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Commonly occurring genetic polymorphisms with a major impact on the risk of nonsyndromic strabismus: replication in a sample from Finland

Plotnikov, Denis, Pärssinen, Olavi, Williams, Cathy, Atan, Denize and Guggenheim, Jeremy A. ORCID: https://orcid.org/0000-0001-5164-340X 2022. Commonly occurring genetic polymorphisms with a major impact on the risk of nonsyndromic strabismus: replication in a sample from Finland. Journal of AAPOS 26 (1) , 12.E1-12.E6. 10.1016/j.jaapos.2021.07.015

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Abstract

Purpose To replicate associations between polymorphisms in the WRB and TSPAN10 genes and strabismus in an independent Finnish cohort and to calculate their population attributable risk. Methods Polymorphisms in the WRB (rs2244352) and TSPAN10 (rs6420484) genes were investigated in individuals from the FinnGen study group who had one of three categories of strabismus, with clinical diagnoses of (1) “strabismus—all subtypes” (3,515 cases and 173,384 controls), (2) “convergent concomitant strabismus” (ICD-10 code H50.0; 737 cases and 170,976 controls), and (3) “divergent concomitant strabismus” (ICD-10 code H50.1; 1,059 cases and 170,976 controls). Results The WRB polymorphism was associated with “all subtypes” of strabismus (OR = 1.08; P = 0.008) and divergent strabismus (OR = 1.11; P = 0.046) but not with convergent strabismus (P = 0.41). The WRB polymorphism had a population attributable risk of 3.4% for all strabismus subtypes and 4.7% for divergent strabismus. The TSPAN10 polymorphism was associated with all three strabismus phenotypes: “all subtypes” (OR = 1.08; P = 0.002), convergent strabismus (OR = 1.19; P = 0.001) and divergent strabismus (OR = 1.20; P =7.21E-05). The population attributable risk for the TSPAN10 polymorphism was 6.0% for any strabismus, 13.3% for convergent strabismus, and 13.9% for divergent strabismus. Conclusions Genetic association with strabismus was replicated in a Finnish cohort for two common polymorphisms. Under the assumption that these polymorphisms are independent of other risk factors, they are responsible for up to 20% of isolated cases of strabismus in Finland, similar to estimates in other European populations.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Optometry and Vision Sciences
Publisher: Elsevier
ISSN: 1091-8531
Date of First Compliant Deposit: 2 March 2022
Date of Acceptance: 18 July 2021
Last Modified: 10 Nov 2022 10:44
URI: https://orca.cardiff.ac.uk/id/eprint/147978

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