[Study on single nucleotide polymorphism of TIGR gene in primary open-angle glaucoma patients].
OBJECTIVE
To detect the single nucleotide polymorphism (SNP) of trabecular meshwork-induced glucocorticoid response protein (TIGR) gene and to investigate the association between SNP and primary open-angle glaucoma (POAG) in Chinese Han population.


METHODS
High throughput conformation sensitive gel electrophoresis (HTCSGE) and fluorescent labeling automated sequencing method were used to screen and identify the SNPs of TIGR in 82 unrelated patients with POAG. Restriction endonuclease analysis was used to detect the SNPs of TIGR in 150 sex-and age-matched unrelated control subjects without POAG. The frequencies of genotypes and alleles of each SNP between the two groups were compared by chi-square test.


RESULTS
A total of six SNPs were identified in TIGR gene with a length of 2172 bp, including all coding regions and part of promoter, introns and 3'UTR region: 1-83(G --> A), G12R, R46X, R76K, IVS2 + 35(A --> G), and T353I. Significant differences were found in frequencies of the genotype TC and the allele T of T353I between POAG patients and control subjects. The frequency of heterozygote TC was 12.20% in POAG patients, significantly higher than that in control subjects (3.33%, kappa(2) = 6.885, P = 0.009, OR = 4.028, OR95% CI = 1.327 approximately 12.223). The frequency of the allele T was 6.10% in POAG patients, significantly higher than that in control subjects (1.67%, kappa(2) = 6.655, P = 0.010). No significant difference was found between the two groups in frequencies of genotypes and alleles of the other SNPs.


CONCLUSIONS
The T353I polymorphism of TIGR gene is associated with POAG in Chinese Han population.
Department of Epidemiology and Biostatistics, Southeast University, Nanjing, China.
Baojian
B
Fan
Xuhui
X
Liang
Zhipei
Z
Peng
Xiaomei
X
Dong
Yao
Y
Liu
Jie
J
Luan
Ning
N
Wang
D000368:Aged; D000483:Alleles; D001483:Base Sequence; D003598:Cytoskeletal Proteins; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure / Q000502:physiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D000099179:Myocilin
D003598:Cytoskeletal Proteins; D004247:DNA; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin