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Objective To investigate the correlation between the single nucleotide polymorphisms (SNPs) of rs3811951 at proprotein convertase subtilisin/kexin type 1 (PCSK1) and rs2021785 at PCSK2 gene and the genetic predisposition to newly diagnosed type 2 diabetes (T2DM) in Han population in Chongqing district. Methods A case-control study was performed in Han Chinese subjects with 152 cases of normal control and 227 cases of T2DM patients. Clinical data and blood samples were collected, blood glucose, lipids and other biochemical indexes were determined, and the SNPs of rs3811951 and rs2021785 were genotyped by matrix assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). Results The minor allele frequency of rs2021785 at PCSK2 was significantly lower in T2DM group than in control group (20.04% vs 26.64%, P=0.0335), and carriers of A allele showed a lower risk of suffering T2DM (OR=0.69, 95%CI 0.49-0.97, P=0.0335). The AA genotype frequency of rs2021785 at PCSK2 was significantly lower in T2DM group than in control group (6.6% vs 10.5%, P0.05). Conclusion SNP of rs2021785 at PCSK2 is significantly associated with T2DM in Han population in Chongqing district, however, there is no significant association between SNP of rs3811951 at PCSK1 and T2DM. DOI: 10.11855/j.issn.0577-7402.2014.12.07

Objective To investigate the correlation between single nucleotide polymorphisms(SNPs) of rs7903146 and rs11196218 at TCF7L2 gene and the early phase insulin secretion of newly diagnosed patients with type 2 diabetes mellitus(T2DM).Methods A case-control study was conducted in 227 newly diagnosed patients with T2DM(T2DM group) and 152 normal people(control group) from Chongqing area.SNPs of rs7903146 and rs11196218 were genotyped by matrix assisted laser desorption/ionization time-of-flight mass spectrometry(MALDI-TOF MS).Results The minor allele frequencies(MAF) of rs7903146 in T2DM and control group were 5.73% and 4.28%,respectively,with no significant difference.Logistic regression analysis revealed that the SNPs of rs7903146 and rs11196218 were negatively associated with T2DM no matter with additive,dominant or recessive models(P > 0.05).The SNPs of rs7903146 were associated with ΔI30/ΔG30(OR=1.012,95%CI 1.000-1.025,P=0.05),the levels of ΔI30/ΔG30 in T-allele carriers were significantly higher than that in normal allele carriers(P=0.0385).Conclusion There is no significant correlation between SNPs of rs7903146 and rs11196218 at TCF7L2 gene and newly diagnosed T2DM,but SNPs of rs7903146 may associate with the early phase insulin secretion.