Abstract
Purpose :
Strabismus is a complex oculomotor disorder characterized by the misalignment of visual axis. Depending on the angle of deviation, it is classified into esotropia and exotropia. The pathophysiology of the disease is infancy worldwide. In this study, we investigated the role of previously suggested single nucleotide polymorphisms (SNPs) of WNT2 in manifestation of strabismus in a Pakistani cohort.
Methods :
A total of 315 strabismic and 230 control subjects were recruited for this study. Polymorphisms, rs2896218, rs2285544 and rs3779550, were genotyped after amplification through tetra-primer amplification refractory mutation system-polymerase chain reaction (tetra-ARMS PCR) and visualization by gel electrophoresis. Principle component analysis (PCA) and multiple logistic regression was performed to test association of SNPs with strabismus and its subtypes.
Results :
PCA results show no stratifications of controls group with 1000genome data, while a separate cluster is seen for strabismic group (Figure). Regression analysis revealed no association of any SNP with strabismus group, but subgroup analysis revealed significant association [OR (CI)=0.88 (0.80 - 0.98), p-value=0.01] of rs2896218 and rs2285544 [OR (CI)=0.90 (0.81 -0.99), p-value=0.04] with esotropia.
Conclusions :
Our results suggest that polymorphisms, rs2896218 and rs2285544, are associated with esotropia in Pakistani population, though further studies are needed to elucidate how they are involved in strabismus etiology.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.