西北印度人群中缺氧诱导因子-1α基因多态性与乳腺癌无关联。

No association of hypoxia inducible factor-1α gene polymorphisms with breast cancer in North-West Indians.

作者信息

Sharma Sarika, Kapahi Ruhi, Sambyal Vasudha, Guleria Kamlesh, Manjari Mridu, Sudan Meena, Uppal Manjit Singh, Singh Neeti Rajan

机构信息

Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India E-mail :

出版信息

Asian Pac J Cancer Prev. 2014;15(22):9973-8. doi: 10.7314/apjcp.2014.15.22.9973.

DOI:10.7314/apjcp.2014.15.22.9973

PMID:25520138

Abstract

BACKGROUND

Hypoxia inducible factor-1 alpha (HIF-1α) is the key regulator of cellular responses to hypoxia and plays a central role in tumour growth. Presence of Single nucleotide polymorphisms (SNPs) in the critical regulatory domains of HIF-1α may result in the overexpression of the protein and subsequent changes in the expression of the downstream target genes. The aim of study was to investigate the association of three SNPs (g.C111A, g.C1772T and g.G1790A) of HIF-1α with the risk of breast cancer in North Indian sporadic breast cancer patients.

MATERIALS AND METHODS

A total of 400 subjects, including 200 healthy controls and 200 patients with breast cancer were recruited in this study. Genotypes were determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.

RESULTS

The CC and CA genotype frequency of HIF-1α g.C111A polymorphism was 100 vs 99% and 0 vs 1% in breast cancer patients and healthy controls respectively. The frequencies of CC, CT and TT genotype of g.C1772T polymorphism were 76 vs 74.5%, 19 vs 21% and 5 vs 4.5% in breast cancer patients and control individuals respectively. There was no significant difference in genotype and allele frequencies of HIF-1α g.C1772T polymorphism between cases and control individuals (p>0.05). For g.G1790A genotypes, all patients and controls had only GG genotype.

CONCLUSIONS

The three HIF-1α polymorphisms (g.C111A, g.C1772T and g.G1790A) are not associated with breast cancer risk in North-West Indian patients.

摘要

背景

缺氧诱导因子-1α（HIF-1α）是细胞对缺氧反应的关键调节因子，在肿瘤生长中起核心作用。HIF-1α关键调节域中的单核苷酸多态性（SNP）可能导致该蛋白过度表达，进而使下游靶基因的表达发生变化。本研究旨在探讨HIF-1α的三个SNP（g.C111A、g.C1772T和g.G1790A）与北印度散发性乳腺癌患者患乳腺癌风险之间的关联。

材料与方法

本研究共招募了400名受试者，包括200名健康对照者和200名乳腺癌患者。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法确定基因型。

结果

HIF-1α g.C111A多态性的CC和CA基因型频率在乳腺癌患者和健康对照者中分别为100%对99%和0%对1%。g.C1772T多态性的CC、CT和TT基因型频率在乳腺癌患者和对照个体中分别为76%对74.5%、19%对21%和5%对4.5%。病例组和对照组个体之间HIF-1α g.C1772T多态性的基因型和等位基因频率无显著差异（p>0.05）。对于g.G1790A基因型，所有患者和对照者均只有GG基因型。