Genome-wide association studies in the hunt for genes causing primary open-angle glaucoma: a review

被引：18

作者：

Burdon, Kathryn P. ^{[1
]}

机构：

[1] Flinders Univ S Australia, Dept Ophthalmol, Adelaide, SA 5001, Australia

来源：

CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | 2012年 / 40卷 / 04期

基金：

英国医学研究理事会;

关键词：

endophenotype; genetics; primary open-angle glaucoma; quantitative trait loci; TO-DISC RATIO; COMMON VARIANTS; RISK; LOCI; PSEUDOEXFOLIATION; SUSCEPTIBILITY; MUTATION; JAPANESE; ATOH7; TMCO1;

D O I：

10.1111/j.1442-9071.2011.02744.x

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Genome-wide association studies are a powerful tool for the identification of genetic risk factors for complex disease. This methodology has been successfully applied to primary open-angle glaucoma through the analysis of primary open-angle glaucoma (POAG) as well as specific subgroups of patients including those with normal tension glaucoma and advanced glaucoma. In addition, the analysis of quantitative traits important in POAG, including optic disc area and vertical cup-to-disc ratio has also identified genes important in POAG development. This review explores findings of genome-wide association studies for POAG and related traits.

引用

页码：358 / 363

页数：6

共 32 条

[1] Lack of Association Between LOXL1 Gene Polymorphisms and Primary Open Angle Glaucoma in the Saudi Arabian Population [J].

Abu-Amero, Khaled K. ;

Osman, Essam A. ;

Azad, Mohammad T. ;

Allingham, R. Rand ;

Hauser, Michael A. ;

Al-Obeidan, Saleh A. .

OPHTHALMIC GENETICS, 2012, 33 (03) :130-133

[2] Long Noncoding RNA, Polycomb, and the Ghosts Haunting INK4b-ARF-INK4a Expression [J].

Aguilo, Francesca ;

Zhou, Ming-Ming ;

Walsh, Martin J. .

CANCER RESEARCH, 2011, 71 (16) :5365-5369

[3]

[Anonymous], 1994, 49 ANN CORN SORGH IN

[4] Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1 [J].

Burdon, Kathryn P. ;

Macgregor, Stuart ;

Hewitt, Alex W. ;

Sharma, Shiwani ;

Chidlow, Glyn ;

Mills, Richard A. ;

Danoy, Patrick ;

Casson, Robert ;

Viswanathan, Ananth C. ;

Liu, Jimmy Z. ;

Landers, John ;

Henders, Anjali K. ;

Wood, John ;

Souzeau, Emmanuelle ;

Crawford, April ;

Leo, Paul ;

Wang, Jie Jin ;

Rochtchina, Elena ;

Nyholt, Dale R. ;

Martin, Nicholas G. ;

Montgomery, Grant W. ;

Mitchell, Paul ;

Brown, Matthew A. ;

Mackey, David A. ;

Craig, Jamie E. .

NATURE GENETICS, 2011, 43 (06) :574-U110

[5] The Path to Open-Angle Glaucoma Gene Discovery: Endophenotypic Status of Intraocular Pressure, Cup-to-Disc Ratio, and Central Corneal Thickness [J].

Charlesworth, Jac ;

Kramer, Patricia L. ;

Dyer, Tom ;

Diego, Victor ;

Samples, John R. ;

Craig, Jamie E. ;

Mackey, David A. ;

Hewitt, Alex W. ;

Blangero, John ;

Wirtz, Mary K. .

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (07) :3509-3514

[6]

Chen HY, 2010, MOL VIS, V16, P167

[7] Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene [J].

Christensen, Anne E. ;

Knappskog, Per M. ;

Midtbo, Marit ;

Gjesdal, Clara G. ;

Mengel-From, Jonas ;

Morling, Niels ;

Rodahl, Eyvind ;

Boman, Helge .

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (01) :47-52

[8] Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations [J].

Cornes, Belinda K. ;

Khor, Chiea Chuen ;

Nongpiur, Monisha E. ;

Xu, Liang ;

Tay, Wan-Ting ;

Zheng, Yingfeng ;

Lavanya, Raghavan ;

Li, Yang ;

Wu, Renyi ;

Sim, Xueling ;

Wang, Ya-Xing ;

Chen, Peng ;

Teo, Yik Ying ;

Chia, Kee-Seng ;

Seielstad, Mark ;

Liu, Jianjun ;

Hibberd, Martin L. ;

Cheng, Ching-Yu ;

Saw, Seang-Mei ;

Tai, E-Shyong ;

Jonas, Jost B. ;

Vithana, Eranga N. ;

Wong, Tien Y. ;

Aung, Tin .

HUMAN MOLECULAR GENETICS, 2012, 21 (02) :437-445

[9] Estimation of significance thresholds for genomewide association scans [J].

Dudbridge, Frank ;

Gusnanto, Arief .

GENETIC EPIDEMIOLOGY, 2008, 32 (03) :227-234

[10] Genetic Variants Associated with Optic Nerve Vertical Cup-to-Disc Ratio Are Risk Factors for Primary Open Angle Glaucoma in a US Caucasian Population [J].

Fan, Bao Jian ;

Wang, Dan Yi ;

Pasquale, Louis R. ;

Haines, Jonathan L. ;

Wiggs, Janey L. .

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2011, 52 (03) :1788-1792

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