泰国高胆红素血症新生儿的基因多态性

Genetic polymorphisms in Thai neonates with hyperbilirubinemia.

作者信息

Prachukthum Sariya, Nunnarumit Pracha, Pienvichit Paneeya, Chuansumrit Ampaiwan, Songdej Daunthida, Kajanachumpol Saowanee, Pakakasama Samart, Hongeng Suradej

机构信息

Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani, Thailand.

出版信息

Acta Paediatr. 2009 Jul;98(7):1106-10. doi: 10.1111/j.1651-2227.2009.01275.x. Epub 2009 Apr 21.

DOI:10.1111/j.1651-2227.2009.01275.x

PMID:19397531

Abstract

AIM

Polymorphisms of the UGT1A1 gene, SLCO1B1 gene and GST gene have been associated with significant hyperbilirubinemia. We would like to determine whether the variation of UGT1A1 gene, SLCO1B1 gene and GST gene may play a significant role in neonatal hyperbilirubinemia in Thai infants.

METHODS

Ninety-one study subjects (hyperbilirubinemic group) and 86 control subjects were studied.

RESULTS

The cause of neonatal hyperbilirubinemia could not be identified in 64 infants (70.3%), ABO blood group incompatibility in 14.3% and Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in 8.8%. In the hyperbilirubinemic group, 23 of 91 (25.3%) infants demonstrated variant of UGT1A1 at nucleotides (nt) 211 as compared to 6 of 86 (7%) in the control group (p = 0.001). There were no significant differences between groups in the variants UGT1A1 at nt 686, SLCO1B1 gene at nt 388, 463 and the GST gene. Male infants with G-6-PD deficiency were associated with hyperbilirubinemia (21.2% vs. 4.8% in the control group) with an odds ratio (OR) of 5.37 (p = 0.02). The relationship between G-6-PD and variant in UGT1A1 gene at nt 211 could not be determined.

CONCLUSION

Thai infants with variant in the UGT1A1 at nt 211 or with G-6-PD deficiency are at higher risk for developing neonatal hyperbilirubinemia.

摘要

目的

UGT1A1基因、SLCO1B1基因和GST基因的多态性与显著高胆红素血症有关。我们想确定UGT1A1基因、SLCO1B1基因和GST基因的变异是否可能在泰国婴儿的新生儿高胆红素血症中起重要作用。

方法

对91名研究对象（高胆红素血症组）和86名对照对象进行了研究。

结果

64名婴儿（70.3%）无法确定新生儿高胆红素血症的病因，14.3%为ABO血型不合，8.8%为葡萄糖-6-磷酸脱氢酶（G-6-PD）缺乏。在高胆红素血症组中，91名婴儿中有23名（25.3%）在核苷酸（nt）211处表现出UGT1A1变异，而对照组86名婴儿中有6名（7%）出现该变异（p = 0.001）。两组在nt 686处的UGT1A1变异、nt 388、463处的SLCO1B1基因变异和GST基因变异方面无显著差异。患有G-6-PD缺乏的男婴与高胆红素血症相关（21.2%对对照组的4.8%），优势比（OR）为5.37（p = 0.02）。无法确定G-6-PD与nt 211处UGT1A1基因变异之间的关系。