Genome-wide association study and meta-analysis of intraocular pressure

被引：81

作者：

Ozel, A. Bilge ^{[1
]}

Moroi, Sayoko E. ^{[2
]}

Reed, David M. ^{[2
]}

Nika, Melisa ^{[2
]}

Schmidt, Caroline M. ^{[2
]}

Akbari, Sara ^{[2
]}

Scott, Kathleen ^{[2
]}

Rozsa, Frank ^{[2
]}

Pawar, Hemant ^{[2
]}

Musch, David C. ^{[2
,3
]}

Lichter, Paul R. ^{[2
]}

Gaasterland, Doug ^{[4
]}

Branham, Kari ^{[2
]}

Gilbert, Jesse ^{[2
]}

Garnai, Sarah J. ^{[2
]}

Chen, Wei ^{[5
,6
,7
]}

Othman, Mohammad ^{[2
]}

Heckenlively, John ^{[2
]}

Swaroop, Anand ^{[8
]}

Abecasis, Goncalo ^{[9
]}

Friedman, David S. ^{[10
]}

Zack, Don ^{[10
]}

Ashley-Koch, Allison ^{[11
]}

Ulmer, Megan ^{[11
]}

Kang, Jae H. ^{[12
]}

Liu, Yutao ^{[11
]}

Yaspan, Brian L. ^{[13
]}

Haines, Jonathan ^{[13
]}

Allingham, R. Rand ^{[11
]}

Hauser, Michael A. ^{[11
]}

Pasquale, Louis ^{[12
,14
]}

Wiggs, Janey ^{[14
]}

Richards, Julia E. ^{[2
,3
]}

Li, Jun Z. ^{[1
]}

机构：

[1] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

[2] Univ Michigan, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48109 USA

[3] Univ Michigan, Dept Epidemiol, Ann Arbor, MI 48109 USA

[4] Eye Doctors Washington DC, Washington, DC USA

[5] Univ Pittsburgh, Childrens Hosp Pittsburgh, Sch Med, Div Pulm Med Allergy & Immunol, Pittsburgh, PA USA

[6] Univ Pittsburgh, Dept Biostat, Pittsburgh, PA 15261 USA

[7] Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA USA

[8] NEI, NIH, Bethesda, MD 20892 USA

[9] Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA

[10] Johns Hopkins Univ, Sch Med, Dept Ophthalmol, Baltimore, MD 21205 USA

[11] Duke Univ, Sch Med, Ctr Human Genet, Durham, NC USA

[12] Brigham & Womens Hosp, Channing Div Network Med, Boston, MA 02115 USA

[13] Vanderbilt Univ, Sch Med, Ctr Human Genet Res, Nashville, TN 37212 USA

[14] Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Dept Ophthalmol, Boston, MA USA

来源：

HUMAN GENETICS | 2014年 / 133卷 / 01期

关键词：

OPEN-ANGLE GLAUCOMA; CENTRAL CORNEAL THICKNESS; TO-DISC RATIO; MACULAR DEGENERATION; MOLECULAR-BIOLOGY; GENETIC-VARIANTS; RISK-FACTORS; HERITABILITY; EYE; POPULATION;

D O I：

10.1007/s00439-013-1349-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Elevated intraocular pressure (IOP) is a major risk factor for glaucoma and is influenced by genetic and environmental factors. Recent genome-wide association studies (GWAS) reported associations with IOP at TMCO1 and GAS7, and with primary open-angle glaucoma (POAG) at CDKN2B-AS1, CAV1/CAV2, and SIX1/SIX6. To identify novel genetic variants and replicate the published findings, we performed GWAS and meta-analysis of IOP in > 6,000 subjects of European ancestry collected in three datasets: the NEI Glaucoma Human genetics collaBORation, GLAUcoma Genes and ENvironment study, and a subset of the Age-related Macular Degeneration-Michigan, Mayo, AREDS and Pennsylvania study. While no signal achieved genome-wide significance in individual datasets, a meta-analysis identified significant associations with IOP at TMCO1 (rs7518099-G, p = 8.0 x 10(-8)). Focused analyses of five loci previously reported for IOP and/or POAG, i.e., TMCO1, CDKN2B-AS1, GAS7, CAV1/CAV2, and SIX1/SIX6, revealed associations with IOP that were largely consistent across our three datasets, and replicated the previously reported associations in both effect size and direction. These results confirm the involvement of common variants in multiple genomic regions in regulating IOP and/or glaucoma risk.

引用

页码：41 / 57

页数：17

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