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[Study on single nucleotide polymorphism of TIGR gene in primary open-angle glaucoma patients].
Zhonghua Yi Xue Za Zhi. 2002 Jun 10; 82(11):743-7.ZY

Abstract

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.

CONCLUSION

The T353I polymorphism of TIGR gene is associated with POAG in Chinese Han population.

Authors+Show Affiliations

Fan B
Department of Epidemiology and Biostatistics, Southeast University, Nanjing, China.
Liang X
No affiliation info available
Peng Z
No affiliation info available
Dong X
No affiliation info available
Liu Y
No affiliation info available
Luan J
No affiliation info available
Wang N
No affiliation info available

MeSH

AgedAllelesBase SequenceCytoskeletal ProteinsDNADNA Mutational AnalysisEye ProteinsFemaleGene FrequencyGenotypeGlaucoma, Open-AngleGlycoproteinsHumansIntraocular PressureMaleMiddle AgedMutationPolymorphism, Single Nucleotide

Pub Type(s)

English Abstract
Journal Article

Language

chi

PubMed ID

12126543

Citation

Fan, Baojian, et al. "[Study On Single Nucleotide Polymorphism of TIGR Gene in Primary Open-angle Glaucoma Patients]." Zhonghua Yi Xue Za Zhi, vol. 82, no. 11, 2002, pp. 743-7.
Fan B, Liang X, Peng Z, et al. [Study on single nucleotide polymorphism of TIGR gene in primary open-angle glaucoma patients]. Zhonghua Yi Xue Za Zhi. 2002;82(11):743-7.
Fan, B., Liang, X., Peng, Z., Dong, X., Liu, Y., Luan, J., & Wang, N. (2002). [Study on single nucleotide polymorphism of TIGR gene in primary open-angle glaucoma patients]. Zhonghua Yi Xue Za Zhi, 82(11), 743-7.
Fan B, et al. [Study On Single Nucleotide Polymorphism of TIGR Gene in Primary Open-angle Glaucoma Patients]. Zhonghua Yi Xue Za Zhi. 2002 Jun 10;82(11):743-7. PubMed PMID: 12126543.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Study on single nucleotide polymorphism of TIGR gene in primary open-angle glaucoma patients]. AU - Fan,Baojian, AU - Liang,Xuhui, AU - Peng,Zhipei, AU - Dong,Xiaomei, AU - Liu,Yao, AU - Luan,Jie, AU - Wang,Ning, PY - 2002/7/20/pubmed PY - 2002/8/30/medline PY - 2002/7/20/entrez SP - 743 EP - 7 JF - Zhonghua yi xue za zhi JO - Zhonghua Yi Xue Za Zhi VL - 82 IS - 11 N2 - 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. CONCLUSION: The T353I polymorphism of TIGR gene is associated with POAG in Chinese Han population. SN - 0376-2491 UR - https://www.unboundmedicine.com/medline/citation/12126543/[Study_on_single_nucleotide_polymorphism_of_TIGR_gene_in_primary_open_angle_glaucoma_patients]_ DB - PRIME DP - Unbound Medicine ER -