Dataset Information

Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.

ABSTRACT:

Purpose

To evaluate the roles of known myopia-associated genetic variants for development of myopic macular degeneration (MMD) in individuals with high myopia (HM), using case-control studies from the Consortium of Refractive Error and Myopia (CREAM).

Methods

A candidate gene approach tested 50 myopia-associated loci for association with HM and MMD, using meta-analyses of case-control studies comprising subjects of European and Asian ancestry aged 30 to 80 years from 10 studies. Fifty loci with the strongest associations with myopia were chosen from a previous published GWAS study. Highly myopic (spherical equivalent [SE] ≤ -5.0 diopters [D]) cases with MMD (N = 348), and two sets of controls were enrolled: (1) the first set included 16,275 emmetropes (SE ≤ -0.5 D); and (2) second set included 898 highly myopic subjects (SE ≤ -5.0 D) without MMD. MMD was classified based on the International photographic classification for pathologic myopia (META-PM).

Results

In the first analysis, comprising highly myopic cases with MMD (N = 348) versus emmetropic controls without MMD (N = 16,275), two SNPs were significantly associated with high myopia in adults with HM and MMD: (1) rs10824518 (P = 6.20E-07) in KCNMA1, which is highly expressed in human retinal and scleral tissues; and (2) rs524952 (P = 2.32E-16) near GJD2. In the second analysis, comprising highly myopic cases with MMD (N = 348) versus highly myopic controls without MMD (N = 898), none of the SNPs studied reached Bonferroni-corrected significance.

Conclusions

Of the 50 myopia-associated loci, we did not find any variant specifically associated with MMD, but the KCNMA1 and GJD2 loci were significantly associated with HM in highly myopic subjects with MMD, compared to emmetropes.

SUBMITTER: Wong YL

PROVIDER: S-EPMC6695159 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Publications

Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.

Wong Yee-Ling YL Hysi Pirro P Cheung Gemmy G Tedja Milly M Hoang Quan V QV Tompson Stuart W J SWJ Whisenhunt Kristina N KN Verhoeven Virginie V Zhao Wanting W Hess Moritz M Wong Chee-Wai CW Kifley Annette A Hosoda Yoshikatsu Y Haarman Annechien E G AEG Hopf Susanne S Laspas Panagiotis P Sensaki Sonoko S Sim Xueling X Miyake Masahiro M Tsujikawa Akitaka A Lamoureux Ecosse E Ohno-Matsui Kyoko K Nickels Stefan S Mitchell Paul P Wong Tien-Yin TY Wang Jie Jin JJ Hammond Christopher J CJ Barathi Veluchamy A VA Cheng Ching-Yu CY Yamashiro Kenji K Young Terri L TL Klaver Caroline C W CCW Saw Seang-Mei SM

PloS one 20190815 8

<h4>Purpose</h4>To evaluate the roles of known myopia-associated genetic variants for development of myopic macular degeneration (MMD) in individuals with high myopia (HM), using case-control studies from the Consortium of Refractive Error and Myopia (CREAM).<h4>Methods</h4>A candidate gene approach tested 50 myopia-associated loci for association with HM and MMD, using meta-analyses of case-control studies comprising subjects of European and Asian ancestry aged 30 to 80 years from 10 studies. F ...[more]

PMID: 31415580

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Dataset Information

Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.

Purpose

Methods

Results

Conclusions

Publications

Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.

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