Connective tissue growth factor (CTGF) has been implicated in the pathogenesis of diabetic nephropathy; however, to date there have been no reports of genomic analysis on this gene. The CTGF gene was comprehensively screened using WAVE (dHPLC) technology and direct capillary sequencing. Single nucleotide polymorphisms (SNPs) with minor allele frequencies greater than 5% were further investigated in an Irish, type 1 diabetic population. The case-control collection consisted of 272 diabetics with nephropathy and 367 non-nephropathic diabetic controls who were genotyped using TaqMan and Pyrosequencing technologies. Ten SNPs were identified, of which seven were novel. Four SNPs are located in the promoter, one in exon 2, two in intron 2 and three in the 3' untranslated region. Based on in silico analysis, three SNPs, c.-650G>C, c.-484T>C and c.247G>C, are potentially functional. Subsequent statistical analysis for common SNPs, c.-650G>C, c.-420InsT, c.-220G>C, c.289+94T>C and c.289+98T>C, in the case-control study revealed no significant differences in genotype or allele frequencies. CTGF has emerged as a biological candidate gene for diabetic nephropathy; however, no significant association was detected between common CTGF SNPs and nephropathy in this population.

中文翻译：

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对已表征的CTGF基因进行重测序以鉴定新的或已知的变体，并分析其与糖尿病性肾病的相关性。

结缔组织生长因子（CTGF）与糖尿病性肾病的发病机制有关。然而，迄今为止，尚无对该基因进行基因组分析的报道。使用WAVE（dHPLC）技术和直接毛细管测序对CTGF基因进行了全面筛选。在爱尔兰的1型糖尿病人群中，进一步研究了具有较小等位基因频率大于5％的单核苷酸多态性（SNP）。病例对照集合由272名患有肾病的糖尿病患者和367名使用TaqMan和焦磷酸测序技术进行基因分型的非肾病性糖尿病对照组成。确定了十个SNP，其中七个是新颖的。四个SNP位于启动子中，一个位于外显子2中，两个位于内含子2中，三个位于3'非翻译区。根据计算机分析，三个SNP，即c.-650G> C，c.-484T> C和c.247G> C可能具有功能。在病例对照研究中，对常见SNPs.c.-650G> C，c.-420InsT，c.-220G> C，c.289 + 94T> C和c.289 + 98T> C的后续统计分析表明没有基因型或等位基因频率的显着差异。CTGF已经成为糖尿病性肾病的生物学候选基因。但是，该人群中常见的CTGF SNP与肾病之间未发现显着关联。