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.

Figure 1

The haplotype block structure and the position of the studied tag single nucleotide polymorphisms of CALCRL. The relative physical position of each tag single nucleotide polymorphism (SNP) is given together with the rs number in the upper part of the diagram. Pair-wise SNP D’ values (multiply by 100) of linkage are shown together with two identified haplotype blocks. The bright red rectangles represent D’=100 (multiply by 100).