Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy?
Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy?
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C1GALT1C1基因突变在中国人IgA肾病遗传易感性中是否发挥重要作用？
DOI：
10.1186/1471-2350-10-101
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发表时间：
2009-09-24
影响因子：
--
通讯作者：
Wang HY
中科院分区：
文献类型：
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作者：
Li GS;Nie GJ;Zhang H;LV JC;Shen Y;Wang HY
IgA 1分子铰链区β 1，3半乳糖缺陷在伊加肾病（IgAN）的发病中起着重要作用。Cosmc基因编码的C1 GALT 1C 1蛋白是IgA 1 β 1，3半乳糖基化所必需的。我们设计了一个系列研究，以探讨C1 GALT 1C 1基因突变与IgA肾病遗传易感性的关系。938名受试者，包括661名IgAN患者和277名健康对照者入组本研究。首先，筛选C1 GALT 1C 1基因启动子区的单核苷酸多态性（SNPs）。然后是C。采用PCR-RFLP方法对347- 190 G>A基因进行分析，以进一步进行病例对照关联分析。其次，检测了15例患者和7例正常人外周血B淋巴细胞DNA的体细胞突变。未观察到c.-的不同等位基因或基因型之间的显著关联。347- 190 G>A和IgAN。C1 GALT 1C 1基因不同基因型与IgAN患者的血尿、蛋白尿、血肌酐等临床表现无明显相关性。在22个个体的202个克隆中未检测到体细胞突变。C. C1 GALT 1C 1基因347- 190 G>A多态性和编码区体细胞突变与中国北方人群IgA肾病的遗传易感性无关。
The deficiency of β1,3 galactose in hinge region of IgA1 molecule played a pivotal role in pathogenesis of IgA nephropathy (IgAN). Cosmc, encoded by C1GALT1C1 gene, was indispensable to β1,3 galactosylation of IgA1. We designed a serial study to investigate the relationship between the mutations of C1GALT1C1 gene and the genetic susceptibility to IgAN. Nine hundred and thirty-eight subjects, including 661 patients with IgAN and 277 healthy controls were enrolled in the study. Firstly, single nucleotide polymorphisms (SNPs) in the promoter region of C1GALT1C1 gene were screened. Then the c.-347-190G>A was analyzed by PCR-restriction fragment length polymorphism (PCR-RFLP) for further case-control association analysis. Secondly the somatic mutations of DNAs from peripheral blood B lymphocytes were detected in 15 patients and 7 normal controls. No significant association was observed between the different alleles or genotypes of c.-347-190G>A and IgAN. The patients with different genotypes of C1GALT1C1 gene did not significantly associate with clinical manifestations, including hematuria, proteinuria, and serum creatinine of patients with IgAN. There was no somatic mutation detected in total 202 clones of 22 individuals. The c.-347-190G>A polymorphism and the somatic mutation of encoding region of C1GALT1C1 gene were not significantly related to the genetic susceptibility to IgAN in Northern Chinese population.