Association Between TIM-1 Gene Polymorphisms And Primary Nephrome Syndrome In Children

Objective To assess the genetic association between the TIM-1 gene exon4 ins/del polymorphism and promoter region of -1454G/A single nucleotide polymorphisms with PNS in children.Methods A case–control study was performed in57 PNS patients and 144 healthy controls. The patients with PNS were in line with Chinese Medical Science Branch moment of nephrology group developed the diagnostic criteria in 2008,Genomic DNA was extracted from the peripheral leukocytes of 57patients with PNS and 144 normal children by classical phenol-chloroform. We recorded 57 cases of PNS gment length polymorphism analysis (PCR-RFLP), polymerase chain reaction-polyacrylamide gel electrophoresis (PCR-PAGE) and gene sequencing technology to calculate genotype and allele frequencies analysis of genetic polymorphism in the PNS and control groups and the relationship between the various clinical manifestations and result of glucocorticoids treatment of the children with PNS.Results 1.The genotype frequencies of G/G,G/A,A/A in the TIM-1 -1454G/A region were 0.608,0.328,0.064 in healthy children and 0.772,0.228,0.0 in children with PNS. There was significant difference in genotype frequencies between patients and control,(χ~2=6.561,P=0.038).Carriers of the -1454G single-nucleotide polymorphism (SNP) were increased among PNS patients as compared with controls.(OR = 2.295,95% CI = 1.199～4.390,P=0.011).The genotype frequencies of del/del,del/ins and ins/ins in the TIM-1 exon 4 ins/del region were 0.611,0.34,0.049 in healthy children and 0.579,0.368,0.053 in children with PNS. There was no significant differences in genotype distribution between patients and controls (χ~2=0.176,P =0.916) .2. No significant differences were found in allele or genotype distribution difference between TIM-1 promoter-1454G/A,exon 4 ins/del polymorphism in PNS patients with clinical sub-types(P>0.05).3. Compared with the SS group,no significant differences were found in allele or genotype distribution in the Non-SS group,SR and SD group with TIM-1 promoter-1454G/A,exon 4 ins/del polymorphism.Conclusion The carrying TIM-1 gene promoter -1454G allele with an increased risk to the development of PNS. TIM-1 -1454G/A SNP might be associated with susceptibility to the development of PNS,but the clinical manifestations type and result of glucocorticoids treatment of the children with PNS were no significant associated with TIM-1 promoter-1454G/A,exon 4 ins/del polymorphism.