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Common Variants on Chromosome 9p21 Are Associated with Normal Tension Glaucoma

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  • Mitsuko Takamoto
  • Toshikatsu Kaburaki
  • Akihiko Mabuchi
  • Makoto Araie
  • Shiro Amano
  • Makoto Aihara
  • Atsuo Tomidokoro
  • Aiko Iwase
  • Fumihiko Mabuchi
  • Kenji Kashiwagi
  • Shiroaki Shirato
  • Noriko Yasuda
  • Hidetoshi Kawashima
  • Fumiko Nakajima
  • Jiro Numaga
  • Yoshiya Kawamura
  • Tsukasa Sasaki
  • Katsushi Tokunaga

Abstract

Although intraocular pressure (IOP) is the most definitive cause of glaucoma, a subtype of open angle glaucoma (OAG) termed normal tension glaucoma (NTG), which occurs in spite of normal IOP, accounts for a large part of glaucoma cases, especially in Japan. To find common genetic variants contributing to NTG in Japanese patients, we conducted a genome-wide association study (GWAS). We performed the first screening for 531,009 autosomal SNPs with a discovery cohort of 286 cases and 557 controls, and then a second screening for the top 30 suggestive loci in an independent cohort of 183 cases and 514 controls. Our findings identified a significantly associated SNP; rs523096 [combined p-value = 7.40× 10−8, odds ratio (OR) = 2.00 with 95% confidence interval (CI) 1.55–2.58] located 10 kbp upstream of CDKN2B on chromosome 9p21. Moreover, analysis of another independent case-control set successfully replicated the results of the screening studies (combined values of all 3 stages p = 4.96 × 10−11, OR = 2.13 with 95% CI 1.69–2.68). The SNPs near rs523096 were recently reported to be associated with OAG associated with elevated IOP in primary open-angle glaucoma (POAG), the predominant subtype of glaucoma in Caucasian populations. Our results revealed that the 9p21 locus is also associated with NTG in Japanese. In addition, we identified SNPs more strongly associated with NTG.

Suggested Citation

  • Mitsuko Takamoto & Toshikatsu Kaburaki & Akihiko Mabuchi & Makoto Araie & Shiro Amano & Makoto Aihara & Atsuo Tomidokoro & Aiko Iwase & Fumihiko Mabuchi & Kenji Kashiwagi & Shiroaki Shirato & Noriko Y, 2012. "Common Variants on Chromosome 9p21 Are Associated with Normal Tension Glaucoma," PLOS ONE, Public Library of Science, vol. 7(7), pages 1-8, July.
    • Handle: RePEc:plo:pone00:0040107
    DOI: 10.1371/journal.pone.0040107
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    References listed on IDEAS

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    1. Axel Visel & Yiwen Zhu & Dalit May & Veena Afzal & Elaine Gong & Catia Attanasio & Matthew J. Blow & Jonathan C. Cohen & Edward M. Rubin & Len A. Pennacchio, 2010. "Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice," Nature, Nature, vol. 464(7287), pages 409-412, March.
    2. Wishal D Ramdas & Leonieke M E van Koolwijk & M Kamran Ikram & Nomdo M Jansonius & Paulus T V M de Jong & Arthur A B Bergen & Aaron Isaacs & Najaf Amin & Yurii S Aulchenko & Roger C W Wolfs & Albert H, 2010. "A Genome-Wide Association Study of Optic Disc Parameters," PLOS Genetics, Public Library of Science, vol. 6(6), pages 1-12, June.
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