Dataset Information

Investigation of the association between CALCRL polymorphisms and primary angle closure glaucoma.

ABSTRACT: PURPOSE: To determine whether the polymorphisms of calcitonin receptor-like receptor gene (CALCRL) are associated with primary angle closure glaucoma (PACG) in a southern Chinese population. METHODS: A total of 207 individuals with acute and chronic PACG and 205 ethnically matched controls were recruited in the current study. A tag-single nucleotide polymorphism approach was used to investigate this gene. Alleles were determined by PCR restriction fragment length polymorphism. RESULTS: The results show a nominal association between rs1157699 and acute PACG (uncorrected p=0.024 and 0.028 for alleles and genotypes, respectively). Haplotype T(rs840617)C(rs6759535)T(rs1157699) frequency is significantly higher in acute PACG patients than in controls (corrected p=0.012), whereas haplotype T(rs840617)C(rs6759535)C(rs1157699) frequency is significantly lower in acute PACG patients compared with controls (corrected p=0.02). However, no significant difference was detected between chronic PACG and CALCRL tag single nucleotide polymorphisms. CONCLUSIONS: The study suggests a possible role of CALCRL in the pathogenesis of acute PACG but not chronic PACG. A replication of this study with a larger sample size as well as on different populations will be helpful in confirming this finding.

SUBMITTER: Cao D

PROVIDER: S-EPMC2773738 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature

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Investigation of the association between CALCRL polymorphisms and primary angle closure glaucoma.

Cao Dan D Liu Xing X Guo Xiangming X Cong Yanhong Y Huang Jingjing J Mao Zhen Z

Molecular vision 20091027

<h4>Purpose</h4>To determine whether the polymorphisms of calcitonin receptor-like receptor gene (CALCRL) are associated with primary angle closure glaucoma (PACG) in a southern Chinese population.<h4>Methods</h4>A total of 207 individuals with acute and chronic PACG and 205 ethnically matched controls were recruited in the current study. A tag-single nucleotide polymorphism approach was used to investigate this gene. Alleles were determined by PCR restriction fragment length polymorphism.<h4>Re ...[more]

PMID: 19898635

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Project description:PurposePLEKHA7 and COL11A1 were genotyped for single-nucleotide polymorphisms (SNPs) to investigate the possible association of these two genes with primary angle-closure glaucoma (PACG) and disease severity.MethodA total of 51 PACG cases and 51 normal controls were recruited. Twelve SNPs in the PLEKHA7 (rs216489, rs1027617, rs366590, rs11024060, rs6486330, rs11024097, and rs11024102) and COL11A1 (rs1676484, rs3753841, rs12138977, rs2126642, and rs2622848) genes were genotyped by direct Sanger sequencing. Distributions of allele frequencies and genotype frequencies in cases and controls, as well as in mild, moderate, and severe subgroups, were compared based on mean defect (MD ≤ 6.00 dB, 6 dB < MD ≤ 12 dB, and MD > 12 dB were considered mild, moderate, and severe, respectively). Independent Student's t-tests and chi-square tests were used to compare characteristics of PACG cases and controls. Chi-square tests were used to compare the distribution of allele frequencies in cases and controls and in MD-based subgroups with various degrees of glaucoma severity. Binary logistic regression was used to compare the distribution of genotype frequencies and calculate odds ratios (OR) with confidence intervals (CI).ResultThree of the 12 SNPs in COL11A1, rs1676486 (P=0.026, OR = 2.089, 95% CI = 1.092-3.996), rs3753841 (P=0.036, OR = 1.886, 95% CI = 1.038-3.426), and rs12138977 (P=0.024, OR = 2.133, 95% CI = 1.104-4.123) were found to have a significant association with PACG. Furthermore, in the subgroup analysis, rs1676486 (P=0.018, OR = 2.416, 95% CI = 1.284-4.544; P=0.011, OR = 2.119, 95% CI = 1.204-3.729), rs12138977 (P=0.009, OR = 2.158, 95% CI = 1.287-3.618; P=0.006, OR = 1.962, 95% CI = 1.239-3.106), and rs3753841 (P=0.007, OR = 2.550, 95% CI = 1.344-4.839) showed statistically significant differences between moderate/severe groups and controls.ConclusionOur data suggested that COL11A1 rs1676484, rs3753841, and rs12138977 polymorphisms may be of value for further study as potential gene-dependent risk factors for developing PACG. Moreover, COL11A1 rs1676484 and rs12138977 polymorphisms might be associated with PACG disease severity.

Dataset Information

Investigation of the association between CALCRL polymorphisms and primary angle closure glaucoma.

Publications

Investigation of the association between CALCRL polymorphisms and primary angle closure glaucoma.

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