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Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

Publication ,  Journal Article
Li, Q; Wojciechowski, R; Simpson, CL; Hysi, PG; Verhoeven, VJM; Ikram, MK; Höhn, R; Vitart, V; Hewitt, AW; Oexle, K; Mäkelä, K-M; MacGregor, S ...
Published in: Hum Genet
February 2015

To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for each cohort separately using logistic regression. Meta-analysis was conducted using a fixed effects model. In the older European group the most strongly associated marker was downstream of the neurexin-1 (NRXN1) gene (rs1401327, P = 3.92E-8). No other region reached genome-wide significance, and association signals were lower for the younger European group and Asian group. In the meta-analysis of all cohorts, no marker reached genome-wide significance: The most strongly associated regions were, NRXN1 (rs1401327, P = 2.93E-07), TOX (rs7823467, P = 3.47E-07) and LINC00340 (rs12212674, P = 1.49E-06). For 34 markers identified in prior GWAS for spherical equivalent refractive error, the beta coefficients for genotype versus spherical equivalent, and genotype versus refractive astigmatism, were highly correlated (r = -0.59, P = 2.10E-04). This work revealed no consistent or strong genetic signals for refractive astigmatism; however, the TOX gene region previously identified in GWAS for spherical equivalent refractive error was the second most strongly associated region. Analysis of additional markers provided evidence supporting widespread genetic co-susceptibility for spherical and astigmatic refractive errors.

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Published In

Hum Genet

DOI

EISSN

1432-1203

Publication Date

February 2015

Volume

134

Issue

2

Start / End Page

131 / 146

Location

Germany

Related Subject Headings

  • White People
  • Neural Cell Adhesion Molecules
  • Nerve Tissue Proteins
  • Middle Aged
  • Male
  • Humans
  • High Mobility Group Proteins
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Markers
 

Citation

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Li, Q., Wojciechowski, R., Simpson, C. L., Hysi, P. G., Verhoeven, V. J. M., Ikram, M. K., … CREAM Consortium, . (2015). Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. Hum Genet, 134(2), 131–146. https://doi.org/10.1007/s00439-014-1500-y
Li, Qing, Robert Wojciechowski, Claire L. Simpson, Pirro G. Hysi, Virginie J. M. Verhoeven, Mohammad Kamran Ikram, René Höhn, et al. “Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.Hum Genet 134, no. 2 (February 2015): 131–46. https://doi.org/10.1007/s00439-014-1500-y.
Li Q, Wojciechowski R, Simpson CL, Hysi PG, Verhoeven VJM, Ikram MK, et al. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. Hum Genet. 2015 Feb;134(2):131–46.
Li, Qing, et al. “Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.Hum Genet, vol. 134, no. 2, Feb. 2015, pp. 131–46. Pubmed, doi:10.1007/s00439-014-1500-y.
Li Q, Wojciechowski R, Simpson CL, Hysi PG, Verhoeven VJM, Ikram MK, Höhn R, Vitart V, Hewitt AW, Oexle K, Mäkelä K-M, MacGregor S, Pirastu M, Fan Q, Cheng C-Y, St Pourcain B, McMahon G, Kemp JP, Northstone K, Rahi JS, Cumberland PM, Martin NG, Sanfilippo PG, Lu Y, Wang YX, Hayward C, Polašek O, Campbell H, Bencic G, Wright AF, Wedenoja J, Zeller T, Schillert A, Mirshahi A, Lackner K, Yip SP, Yap MKH, Ried JS, Gieger C, Murgia F, Wilson JF, Fleck B, Yazar S, Vingerling JR, Hofman A, Uitterlinden A, Rivadeneira F, Amin N, Karssen L, Oostra BA, Zhou X, Teo Y-Y, Tai ES, Vithana E, Barathi V, Zheng Y, Siantar RG, Neelam K, Shin Y, Lam J, Yonova-Doing E, Venturini C, Hosseini SM, Wong H-S, Lehtimäki T, Kähönen M, Raitakari O, Timpson NJ, Evans DM, Khor C-C, Aung T, Young TL, Mitchell P, Klein B, van Duijn CM, Meitinger T, Jonas JB, Baird PN, Mackey DA, Wong TY, Saw S-M, Pärssinen O, Stambolian D, Hammond CJ, Klaver CCW, Williams C, Paterson AD, Bailey-Wilson JE, Guggenheim JA, CREAM Consortium. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. Hum Genet. 2015 Feb;134(2):131–146.
Journal cover image

Published In

Hum Genet

DOI

EISSN

1432-1203

Publication Date

February 2015

Volume

134

Issue

2

Start / End Page

131 / 146

Location

Germany

Related Subject Headings

  • White People
  • Neural Cell Adhesion Molecules
  • Nerve Tissue Proteins
  • Middle Aged
  • Male
  • Humans
  • High Mobility Group Proteins
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Markers