Department of Pediatrics, Cairo University, Cairo, Egypt.
J Investig Med. 2012 Jan;60(1):18-22. doi: 10.2310/JIM.0b013e318235479a.
Glutathione S-transferases (GSTs) are a polymorphic superfamily of multifunctional enzymes known to play an important role in the detoxification of several substances. GSTM1 and GSTT1 are present in the liver in relatively high levels. Polymorphisms of the GSTM1 and GSTT1 genes may affect ligandin functions that are important in bilirubin transportation.
The aim of this study was to investigate the role of GSTM1 and GSTT1 gene polymorphisms as risk factors for neonatal jaundice.
This study was conducted on 72 neonates with pathologic hyperbilirubinemia (bilirubin >15 mg/dL) and 112 neonates with bilirubin level less than 15 mg/dL as a control group. GSTM1 and GSTT1 genotypes were assessed by multiplex polymerase chain reaction.
GSTM1 null genotype was significantly higher in the patient compared with control groups (P = 0.005; odds ratio = 2.43; 95% confidence interval, 1.29-4.55) and was significantly associated with higher bilirubin levels compared with the wild genotype (P < 0.001). There was no statistically significant difference in the GSTT1 genotypes between the patient and the control groups. In the patient group, total bilirubin levels did not vary significantly among the null and wild GSTT1 genotypes (P = 0.108).
Neonates with the GSTM1 null genotype are at high risk to develop pathologic hyperbilirubinemia and may have higher bilirubin levels.
谷胱甘肽 S-转移酶(GSTs)是一个多功能酶的多态性超家族,已知在多种物质的解毒中发挥重要作用。GSTM1 和 GSTT1 在肝脏中含量较高。GSTM1 和 GSTT1 基因的多态性可能影响胆红素转运中重要的配体功能。
本研究旨在探讨 GSTM1 和 GSTT1 基因多态性作为新生儿黄疸危险因素的作用。
本研究共纳入 72 例病理性高胆红素血症(胆红素>15mg/dL)新生儿和 112 例胆红素水平<15mg/dL 的新生儿作为对照组。采用多重聚合酶链反应检测 GSTM1 和 GSTT1 基因型。
与对照组相比,患者组 GSTM1 缺失基因型明显更高(P=0.005;优势比=2.43;95%置信区间,1.29-4.55),且与野生基因型相比,胆红素水平明显更高(P<0.001)。患者组和对照组 GSTT1 基因型之间无统计学差异。在患者组中,GSTM1 缺失和野生型 GSTT1 基因型之间的总胆红素水平无显著差异(P=0.108)。
GSTM1 缺失基因型的新生儿发生病理性高胆红素血症的风险较高,可能胆红素水平较高。