Analysis of SMOC2 gene variants in familial and nonfamilial primary open angle glaucoma Pakistani patients  

作　　者：Ashok Kumar Narsani Feriha Fatima Khidri Muhammad Rafiq Jalpa Bai Hina Shaikh Yar Muhammad Waryah Syed Habib Ahmed Naqvi Preety Kumari Mahesh Kumar Lohano Ali Muhammad Waryah 

机构地区：[1]Institute of Biotechnology&Genetic Engineering,University of Sindh,Jamshoro 76090,Pakistan [2]Institute of Ophthalmology,Liaquat University of Medical and Health Sciences Jamshoro,Jamshoro 76090,Pakistan [3]Department of Biochemistry,Bilawal Medical College,Liaquat University of Medical and Health Sciences,Jamshoro 76090,Pakistan [4]Molecular Biology and Genetics Department,Liaquat University of Medical and Health Sciences,Jamshoro 76090,Pakistan [5]Sindh Institute of Ophthalmology&Visual Sciences Hyderabad,Sindh 71000,Pakistan [6]Department of Bio Sciences,COMSATS University Islamabad 45550,Pakistan

出　　处：《International Journal of Ophthalmology(English edition)》2024年第12期2185-2191,共7页国际眼科杂志（英文版）

基　　金：Supported by Higher Education Commission of Pakistan(NRPU#2835);Pakistan Science Foundation Project No.Biotech 101,funded to Professor Dr.Ali Muhammad Waryah.

摘　　要：AIM:To find out the association of secreted protein acidic and rich in cysteine(SPARC)-related modular calcium binding 2(SMOC2)gene variants rs2255680 and rs13208776 with genotypic and phenotypic characteristics in both familial and non-familial primary open angle glaucoma(POAG)patients.METHODS:A total of 212 POAG patients,comprising 124 familial and 88 non-familial,were enrolled.For genotyping the SMOC2 variant rs2255680,amplification refractory mutation system(ARMS)-polymerase chain reaction(PCR)method and PCR-restriction fragment length polymorphism(PCR-RFLP)were utilized for analyzing rs13208776 variant.RESULTS:The mean age of familial POAG patients was 50.92±9.12y,with 78 males and 46 females.The mean age of non-familial POAG patients was 53.14±13.44y,with 52 males and 36 females.The SMOC2 gene variant rs13208776 showed the significant association with POAG between familial and non-familial groups.The homozygous G/G variant was frequent among non-familial(60.2%)whereas the heterozygous G/A variant was more frequent in familial POAG patients(46%).There were significant differences in G/A variant between familial and non-familial glaucoma patients,and the risk was decreased to 0.53-fold in non-familial glaucoma patients[odds ratio(OR):0.53;95%confidence interval(CI):0.29-0.94;P=0.033]in codominant model.The risk was further reduced to 0.49-fold(95%CI:0.28-0.86;P=0.012)in dominant model for non-familial patients.No significant association of SMOC2 gene variant rs2255680 between familial and non-familial glaucoma patients was found in our population.The haplotype analysis showed the decreased risk for TA[OR:0.48(95%CI:0.29-0.79);P=0.004]and an increased risk for TG[OR=2.28(95%CI:1.22-4.25);P=0.01]haplotypes.CONCLUSION:Current findings show significant association of SMOC2 gene variant rs13208776 with POAG between familial and non-familial Pakistani patients.

关 键 词：GLAUCOMA primary open angle glaucoma SMOC2 GENE VARIANT FAMILIAL non-familial 

分 类 号：R775.2[医药卫生—眼科]