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印度安得拉邦IL28B基因多态性的基因型和等位基因频率分布

The Distribution of Genotype and Allelic Frequency of IL28B Gene Polymorphism in Andhra Pradesh, India.

作者信息

Sivaprasad Siddapuram, Rao Padaki Nagaraja, Gupta Rajesh, Ashwini Kaitha, Reddy Duvvuru Nageshwar

机构信息

Department of Medical Genetics, Institute of Basic Sciences and Translational Research, Hyderabad, India.

Asian Institute of Gastroenterology, Hyderabad, India.

出版信息

J Clin Exp Hepatol. 2012 Jun;2(2):112-5. doi: 10.1016/S0973-6883(12)60098-X. Epub 2012 Jul 21.

Abstract

BACKGROUND

The single nucleotide polymorphism (SNP) of IL28B gene on chromosome 19, encoding for the interferon (IFN)-λ-3 is strongly associated with treatment response to pegylated-IFN and ribavirin in patients infected with different genotypes of hepatitis C virus (HCV). Difference between ethnicity and treatment response rates suggesting a key role of host genetics. The IL28B polymorphism (rs12979860C/T) shows a marked differential distribution between racial groups.

AIM

The present study is aimed to evaluate genotype and allelic frequency of IL28B gene polymorphism (rs12979860C/T) in Andhra Pradesh, India.

METHODS

A total of 220 healthy controls were recruited for the study. The genotyping of SNP rs12979860C/T on IL28B gene was performed by polymerase chain reaction-direct sequencing method.

RESULT

The frequency of CC genotype was found to be significantly (59.09%) higher compared to CT (34.09%) and TT (6.81%) genotypes, respectively. The frequency of major allele C is 0.762 whereas minor allele T is 0.238.

CONCLUSION

The higher distribution of genotype 'CC' of SNP, rs12979860C/T of IL28B gene in study subjects is suggestive of better response of HCV patients to standard anti-HCV therapy.

摘要

背景

位于19号染色体上的白细胞介素28B(IL28B)基因的单核苷酸多态性(SNP),其编码干扰素(IFN)-λ-3,与感染不同基因型丙型肝炎病毒(HCV)患者对聚乙二醇化干扰素和利巴韦林的治疗反应密切相关。种族差异与治疗反应率之间的差异表明宿主遗传学起着关键作用。IL28B基因多态性(rs12979860C/T)在不同种族群体中呈现出明显的分布差异。

目的

本研究旨在评估印度安得拉邦IL28B基因多态性(rs12979860C/T)的基因型和等位基因频率。

方法

共招募220名健康对照者参与本研究。采用聚合酶链反应-直接测序法对IL28B基因的SNP rs12979860C/T进行基因分型。

结果

发现CC基因型的频率(59.09%)分别显著高于CT基因型(34.09%)和TT基因型(6.81%)。主要等位基因C的频率为0.762,而次要等位基因T的频率为0.238。

结论

研究对象中IL28B基因的SNP rs12979860C/T的“CC”基因型分布较高,提示HCV患者对标准抗HCV治疗的反应较好。

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