PDF(Pubmed)
Abstract：
BACKGROUND: Diabetes mellitus (DM) is one of the leading causes of morbidity and mortality worldwide. It is a multifactorial disease that genetic and environmental factors contribute to its development. The aim of the study was to investigate the association of OX40L promoter gene polymorphisms with type 2 diabetes mellitus (T2DM) in Iranians.
METHODS: Three hundred and sixty-eight subjects including 184 healthy subjects and 184 T2DM patients were enrolled in our study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was applied to detect genotype and allele frequencies of rs3850641, rs1234313 and rs10912580. In addition, SNPStats web tool was applied to estimate haplotype frequency and linkage disequilibrium (LD).
RESULTS: The distribution of tested polymorphisms was statistically different between the T2DM patients and healthy subjects (P < 0.01). rs1234313 AG (OR = 0.375, 95% CI = 0.193-0.727, P = 0.004) and rs10912580 AG (OR = 0.351, 95% CI = 0.162-0.758, P = 0.008) genotypes were associated with the decreased risk of T2DM in Iranians. Moreover, our prediction revealed that AAG (OR = 0.46, 95% CI= (0.28-0.76), P = 0.0028) and GAG (OR = 0.24, 95% CI= (0.13-0.45), P < 0.0001) haplotypes were related to the reduced risk of the disease. However, the tested polymorphisms had no effect on biochemical parameters and body mass index (BMI) in the patient group (P > 0.05).
CONCLUSIONS: Our findings revealed that OX40L promoter gene polymorphisms are associated with T2DM. Moreover, genotype and allelic variations were related to the decreased risk of T2DM in Iranians. Further studies are recommended to show whether these polymorphic variations could affect OX40/OX40L interaction or OX40L phenotype.
METHODS: Three hundred and sixty-eight subjects including 184 healthy subjects and 184 T2DM patients were enrolled in our study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was applied to detect genotype and allele frequencies of rs3850641, rs1234313 and rs10912580. In addition, SNPStats web tool was applied to estimate haplotype frequency and linkage disequilibrium (LD).
RESULTS: The distribution of tested polymorphisms was statistically different between the T2DM patients and healthy subjects (P < 0.01). rs1234313 AG (OR = 0.375, 95% CI = 0.193-0.727, P = 0.004) and rs10912580 AG (OR = 0.351, 95% CI = 0.162-0.758, P = 0.008) genotypes were associated with the decreased risk of T2DM in Iranians. Moreover, our prediction revealed that AAG (OR = 0.46, 95% CI= (0.28-0.76), P = 0.0028) and GAG (OR = 0.24, 95% CI= (0.13-0.45), P < 0.0001) haplotypes were related to the reduced risk of the disease. However, the tested polymorphisms had no effect on biochemical parameters and body mass index (BMI) in the patient group (P > 0.05).
CONCLUSIONS: Our findings revealed that OX40L promoter gene polymorphisms are associated with T2DM. Moreover, genotype and allelic variations were related to the decreased risk of T2DM in Iranians. Further studies are recommended to show whether these polymorphic variations could affect OX40/OX40L interaction or OX40L phenotype.
摘要：
背景：糖尿病（DM）是全球发病率和死亡率的主要原因之一。遗传和环境因素促进其发展是一种多因素疾病。该研究的目的是调查OX40L启动子基因多态性与伊朗人2型糖尿病（T2DM）的相关性。
方法：我们的研究纳入了三百六十八名受试者，其中包括184名健康受试者和184名T2DM患者。应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测rs3850641，rs1234313和rs10912580的基因型和等位基因频率。此外,SNPStats网络工具用于估计单倍型频率和连锁不平衡(LD)。
结果：2型糖尿病患者与健康者的多态性分布差异有统计学意义（P<0.01）。rs1234313AG(OR=0.375,95%CI=0.193-0.727,P=0.004)和rs10912580AG(OR=0.351,95%CI=0.162-0.758,P=0.008)基因型与伊朗人T2DM风险降低相关。此外，我们的预测显示AAG(OR=0.46，95%CI=(0.28-0.76)，P=0.0028)和GAG(OR=0.24，95%CI=(0.13-0.45)，P<0.0001)单倍型与疾病风险降低有关。然而,所检测的多态性对患者组的生化指标和体重指数(BMI)无影响(P>0.05)。
结论：我们的发现揭示OX40L启动子基因多态性与T2DM相关。此外，基因型和等位基因变异与伊朗人T2DM风险降低相关.建议进一步研究显示这些多态性变异是否会影响OX40/OX40L相互作用或OX40L表型。
方法：我们的研究纳入了三百六十八名受试者，其中包括184名健康受试者和184名T2DM患者。应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测rs3850641，rs1234313和rs10912580的基因型和等位基因频率。此外,SNPStats网络工具用于估计单倍型频率和连锁不平衡(LD)。
结果：2型糖尿病患者与健康者的多态性分布差异有统计学意义（P<0.01）。rs1234313AG(OR=0.375,95%CI=0.193-0.727,P=0.004)和rs10912580AG(OR=0.351,95%CI=0.162-0.758,P=0.008)基因型与伊朗人T2DM风险降低相关。此外，我们的预测显示AAG(OR=0.46，95%CI=(0.28-0.76)，P=0.0028)和GAG(OR=0.24，95%CI=(0.13-0.45)，P<0.0001)单倍型与疾病风险降低有关。然而,所检测的多态性对患者组的生化指标和体重指数(BMI)无影响(P>0.05)。
结论：我们的发现揭示OX40L启动子基因多态性与T2DM相关。此外，基因型和等位基因变异与伊朗人T2DM风险降低相关.建议进一步研究显示这些多态性变异是否会影响OX40/OX40L相互作用或OX40L表型。
