Association between single nucleotide polymorphisms of pcsk1 and pcsk2 gene and newly diagnosed type 2 diabetes / 解放军医学杂志

ABSTRACT

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.