印度健康成年人中血红素加氧酶-1基因(GT)n重复序列启动子多态性与血清胆红素水平的关联

Association of (GT)n repeats promoter polymorphism of heme oxygenase-1 gene with serum bilirubin levels in healthy Indian adults.

作者信息

D'Silva Selma, Borse Vikrant, Colah Roshan B, Ghosh Kanjaksha, Mukherjee Malay B

机构信息

National Institute of Immunohaematology (ICMR), KEM Hospital, Parel, Mumbai, India.

出版信息

Genet Test Mol Biomarkers. 2011 Apr;15(4):215-8. doi: 10.1089/gtmb.2010.0132. Epub 2011 Jan 3.

DOI:10.1089/gtmb.2010.0132

PMID:21198350

Abstract

AIM

The present study was undertaken to investigate a length polymorphism of (GT)n repeats of the heme oxygenase-1 (HMOX-1) gene and its association with serum bilirubin levels in apparently healthy adults.

METHODS

A total of 211 individuals (normal hematology and liver function test) with bilirubin levels of 1.7 to 22.2 μM were studied. The (GT)n repeats were analyzed by PCR and subsequent sizing by capillary electrophoresis on the ABI Prism 310 Genetic Analyzer.

RESULTS

Polymorphisms of the (GT)n repeats were grouped into three classes: short (S) alleles (<20 repeats), intermediate (M) alleles (20-28 repeats), and long (L) alleles (≥ 29 repeats). The frequencies of the S, M, and L allele groups were 0.10, 0.49, and 0.41, respectively. Carriers of short alleles had significantly higher mean bilirubin levels (13.8 ± 5.10 μM) compared with others (9.18 ± 3.73 μM, p < 0.001).

CONCLUSION

Short (GT)n alleles of the HMOX-1 gene promoter could be a genetic risk factor for hyperbilirubinemia.

摘要

目的

本研究旨在调查血红素加氧酶-1（HMOX-1）基因（GT）n重复序列的长度多态性及其与健康成年人血清胆红素水平的关系。

方法

对211名（血液学和肝功能检查正常）胆红素水平在1.7至22.2μM之间的个体进行研究。通过PCR分析（GT）n重复序列，并在ABI Prism 310遗传分析仪上通过毛细管电泳进行后续大小测定。

结果

（GT）n重复序列的多态性分为三类：短（S）等位基因（<20次重复）、中（M）等位基因（20-28次重复）和长（L）等位基因（≥29次重复）。S、M和L等位基因组的频率分别为0.10、0.49和0.41。与其他个体（9.18±3.73μM，p<0.001）相比，短等位基因携带者的平均胆红素水平显著更高（13.8±5.10μM）。