The association of ARR3 genetic polymorphisms with pathologic myopia in Northern Chinese population

The study is conducted to illustrate the relationship between the single nucleotide polymorphisms (SNPs) of ARR3 and pathologic myopia (PM) among the general public residing in Northern China.

PM patients and the emmetropic controls were recruited in Northern China. The venous blood samples of subjects were collected, following which DNA were extracted. Seven SNPs of the ARR3 gene, including rs10449043, rs11094147, rs1572732, rs1768567, rs3818861, rs4844220, and rs5936872, were genotyped by the iPLEX Gold Genotyping Assay. The SHEsis platform was employed to evaluate linkage disequilibrium and haplotype blocks, and the SPSS software was used to assess correlations.

There were 575 PM patients and 742 age-matched controls being enrolled in the study. No statistical significance was identified on the relationship between ARR3 SNPs and PM. Results of subgroup analyses based on the degree of chorioretinal atrophy indicated that compared with the heterozygote TC in rs1768567, the homozygotes TT and CC significantly protected the aggravation of female PM from the tessellated fundus to the diffuse chorioretinal atrophy. Although there existed the strong linkage disequilibrium among tested SNPs, 4 major haplotypes of them were not related to the onset and severity of PM.

The study has emphasized the significance of ARR3 SNPs in the progression of chorioretinal atrophy in female PM.

The study was retrospectively registered in the clinicaltrials.gov (identifier: NCT06204211).