摘要:
探讨孤独症谱系障碍(ASD)儿童体内维生素B12水平,为ASD早期发现及药物治疗提供理论依据.方法 收集哈尔滨市ASD儿童和正常对照儿童各89人,应用酶联免疫吸附试验技术(ELISA)测定尿液甲基丙二酸(Methylmalonic acid,MMA)及血清维生素B12、转运蛋白转钴胺素蛋白Ⅱ(TranscobalaminⅡ,TCN2)的含量,应用SNaPshot对TCN2基因rs1801198位点进行基因分型.结果 ASD儿童的血清维生素B12和TCN2水平[(369.08±131.88)pmol/L,(1.56±0.16)ng/mL]均低于对照组儿童[(485.16±200.33)pmol/L,(1.71±0.17)ng/mL](t值分别为-5.47,-5.92,P值均<0.05),ASD儿童尿液中MMA水平[(758.97±106.96)ng/mL]高于对照组[(693.66±121.72)ng/mL](t=3.94,P<0.05);TCN2基因rs1801198位点基因多态性与ASD的患病风险的关联无统计学意义(P值均>0.05),与血清TCN2水平的关联无统计学意义(F=1.16,P>0.05).结论 ASD儿童维生素B12潜在缺乏,应在开展ASD干预的同时加强营养干预.
Abstract:
Objective To investigate the level of vitamin B12 in children with autism spectrum disorder (ASD), and provide a theoretical basis for early detection and drug treatment of ASD. Methods A total of 89 ASD cases and 89 matched controls were collected. The levels of urinary methylmalonic acid (MMA) and serum vitamin B12, Transcobalamin Ⅱ (TCN2) were determined by enzyme-linked immunosorbent assay (ELISA). TCN2 gene rs1801198 was genotyped by SNaPshot. Results The serum levels of vitamin B12 and TCN2 in children with ASD [ (369.08±131.88) pmol/L, (1.56±0.16) ng/mL] were significantly lower than those in the control group[ (485.16±200.33) pmol/L, (1.71±0.17) ng/mL] (t=-5.47,-5.92, P<0.05). The level of MMA in urine of ASD children [ (758.97±106.96) ng/mL] was significantly higher than that in the control group[ (693.66±121.72) ng/mL] (t=3.94, P<0.05); The genetic polymorphism of rs1801198 locus was not associated with the risk of ASD (P>0.05), and there was no significant correlation with serum TCN2 level (F=1.16, P>0.05). Conclusion ASD children are at a potential deficiency of vitamin B12 and should strengthen their nutritional interventions while conducting ASD interventions.
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