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Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error

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收录情况: ◇ SCIE ◇ 自然指数

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机构: [1]Natl Univ Singapore, Dept Ophthalmol, Singapore 119228, Singapore [2]Natl Univ Hlth Syst, Singapore 119228, Singapore [3]Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 117597, Singapore [4]Natl Univ Hlth Syst, Singapore 117597, Singapore [5]Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore 168751, Singapore [6]Duke Natl Univ Singapore, Grad Sch Med, Off Clin Sci, Ctr Quantitat Med, Singapore 169857, Singapore [7]Univ Melbourne, Royal Victorian Eye & Ear Hosp, Ctr Eye Res Australia, Melbourne, Vic 3002, Australia [8]Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands [9]Duke Univ, Med Ctr, Dept Ophthalmol, Durham, NC 27710 USA [10]Duke Natl Univ Singapore, Grad Sch Med, Div Neurosci & Behav Disorders, Singapore 169857, Singapore [11]Hong Kong Polytech Univ, Sch Optometry, Ctr Myopia Res, Kowloon, Hong Kong, Peoples R China [12]Univ Edinburgh, Inst Genet & Mol Med, Human Genet Unit, MRC, Edinburgh EH4 2XU, Midlothian, Scotland [13]Queensland Inst Med Res, Brisbane, Qld 4029, Australia [14]Erasmus MC, Dept Epidemiol, NL-3000 CA Rotterdam, Netherlands [15]Duke Natl Univ Singapore, Grad Sch Med, Singapore 169857, Singapore [16]Kings Coll London, Sch Med, Dept Twin Res & Genet Epidemiol, London SE1 7EH, England [17]NHGRI, Inherited Dis Res Branch, NIH, Baltimore, MD 21224 USA [18]Univ Bristol, Sch Social & Community Med, Ctr Causal Anal Translat Epidemiol, MRC, Bristol BS8 2BN, Avon, England [19]Univ Bristol, Sch Social & Community Med, Bristol BS8 2BN, Avon, England [20]Capital Univ Med Sci, Beijing Tongren Hosp, Beijing Inst Ophthalmol, Beijing 100730, Peoples R China [21]Univ Sydney, Westmead Millennium Inst, Ctr Vis Res, Dept Ophthalmol, Sydney, NSW 2145, Australia [22]Univ Split, Fac Med, Split 21000, Croatia [23]Univ Edinburgh, Ctr Populat Hlth Sci, Edinburgh EH8 9AG, Midlothian, Scotland [24]Univ Western Australia, Sch Womens & Infants Hlth, Perth, WA 6009, Australia [25]Netherlands Inst Neurosci, NL-1105 BA Amsterdam, Netherlands [26]Univ Amsterdam, Acad Med Ctr, Dept Ophthalmol, NL-1105 AZ Amsterdam, Netherlands [27]Leids Univ, Med Ctr, NL-2300 RC Leiden, Netherlands [28]Flinders Univ S Australia, Dept Ophthalmol, Adelaide, SA 5001, Australia [29]Case Western Reserve Univ, Dept Epidemiol & Biostat, Cleveland, OH 44106 USA [30]Case Western Reserve Univ, Dept Ophthalmol & Visual Sci, Cleveland, OH 44106 USA [31]Univ Hosp Cleveland, Inst Eye, Cleveland, OH 44106 USA [32]Case Western Reserve Univ, Dept Genet, Cleveland, OH 44106 USA [33]Case Western Reserve Univ, Ctr Clin Invest, Cleveland, OH 44106 USA [34]NEI, NIH, Bethesda, MD 20892 USA [35]Univ Tartu, Estonian Genome Ctr, EE-51010 Tartu, Estonia [36]Univ Tartu, Inst Mol & Cell Biol, EE-51010 Tartu, Estonia [37]Univ Helsinki, Dept Publ Hlth, Hjelt Inst, Helsinki 00014, Finland [38]Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD 21205 USA [39]Univ Med Ctr Mainz, Dept Ophthalmol, D-55131 Mainz, Germany [40]Univ Heart Ctr Hamburg, Clin Gen & Intervent Cardiol, D-20246 Hamburg, Germany [41]Univ Med Ctr Mainz, Dept Clin Chem & Lab Med, D-55131 Mainz, Germany [42]Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany [43]Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany [44]Natl Res Council Italy, Inst Populat Genet, I-07100 Sassari, Italy [45]Univ Wisconsin, Sch Med & Publ Hlth, Dept Ophthalmol & Visual Sci, Madison, WI 53705 USA [46]Univ Toronto, Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 1X8, Canada [47]Univ Toronto, Inst Med Sci, Toronto, ON M5G 1X8, Canada [48]Univ Tampere, Tampere Univ Hosp, Filmlab Labs, Dept Clin Chem, Tampere 33520, Finland [49]Univ Tampere, Sch Med, Tampere 33520, Finland [50]Univ Tampere, Tampere Univ Hosp, Dept Clin Physiol, Tampere 33521, Finland [51]Univ Tampere, Sch Med, Tampere 33521, Finland [52]Univ Turku, Res Ctr Appl & Prevent Cardiovasc Med, Turku 20041, Finland [53]Turku Univ Hosp, Dept Clin Physiol & Nucl Med, Turku 20041, Finland [54]Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Kyoto 6068507, Japan [55]Kyoto Univ, Grad Sch Med, Dept Human Dis Genom, Kyoto 6068501, Japan [56]Chinese Univ Hong Kong, Prince Wales Hosp, Dept Ophthalmol & Visual Sci, Shatin, Hong Kong, Peoples R China [57]Chinese Univ Hong Kong, Hong Kong Eye Hosp, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R China [58]Hong Kong Polytech Univ, Dept Hlth Technol & Informat, Hong Kong, Hong Kong, Peoples R China [59]Yokohama City Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Yokohama, Kanagawa 2360004, Japan [60]Tokai Univ, Sch Med, Dept Genet Informat, Div Mol Life Sci, Tokyo, Kanagawa 2591193, Japan [61]Moorfields Eye Hosp, NIHR Biomed Res Ctr, London EC1V 2PD, England [62]UCL Inst Ophthalmol, London EC1V 2PD, England [63]Univ Cambridge, Inst Metab Sci, Epidemiol Unit, MRC, Cambridge CB2 0QQ, England [64]Natl Univ Singapore, Dept Med, Singapore 119228, Singapore [65]Princess Alexandra Eye Pavil, Edinburgh EH3 9HA, Midlothian, Scotland [66]Erasmus MC, Dept Internal Med, NL-3000 CA Rotterdam, Netherlands [67]Sisters Mercy Univ Hosp, Dept Ophthalmol, Zagreb 10000, Croatia [68]Genome Inst Singapore, Div Human Genet, Singapore 138672, Singapore [69]Univ Jyvaskyla, Dept Hlth Sci, Jyvaskyla 40014, Finland [70]Univ Jyvaskyla, Gerontol Res Ctr, Jyvaskyla 40014, Finland [71]Cent Hosp Cent Finland, Dept Ophthalmol, Jyvaskyla 40620, Finland [72]Univ Western Australia, Lions Eye Inst, Ctr Ophthalmol & Visual Sci, Perth, WA 6009, Australia [73]Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands [74]Natl Univ Singapore, Dept Stat & Appl Probabil, Singapore 117546, Singapore [75]Univ Penn, Dept Ophthalmol, Philadelphia, PA 19104 USA [76]Present address: Max Planck Institute of Psychiatry, Munich 80804, Germany
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摘要:
Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse experiments and human ocular tissues. Two of the AL genes, RSPO1 and ZNRF3, are involved in Wnt signaling, a pathway playing a major role in the regulation of eyeball size. This study provides evidence of shared genes between AL and refraction, but importantly also suggests that these traits may have unique pathways.

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出版当年[2012]版:
大类 | 1 区 生物
小类 | 1 区 遗传学
最新[2023]版:
大类 | 1 区 生物学
小类 | 1 区 遗传学
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出版当年[2011]版:
Q1 GENETICS & HEREDITY
最新[2023]版:
Q1 GENETICS & HEREDITY

影响因子: 最新[2023版] 最新五年平均 出版当年[2011版] 出版当年五年平均 出版前一年[2010版] 出版后一年[2012版]

第一作者:
第一作者机构: [1]Natl Univ Singapore, Dept Ophthalmol, Singapore 119228, Singapore [2]Natl Univ Hlth Syst, Singapore 119228, Singapore [3]Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 117597, Singapore [4]Natl Univ Hlth Syst, Singapore 117597, Singapore [5]Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore 168751, Singapore [6]Duke Natl Univ Singapore, Grad Sch Med, Off Clin Sci, Ctr Quantitat Med, Singapore 169857, Singapore
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通讯作者:
通讯机构: [1]Natl Univ Singapore, Dept Ophthalmol, Singapore 119228, Singapore [2]Natl Univ Hlth Syst, Singapore 119228, Singapore [3]Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 117597, Singapore [4]Natl Univ Hlth Syst, Singapore 117597, Singapore [5]Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore 168751, Singapore [6]Duke Natl Univ Singapore, Grad Sch Med, Off Clin Sci, Ctr Quantitat Med, Singapore 169857, Singapore
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