Association between serum level and exon gene polymorphism of complement C3 and primary open angle glaucoma / 中华检验医学杂志

ABSTRACT

Objective In order to explore the association between complement C3 and primary open angle glaucoma (POAG),the serum complement C3 level was detected and the polymorphism of the C3 exon gene was analyzed in patients with POAG.Methods A prospective case-control study was designed.A total of 45 patients with POAG visiting Eye &ENT hospital of Fudan University were collected from December 2014 to December 2015,and 45 age-/gender-matched healthy subjects from yearly health screening were collected as normal controls.Serum C3 concentration was detected by immunoturbidimetric assay.Meanwhile,genomic DNA was extracted from peripheral blood leukocytes,and sequencing for C3 exons was followed with PCR to analyze the gene polymorphism.Statistical analysis was performed by use of SPSS 20.0 software.Student's t test was used to evaluate the difference of serum C3 level between two groups.Chisquare test was used to analyze the difference in the distribution of C3 exon gene polymorphism between two groups.The one-way ANOVA was utilized to analyze the difference of serum C3 level among different genotypes of C3 exon.Results The serum level of C3 in POAG (104.81 ± 29.15)mg/dl was significantly lower (t =-3.162,P =0.002) compared to controls (121.06 ± 18.39) mg/dl.There were a total of seven single nucleotide polymorphisms (SNPs) (rs2230201,rs2230204,rs2230205,rs428453,rs423490rs7951,rs539822147) within the C3 exon gene region,but no mutation was detected.There was no difference in the frequency and distribution of these SNPs between POAG and controls,as well as,there was also no significant difference in serum C3 level among these SNPs genotypes.Conclusions Decreased serum C3 level in POAG patients indicated that complement C3 might be involved in the pathomechanism of glaucoma.No significant abnormality of C3 exon gene was detected,so the gene polymorphism having an impact on serum C3 level could be excluded as a reason probably.