背景:维生素D在不同癌症中的积极作用已得到很好的确定。编码维生素D代谢成分的蛋白质似乎在维生素D的稳定性及其维持中起关键作用。维生素D受体(VDR)的多态性,载体球蛋白/结合蛋白(GC)和细胞色素P-450家族2,亚家族R,多肽1(CYP2R1)基因已被预测与癌症的发展有关。本研究旨在检测VDR的关联,GC球蛋白和CYP2R1基因多态性与印度东北部人群食管癌的风险。
方法:为了进行研究,共纳入100例诊断为食管癌的患者和101例健康对照.以案件控制的方式,对所有样品进行VDR上已知SNP的基因型测试(rs1544410),GC(rs4588),和CYP2R1(rs10741657)基因使用限制性片段长度多态性(RFLP),然后进行Sanger测序。使用统计软件包SPSSv22.0对收集的人口统计学和临床数据进行分析。
结果:发现VDR单倍型杂合TC与癌组密切相关(OR:1.09,95CI:0.67-1.75)。使用GC球蛋白rs4588表型进行危险因素分析,发现突变AA对癌症队列的有害影响呈正相关(OR=1.125,OR=1.125,95%CI,0.573-2.206)。CYP2R1rs10741657多态性对恶性队列的影响表明,GG突变体对癌有显著的负面影响,对疾病严重程度有影响(OR:1.736,95%CI;0.368-8.180)。
结论:结论:这项研究揭示了印度东北部人群中VDR基因多态性与食管癌进展和发展的潜在关联.
The proactive role of vitamin D has been well determined in different cancers. The protein that encodes the components of the vitamin D metabolism could appear to play a pivotal role in vitamin D stability and its maintenance. A polymorphism in vitamin-D-receptor (VDR), carrier globulin/binding protein (GC) and cytochrome P-450 family 2, subfamily R, polypeptide 1 (CYP2R1) genes has been predicted to be associated with the development of cancer. This study was designed to detect the association of VDR, GC Globulin and CYP2R1 gene polymorphism with the risk of esophageal cancer in the North-east Indian population.
To carry out the study, a total of 100 patients diagnosed with esophageal cancer and 101 healthy controls were enrolled. In a case-control manner, all samples were subjected to do genotype testing for known SNPs on the VDR (rs1544410), GC (rs4588), and CYP2R1 (rs10741657) genes using Restriction-fragment length polymorphism (
RFLP) followed by Sanger sequencing. The collected demographic and clinical data were analysed using the statistical software package SPSS v22.0.
The VDR haplotype heterozygous TC was found strongly associated with the carcinoma group (OR:1.09, 95%CI:0.67-1.75). The risk factors analysis using the GC globulin rs4588 phenotype, found a positive correlation in terms of mutant AA\'s harmful influence on the cancer cohort (OR = 1.125, OR=1.125, 95% CI, 0.573-2.206). The influence of the CYP2R1 rs10741657 polymorphism on the malignant cohort revealed that the GG mutant had a significant negative influence on the carcinoma, has an influential role in disease severity ( OR:1.736, at 95% CI; 0.368-8.180).
In conclusion, this study revealed the potential association of VDR gene polymorphism in the progression and development of esophageal cancer in north east Indian population cohort.