Clinical Epidemiology Unit, Qilu Hospital of Shandong University, Jinan, Shandong, P. R. China.
MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai, P. R. China ; CMC Institute of Health Sciences, Taizhou, Jiangsu, P. R. China.
PLoS One. 2013 Dec 20;8(12):e83059. doi: 10.1371/journal.pone.0083059. eCollection 2013.
To investigate the association of Mannose-binding lectin (MBL) and the MBL2 gene with type 2 diabetes and diabetic nephropathy and the influence of MBL2 polymorphisms on serum MBL levels.
The study population included 675 type 2 diabetic patients with or without nephropathy and 855 normoglycemic controls. The single nucleotide polymorphisms (SNPs) of rs1800450, rs1800451, and rs11003125 of the MBL2 gene were determined by the Multiplex Snapshot method. Serum MBL levels were measured by enzyme-linked immune sorbent assay.
Rs1800450 and rs11003125 SNPs demonstrated strong linkage disequilibrium in the study population (r(2) = 0.97). The haplotypes constructed from the G allele of rs1800450 and the C allele of rs11003125 increased the risk for type 2 diabetes (OR = 1.2, 95% CI = 1.1-1.4, P = 0.01). For rs1800450, GG and GA genotypes were associated with type 2 diabetes (P = 0.02, 0.01, respectively). For rs11003125, the GC genotype frequency was significantly different between patients and controls (18.1% vs. 24.9%, P = 0.001). Analyses of genotypes and allele frequency distributions among patients with normal UAE, microalbuminuria, and macroalbuminuria showed that there was no obvious evidence of association between the MBL2 gene and diabetic nephropathy. Subjects with the GG genotype of rs1800450 and the CC genotype of rs11003125 had much higher serum MBL levels.
The rs1800450 and rs11003125 SNPs of the MBL2 gene have strong linkage disequilibrium and are associated with type 2 diabetes in the North Chinese Han population. No association was observed between the MBL2 gene and diabetic nephropathy. Subjects with the GG genotype of rs1800450 and the CC genotype of rs11003125 had much higher serum MBL levels. An association between elevated serum MBL and diabetic nephropathy was also observed.
探讨甘露聚糖结合凝集素(MBL)和 MBL2 基因与 2 型糖尿病及糖尿病肾病的关系,以及 MBL2 基因多态性对血清 MBL 水平的影响。
研究人群包括 675 例有或无肾病的 2 型糖尿病患者和 855 例血糖正常的对照者。采用多重单核苷酸多态性基因分型技术检测 MBL2 基因 rs1800450、rs1800451 和 rs11003125 单核苷酸多态性。采用酶联免疫吸附试验测定血清 MBL 水平。
rs1800450 和 rs11003125 单核苷酸多态性在研究人群中具有很强的连锁不平衡(r(2) = 0.97)。由 rs1800450 的 G 等位基因和 rs11003125 的 C 等位基因组成的单倍型增加了 2 型糖尿病的风险(OR = 1.2,95%CI = 1.1-1.4,P = 0.01)。对于 rs1800450,GG 和 GA 基因型与 2 型糖尿病相关(P = 0.02、0.01)。对于 rs11003125,患者和对照组的 GC 基因型频率差异有统计学意义(18.1%比 24.9%,P = 0.001)。对 UAE 正常、微量白蛋白尿和大量白蛋白尿的患者进行基因型和等位基因频率分布分析,未发现 MBL2 基因与糖尿病肾病有明显关联。rs1800450 的 GG 基因型和 rs11003125 的 CC 基因型的个体血清 MBL 水平明显较高。
MBL2 基因的 rs1800450 和 rs11003125 单核苷酸多态性在华北汉族人群中具有很强的连锁不平衡,与 2 型糖尿病相关。MBL2 基因与糖尿病肾病无关联。rs1800450 的 GG 基因型和 rs11003125 的 CC 基因型的个体血清 MBL 水平明显较高。血清 MBL 水平升高与糖尿病肾病也有相关性。