SHROOM3多态性与我国西南汉族人肾小球滤过率及终末期肾病的相关性研究

The association between the variation of SHROOM3 and renal function or end stage renal disease in a Han population in Southwest China

目的既往研究表明SHROOM3基因rs17319721多态性与西文人群肾小球滤过率(glovne-lular filtration rate,eGFR)相关。本研究目的是分析该多态性与中国西南汉族人群eGFR及终末期肾脏病(ESRD)发生的关系。方法纳入731健康(无肾脏疾病,高血压,糖尿病,eGFR>60ml/min/1.73m2)成年人及403例终末期肾脏病患者作为研究对象。采用ABI公司Taqman探针,用定量PCR仪对rs17319721进行基因分型。分析该多态性与eGFR及ESRD的相关性。结果尽管3种不同基因型的正常个体(AA,AG和GG)之间eGFR无明显差异[(88.2±24.2)ml/min,(99.1±18.3)ml/min,(100.8±18.6)ml/min,P=0.136],但是AA基因型个体的eGFR要更低。该多态性不同等位基因及不同基因型频率在正常对照与ESRD患者之间也无明显差异。Logistic回归分析也显示该多态性位点与健康个体的肾功能,以及与ESRD发生之间无明显相关性。结论我们对中国西南汉族人群的研究发现,SHROOM3基因AA基因型个体eGFR稍低,但是没有显示其与肾功能或ESRD发生有明显的相关性。

Objective Glomerular filtration rate（GFR）,a complex trait,was influenced by genetic factors.It was demonstrated that single nucleotide polymorphism（SNP）rs17319721 of SHROOM3 was associated with eGFR in an American population.The present study was designed to investigate the association between rs17319721 and eGFR or end stage renal disease（ESRD）in a Han population in Southwest China.Methods We conducted a association study of total 1134 individuals（732 healthy controls and 403 patients with ESRD）.A TaqMan probe of rs17319721 was used for genotypting.Results There was no obvious association between the rs17319721 and eGFR or end stage renal disease（ESRD）.But the patients with AA genotype had lower eGFR than other two kinds of genotypes（88.2±4.2ml/min,99.1±8.3ml/min,100.8±8.6 ml/min,P=0.136）.Conclusions Our results suggested that the individuals with AA genotype of rs17319721 in SHROOM3 gene had lower eGFR.But the SNP of SHROOM3 gene wasn＇t associated significantly with eGFR or ESRD in a Han population in Southwest China.