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Association of VEGF haplotypes with breast cancer risk in North-West Indians
BMC Medical Genomics ( IF 2.1 ) Pub Date : 2021-08-24 , DOI: 10.1186/s12920-021-01060-4
Vasudha Sambyal 1 , Kamlesh Guleria 1 , Ruhi Kapahi 1 , Mridu Manjari 2 , Meena Sudan 3 , Manjit Singh Uppal 4 , Neeti Rajan Singh 4
Affiliation  

Angiogenesis is a complex and coordinated process regulated by different growth factors and is one of the hallmark features of cancer. VEGF is one of the most important endothelial cell mitogen and has a critical role in normal physiological and tumor angiogenesis. The objective of this study was to investigate the potential association of haplotypes of six VEGF polymorphisms with breast cancer risk in North-West Indians. Samples of 250 breast cancer patients and 250 age and sex matched controls were genotyped for VEGF −2578C/A, −2549I/D, −460T/C, +405C/G, −7C/T and +936C/T polymorphisms. Haplotypes were generated to determine the better contribution of VEGF polymorphisms to breast cancer risk. Haplotypes CDTCCC (OR = 0.56, 95%CI, 0.38–0.81; p = 0.003) and CDTGCC (OR = 0.63, 95%CI, 0.44–0.92; p = 0.018) of VEGF −2578C/A, −2549I/D, −460T/C, +405C/G, −7C/T and +936C/T polymorphisms were significantly associated with decreased risk of breast cancer. CDTCCC haplotype was also significantly associated with reduced risk of breast cancer in pre and post menopausal as well as both obese and non obese patients. Haplotype CDTGCC was marginally associated (p = 0.07) with reduced risk of breast cancer in non-obese patients as compared with non-obese controls where as haplotype AICGTC was marginally associated (p = 0.09) with reduced risk of breast cancer in obese patients when compared with non-obese patients. The CDTGCC haplotype was significantly associated with increased risk of breast cancer in premenopausal obese patients (OR = 1.98, 95%CI, 1.10–3.56; p = 0.02). Our data indicated that CDTCCC and CDTGCC haplotypes of VEGF −2578C/A, −2549I/D, −460T/C, +405C/G, −7C/T and +936C/T polymorphisms were significantly associated with breast cancer risk in North-West Indians. Further studies on multiethnic groups with larger sample size are required to confirm our results.

中文翻译:


西北印度人 VEGF 单倍型与乳腺癌风险的关联



血管生成是一个复杂且协调的过程,受不同生长因子的调节,是癌症的标志特征之一。 VEGF是最重要的内皮细胞有丝分裂原之一,在正常生理和肿瘤血管生成中具有关键作用。本研究的目的是调查西北印度人的六种 VEGF 多态性的单倍型与乳腺癌风险的潜在关联。对 250 名乳腺癌患者和 250 名年龄和性别匹配的对照样本进行 VEGF -2578C/A、-2549I/D、-460T/C、+405C/G、-7C/T 和 +936C/T 多态性基因分型。生成单倍型是为了确定 VEGF 多态性对乳腺癌风险的更好贡献。 VEGF −2578C/A、−2549I/D 的单倍型 CDTCCC(OR = 0.56,95%CI,0.38–0.81;p = 0.003)和 CDTGCC(OR = 0.63,95%CI,0.44–0.92;p = 0.018), −460T/C、+405C/G、-7C/T 和+936C/T 多态性与乳腺癌风险降低显着相关。 CDTCCC 单倍型还与绝经前后以及肥胖和非肥胖患者的乳腺癌风险降低显着相关。与非肥胖对照相比,单倍型 CDTGCC 与非肥胖患者的乳腺癌风险降低有边际相关(p = 0.07),而单倍型 AICGTC 与肥胖患者的乳腺癌风险降低有边际相关(p = 0.09)。与非肥胖患者相比。 CDTGCC 单倍型与绝经前肥胖患者患乳腺癌的风险增加显着相关(OR = 1.98,95% CI,1.10–3.56;p = 0.02)。我们的数据表明,VEGF -2578C/A、-2549I/D、-460T/C、+405C/G、-7C/T 和 +936C/T 多态性的 CDTCCC 和 CDTGCC 单倍型与北部地区的乳腺癌风险显着相关。西印度人。 需要对更大样本量的多种族群体进行进一步研究来证实我们的结果。
更新日期:2021-08-24
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