Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort

Metlapally, Ravikanth, Ki, Chang-Seok, Li, Yi-Ju, Tran-Viet, Khanh-Nhat, Abbott, Diana, Malecaze, Francois, Calvas, Patrick, Mackey, David A., Rosenberg, Thomas, Paget, Sandrine, Guggenheim, Jeremy Andrew ORCID: https://orcid.org/0000-0001-5164-340X and Young, Terri L. 2010. Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. Investigative Ophthalmology and Visual Science 51 (9) , pp. 4476-4479. 10.1167/iovs.09-4912

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Abstract

Purpose. Evidence from human myopia genetic mapping studies (MYP3 locus), modulated animal models, and observations of glycemic control in humans suggests that insulin-like growth factor (IGF)-1 plays a role in the control of eye growth. This study was conducted to determine whether IGF-1 polymorphisms are associated with myopia in a large, international dataset of Caucasian high-grade myopia pedigrees. Methods. Two hundred sixty-five multiplex families with 1391 subjects participated in the study. IGF-1 genotyping was performed with 13 selected tag single nucleotide polymorphisms (SNPs) using allelic discrimination assays. A family-based pedigree disequilibrium test (PDT) was performed to test for association. Myopia status was defined using sphere (SPH) or spherical equivalent (SE), and analyses assessed the association of (1) high-grade myopia (≤ −5.00 D), and (2) any myopia (≤ −0.50 D) with IGF-1 markers. Results were declared significant at P ≤ 0.0038 after Bonferroni correction. Q values that take into account multiple testing were also obtained. Results. In all, three SNPs—rs10860860, rs2946834, and rs6214—were present at P < 0.05. SNP rs6214 showed positive association with both the high-grade– and any-myopia groups (P = 2 × 10−3 and P = 2 × 10−3, respectively) after correction for multiple testing. Conclusions. The study supports a genetic association between IGF-1 and high-grade myopia. These findings are in line with recent evidence in an experimental myopia model showing that IGF-1 promotes ocular growth and axial myopia. IGF-1 may be a myopia candidate gene for further investigation.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Optometry and Vision Sciences
Subjects:	R Medicine > RE Ophthalmology
Additional Information:	Confirmation received by publisher on 21 February 2014 that publisher's pdf can be self-archived 6 months after publication.
Publisher:	Association for Research in Vision and Ophthalmology
ISSN:	0146-0404
Date of First Compliant Deposit:	30 March 2016
Last Modified:	15 May 2023 22:08
URI:	https://orca.cardiff.ac.uk/id/eprint/11983

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