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Abstract：
BACKGROUND: Type 2 diabetes mellitus (T2DM) mainly results from the inability of muscle, fat, and liver cells to uptake glucose due to insulin resistance or deficiency of insulin production by the pancreas. Predisposition to T2DM may be due to environmental, hereditary, or both factors. Although there are many genes involved in causing T2DM, transcription factor 7-like-2 gene (TCF7L2) rs7903146 (C/T) single nucleotide polymorphism (SNP) found in genome-wide association studies (GWAS) is susceptible to T2DM. TCF7L2 is involved in pancreatic beta cell proliferation and differentiation via the Wnt signaling mechanism.
OBJECTIVE: To find the genetic association of TCF7L2 rs7903146 (C/T) gene polymorphism in patients with T2DM.
METHODS: A case-control study was conducted on 194 T2DM patients recruited from the endocrinology department at Indira Gandhi Institute of Medical Sciences, Patna, and 180 non-diabetic healthy controls that were age and sex-matched with the patients. All clinical examination and biochemical investigations like glycosylated hemoglobin (HbA1c), total cholesterol, triglycerides, high-density lipoprotein-cholesterol, and low-density lipoprotein-cholesterol; and determination of TCF7L2 gene polymorphism by allele-specific polymerase chain reaction (AS-PCR) were carried out for each subject.
RESULTS: The T allele of the rs7903146 (C/T) SNP was associated with a two-fold higher risk of T2DM and the heterozygous genotype (CT) with a 1.96 times higher risk.
CONCLUSIONS: There is a high association of this SNP with the development of T2DM in the eastern Indian population. Serial monitoring of HbA1c should be done in an individual having this type of polymorphism for early detection of T2DM to prevent future complications.
OBJECTIVE: To find the genetic association of TCF7L2 rs7903146 (C/T) gene polymorphism in patients with T2DM.
METHODS: A case-control study was conducted on 194 T2DM patients recruited from the endocrinology department at Indira Gandhi Institute of Medical Sciences, Patna, and 180 non-diabetic healthy controls that were age and sex-matched with the patients. All clinical examination and biochemical investigations like glycosylated hemoglobin (HbA1c), total cholesterol, triglycerides, high-density lipoprotein-cholesterol, and low-density lipoprotein-cholesterol; and determination of TCF7L2 gene polymorphism by allele-specific polymerase chain reaction (AS-PCR) were carried out for each subject.
RESULTS: The T allele of the rs7903146 (C/T) SNP was associated with a two-fold higher risk of T2DM and the heterozygous genotype (CT) with a 1.96 times higher risk.
CONCLUSIONS: There is a high association of this SNP with the development of T2DM in the eastern Indian population. Serial monitoring of HbA1c should be done in an individual having this type of polymorphism for early detection of T2DM to prevent future complications.
摘要：
背景：2型糖尿病（T2DM）主要由肌肉功能丧失引起，脂肪，和肝细胞由于胰岛素抵抗或胰腺胰岛素产生不足而吸收葡萄糖。对T2DM的易感性可能是由于环境，世袭,或者两个因素。虽然有许多基因参与导致T2DM，全基因组关联研究(GWAS)中发现的转录因子7-like-2基因(TCF7L2)rs7903146(C/T)单核苷酸多态性(SNP)对T2DM易感。TCF7L2通过Wnt信号机制参与胰腺β细胞增殖和分化。
目的：探讨2型糖尿病患者TCF7L2rs7903146(C/T)基因多态性的遗传关联。
方法：对英迪拉甘地医学科学研究所内分泌科招募的194名T2DM患者进行了病例对照研究，巴特那,和180名年龄和性别与患者相匹配的非糖尿病健康对照。所有临床检查和生化检查，如糖化血红蛋白（HbA1c），总胆固醇,甘油三酯，高密度脂蛋白胆固醇，和低密度脂蛋白胆固醇；并通过等位基因特异性聚合酶链反应（AS-PCR）测定TCF7L2基因多态性。
结果：rs7903146(C/T)SNP的T等位基因与2倍的T2DM风险和1.96倍的杂合基因型(CT)风险相关。
结论：在印度东部人群中，该SNP与T2DM的发展高度相关。应在具有这种类型多态性的个体中进行HbA1c的连续监测，以早期检测T2DM，以预防未来的并发症。
目的：探讨2型糖尿病患者TCF7L2rs7903146(C/T)基因多态性的遗传关联。
方法：对英迪拉甘地医学科学研究所内分泌科招募的194名T2DM患者进行了病例对照研究，巴特那,和180名年龄和性别与患者相匹配的非糖尿病健康对照。所有临床检查和生化检查，如糖化血红蛋白（HbA1c），总胆固醇,甘油三酯，高密度脂蛋白胆固醇，和低密度脂蛋白胆固醇；并通过等位基因特异性聚合酶链反应（AS-PCR）测定TCF7L2基因多态性。
结果：rs7903146(C/T)SNP的T等位基因与2倍的T2DM风险和1.96倍的杂合基因型(CT)风险相关。
结论：在印度东部人群中，该SNP与T2DM的发展高度相关。应在具有这种类型多态性的个体中进行HbA1c的连续监测，以早期检测T2DM，以预防未来的并发症。
