Study Of Association Between Four Gene Polymorphism And Retinitis Pigmentosa

Retinitis pigmentosa (Retinitis Pigmentosa RP) is a serious genetic blindnessdisease, earlier onset age; ratio of men to women is1.03:1. The world about1500000patients suffering from these disease, the incidence rate is about1/4000, whichChinese accounted for about1/4, and showed a rising trend year by year. At present,the pathogenesis of retinitis pigmentosa is not clear, with the development ofmolecular biology, studies have found that molecular markers of retinitis pigmentosa.Among them SAG, TULP1, RDS, PRPF31gene as a marker of biological retinitispigmentosa, relationship with retinitis pigmentosa has become a research hotspot inthe field of molecular genetics.ObjectiveWe aimed to explore the association of SAG, TULP1, RDS, PRPF31genepolymorphism with retinitis pigmentosa, and provide evidence for etiology researchof retinitis pigmentosa.MethodsA case-control design was selected.105retinitis pigmentosa patients wererecruited, and109healthy individuals free of retinitis pigmentosa were recruited ascontrol subjects. The control subjects were matched with cases by age and gender.Genomic DNA was extracted from peripheral blood lymphocytes of each subject byusing ClotBlood DNA Kit. Genetic polymorphisms of the SNPs were genotypedusing MALDI-TOF-MS. Demographic and clinical data of subjects were collectedusing self-designed questionnaire. Epidata3.1was used in data entry. SPSS21.0andSNPStats were used in statistical analysis.Results1.Among105retinitis pigmentosa patients,there were53males (50.5%),52female (49.5%), and male to female ratio was1.02:1; where the minimum age was5yearsold, the maximum was64years old, with an average age of35.83±12.543years old.2. There were no significant difference in age and gender distribution between casesand controls（Gender：χ2=0.071，P=0.790；Age：t=0.267，P=0.790）. All SNPsof two groups were in accordance with Hardy-Weinberg equilibrium (P>0.05).3. For TULP1gene rs2064318, allele frequency distributions between two groupswere statistically different（χ2=4.943，P=0.026）; genotype frequency distributions,under dominant mode of inheritance, between two groups were statistically different（P=0.024; ORCC/GC-GG=0.510(95%CI=0.280-0.920)）4. For TULP1gene rs9380516, allele frequency distributions between two groupswere statistically different （χ2=4.517，P=0.034）; genotype frequency distributions,under dominant mode of inheritance, between two groups were statistically different（P=0.031; ORCC/CT-TT=0.530(95%CI=0.290-0.950)）5.No significant difference of allele and genotype frequency distributions wasobtained between different subgroups patients and controls for SAG geners1046974、RDS gene rs434102and PRPF31gene rs460824(P>0.05)6. SAG gene rs1046974and PRPF31gene rs460824have a interaction with Ediblefish food（P=0.020，P=0.017）,No significant interaction was obtained between otherenvironmental risk factors and SNPs (TULP1gene rs2064318and rs9380516, RDSgene rs434102)(P>0.05).Conclusion1. SAG gene rs1046974、 RDS gene rs434102and PRPF31gene rs460824polymorphisms were not associated with retinitis pigmentosa;2. TULP1gene rs2064318and rs9380516polymorphism was associated withretinitis pigmentosa；3.SAG gene rs1046974（G→A）and PRPF31gene rs460824（C→T）with high Ediblefish food intake may have a synergistic effect in retinitis pigmentosa mechanisms.