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A common variant near TGFBR3 is associated with primary open angle glaucoma.

Publication ,  Journal Article
Li, Z; Allingham, RR; Nakano, M; Jia, L; Chen, Y; Ikeda, Y; Mani, B; Chen, L-J; Kee, C; Garway-Heath, DF; Sripriya, S; Fuse, N; Abu-Amero, KK ...
Published in: Hum Mol Genet
July 1, 2015

Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10(-33)), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10(-8)). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis.

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Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

July 1, 2015

Volume

24

Issue

13

Start / End Page

3880 / 3892

Location

England

Related Subject Headings

  • Receptors, Transforming Growth Factor beta
  • Proteoglycans
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Humans
  • Glaucoma, Open-Angle
  • Genotype
  • Genetics & Heredity
  • Genetic Variation
 

Citation

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Li, Z., Allingham, R. R., Nakano, M., Jia, L., Chen, Y., Ikeda, Y., … Vithana, E. N. (2015). A common variant near TGFBR3 is associated with primary open angle glaucoma. Hum Mol Genet, 24(13), 3880–3892. https://doi.org/10.1093/hmg/ddv128
Li, Zheng, R Rand Allingham, Masakazu Nakano, Liyun Jia, Yuhong Chen, Yoko Ikeda, Baskaran Mani, et al. “A common variant near TGFBR3 is associated with primary open angle glaucoma.Hum Mol Genet 24, no. 13 (July 1, 2015): 3880–92. https://doi.org/10.1093/hmg/ddv128.
Li Z, Allingham RR, Nakano M, Jia L, Chen Y, Ikeda Y, et al. A common variant near TGFBR3 is associated with primary open angle glaucoma. Hum Mol Genet. 2015 Jul 1;24(13):3880–92.
Li, Zheng, et al. “A common variant near TGFBR3 is associated with primary open angle glaucoma.Hum Mol Genet, vol. 24, no. 13, July 2015, pp. 3880–92. Pubmed, doi:10.1093/hmg/ddv128.
Li Z, Allingham RR, Nakano M, Jia L, Chen Y, Ikeda Y, Mani B, Chen L-J, Kee C, Garway-Heath DF, Sripriya S, Fuse N, Abu-Amero KK, Huang C, Namburi P, Burdon K, Perera SA, Gharahkhani P, Lin Y, Ueno M, Ozaki M, Mizoguchi T, Krishnadas SR, Osman EA, Lee MC, Chan ASY, Tajudin L-SA, Do T, Goncalves A, Reynier P, Zhang H, Bourne R, Goh D, Broadway D, Husain R, Negi AK, Su DH, Ho C-L, Blanco AA, Leung CKS, Wong TT, Yakub A, Liu Y, Nongpiur ME, Han JC, Hon DN, Shantha B, Zhao B, Sang J, Zhang N, Sato R, Yoshii K, Panda-Jonas S, Ashley Koch AE, Herndon LW, Moroi SE, Challa P, Foo JN, Bei J-X, Zeng Y-X, Simmons CP, Bich Chau TN, Sharmila PF, Chew M, Lim B, Tam POS, Chua E, Ng XY, Yong VHK, Chong YF, Meah WY, Vijayan S, Seongsoo S, Xu W, Teo YY, Cooke Bailey JN, Kang JH, Haines JL, Cheng CY, Saw S-M, Tai E-S, ICAARE-Glaucoma Consortium, NEIGHBORHOOD Consortium, Richards JE, Ritch R, Gaasterland DE, Pasquale LR, Liu J, Jonas JB, Milea D, George R, Al-Obeidan SA, Mori K, Macgregor S, Hewitt AW, Girkin CA, Zhang M, Sundaresan P, Vijaya L, Mackey DA, Wong TY, Craig JE, Sun X, Kinoshita S, Wiggs JL, Khor C-C, Yang Z, Pang CP, Wang N, Hauser MA, Tashiro K, Aung T, Vithana EN. A common variant near TGFBR3 is associated with primary open angle glaucoma. Hum Mol Genet. 2015 Jul 1;24(13):3880–3892.
Journal cover image

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

July 1, 2015

Volume

24

Issue

13

Start / End Page

3880 / 3892

Location

England

Related Subject Headings

  • Receptors, Transforming Growth Factor beta
  • Proteoglycans
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Humans
  • Glaucoma, Open-Angle
  • Genotype
  • Genetics & Heredity
  • Genetic Variation