Lack of association ofLOXL1gene variants in Japanese patients with central retinal vein occlusion without clinically detectable pseudoexfoliation material deposits

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ABSTRACT.Purpose:A possible association has been reported between exfoliation syndrome (EX) and various ocular and systemic vascular disorders; however, it is unclear if there is an association between EX and central retinal vein occlusion (CRVO). Because latent deposits of exfoliation materials might not be recognized during slit-lamp examination, an ocular biopsy is required to establish a precise diagnosis. We evaluated a possible association between EX and CRVO usinglysyl oxidase-like 1(LOXL1) gene variants as alternative markers for EX.Methods:The allelic and genotypic frequencies of threeLOXL1variants (rs1048661, rs3825942, and rs2165241) were determined in 68 consecutive Japanese patients with CRVO [15 with exfoliation syndrome (EX+) and 53 without exfoliation syndrome (EX−)] and 90 control patients with cataract without EX (CT).Results:The frequencies of the rs1048661 and rs3825942 variants showed borderline difference between the CRVO and CT groups (p = 0.04085 and p = 0.06088, respectively, for allelic frequencies, and p = 0.06838 and p = 0.03482, respectively, for genotypic frequencies). Compared with the CT group, subgroup analysis showed that the CRVO EX+ group had significant differences in the allelic and genotypic frequencies of rs1048661 (p = 0.0006447 and p = 0.0001392, respectively) and had borderline differences in the allelic and genotypic frequencies of rs3825942 (p = 0.03403 and p = 0.07341, respectively), while the CRVO EX− group did not (p = 0.1324–0.6306). Subgroup analysis showed that the frequencies of rs2165241 did not differ between the CRVO and CT groups.Conclusions:When theLOXL1variants were used as disease markers for clinically undetectable EX, there was no association between CRVO and EX. The results suggested that theLOXL1variants, which are well-established markers for EX, are not likely genetic markers for CRVO in Japanese subjects.

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