PhD. Department of Pediatrics, The Fifth People's Hospital of Shenzhen, Shenzhen, China.
J Pediatr (Rio J). 2013 Sep-Oct;89(5):434-43. doi: 10.1016/j.jped.2013.01.008. Epub 2013 Jul 11.
To determine whether three variants (388 G>A, 521 T>C, and 463 C>A) of the solute carrier organic anion transporter family member 1B1 (SLCO1B1) are associated with neonatal hyperbilirubinemia.
The China National Knowledge Infrastructure and MEDLINE databases were searched. The systematic review with meta-analysis included genetic studies which assessed the association between neonatal hyperbilirubinemia and 388 G>A, 521 T>C, and 463 C>A variants of SLCO1B1 between January of 1980 and December of 2012. Data selection and extraction were performed independently by two reviewers.
Ten articles were included in the study. The results revealed that SLCO1B1 388 G>A is associated with an increased risk of neonatal hyperbilirubinemia (OR, 1.39; 95% CI, 1.07-1.82) in Chinese neonates, but not in white, Thai, Latin American, or Malaysian neonates. The SLCO1B1 521 T>C mutation showed a low risk of neonatal hyperbilirubinemia in Chinese neonates, while no significant associations were found in Brazilian, white, Asian, Thai, and Malaysian neonates. There were no significant differences in SLCO1B1 463 C>A between the hyperbilirubinemia and the control group.
This study demonstrated that the 388 G>A mutation of the SLCO1B1 gene is a risk factor for developing neonatal hyperbilirubinemia in Chinese neonates, but not in white, Thai, Brazilian, or Malaysian populations; the SLCO1B1 521 T>C mutation provides protection for neonatal hyperbilirubinemia in Chinese neonates, but not in white, Thai, Brazilian, or Malaysian populations.
探讨溶质载体有机阴离子转运家族成员 1B1(SLCO1B1)的 3 个变异(388G>A、521T>C 和 463C>A)是否与新生儿高胆红素血症相关。
检索中国知网和 MEDLINE 数据库。系统评价和荟萃分析纳入了评估 SLCO1B1 的 388G>A、521T>C 和 463C>A 变异与新生儿高胆红素血症之间相关性的遗传研究,这些研究的时间范围为 1980 年 1 月至 2012 年 12 月。数据选择和提取由两名评审员独立完成。
本研究共纳入 10 篇文献。结果显示,在中国新生儿中,SLCO1B1 388G>A 与新生儿高胆红素血症风险增加相关(OR=1.39,95%CI:1.07-1.82),但在白种人、泰国人、拉丁美洲人和马来西亚人中并非如此。SLCO1B1 521T>C 突变在中国新生儿中显示出新生儿高胆红素血症的低风险,但在巴西人、白种人、亚洲人、泰国人和马来西亚人中未发现显著相关性。SLCO1B1 463C>A 与高胆红素血症组和对照组之间无显著差异。
本研究表明,SLCO1B1 基因的 388G>A 突变是中国新生儿发生新生儿高胆红素血症的危险因素,但不是白种人、泰国人、巴西人和马来西亚人的危险因素;SLCO1B1 521T>C 突变可降低中国新生儿高胆红素血症的风险,但不是白种人、泰国人、巴西人和马来西亚人的危险因素。