维生素D相关基因变异（烟酰胺腺嘌呤二核苷酸合酶-1/脱氢胆固醇还原酶-7、维生素D受体、组特异性成分、CYP2R1）与疾病严重程度之间的相互作用。
在103例患有NAFLD的儿科患者中，在进行肝活检时同时测定血清25-羟基维生素D（25OHD）水平和基因型，并根据NAFLD活动评分和纤维化阶段进行检查。
只有19.2%的儿童维生素D状态充足；大多数儿童的平均25OHD水平被认为缺乏（<25 nmol·L，25.5%）或不足（<50 nmol·L，55.3%）。与春季（30.5 - 42.1 nmol·L；P = 0.0089）、夏季（36.3 - 47.2 nmol·L；P < 0.0001）和秋季（34.2 - 47.5 nmol·L；P = 0.0003）相比，患者在冬季的25OHD水平显著较低（95%CI：22.7 - 31.2 nmol·L）。烟酰胺腺嘌呤二核苷酸合酶-1/脱氢胆固醇还原酶-7（rs3829251，rs12785878）和维生素D受体（rs2228570）基因的多态性与脂肪变性增加独立相关；而一种组特异性成分变异（rs4588）与肝活检中炎症增加有关。
英国患有NAFLD的儿童冬季维生素D状态特别低，全年维生素D不足普遍存在。维生素D代谢途径中的多态性与儿童NAFLD的组织学严重程度有关。
