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Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma

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机构: [1]Capital Med Univ, Beijing Tongren Hosp, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Eye Ctr, Beijing, Peoples R China [2]Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore, Singapore [3]Natl Univ Hlth Syst, Dept Ophthalmol, Singapore, Singapore [4]Genome Inst Singapore, Singapore, Singapore [5]Natl Univ Hlth Syst, Dept Paediat, Singapore, Singapore [6]Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 117548, Singapore [7]Sankara Nethralaya, Vis Res Fdn, Chennai, Tamil Nadu, India [8]Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Hong Kong, Hong Kong, Peoples R China [9]Vietnam Natl Inst Ophthalmol, Hanoi, Vietnam [10]King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh 11461, Saudi Arabia [11]Univ Florida, Coll Med, Dept Ophthalmol, Jacksonville, FL USA [12]Chinese Univ Hong Kong, Shantou Univ, Joint Shantou Int Eye Ctr, Shantou, Peoples R China [13]Moorfields Eye Hosp, NIHR, Biomed Res Ctr Ophthalmol, London, England [14]UCL, Inst Ophthalmol, London, England [15]Univ Sains Malaysia, Sch Med Sci, Dept Ophthalmol, Kota Baharu, Malaysia [16]Capital Med Univ, Beijing Tongren Hosp, Beijing Inst Ophthalmol, Beijing, Peoples R China [17]Xiamen Univ, Xiamen Eye Ctr, Xiamen, Peoples R China [18]Tan Tock Seng Hosp, Dept Ophthalmol, Singapore, Singapore [19]Xingtai Eye Hosp, Xingtai, Peoples R China [20]Handan Eye Hosp, Handan, Peoples R China [21]Anyang Eye Hosp, Anyang, Peoples R China [22]Case Western Reserve Univ, Dept Epidemiol & Biostat, Cleveland, OH 44106 USA [23]Natl Univ Singapore, Ctr Mol Epidemiol, Singapore 117548, Singapore [24]Duke Univ, Med Ctr, Dept Ophthalmol, Durham, NC 27710 USA [25]Heidelberg Univ, Dept Ophthalmol, Med Fac Mannheim, Heidelberg, Germany [26]Natl Univ Hlth Syst, Dept Med, Singapore, Singapore [27]Duke Natl Univ Singapore, Grad Sch Med, Singapore, Singapore [28]Univ Oxford, Clin Res Unit, Ho Chi Minh City, Vietnam [29]Univ Oxford, Nuffield Dept Clin Med, Ctr Trop Med, Oxford, England [30]State Key Lab Oncol So China, Guangzhou, Guangdong, Peoples R China [31]Sun Yat Sen Univ, Ctr Canc, Dept Expt Res, Guangzhou 510275, Guangdong, Peoples R China [32]Chinese Acad Med Sci, Peking Union Med Coll, Beijing 100730, Peoples R China
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Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR) = 1.22; P = 5.33 x 10(-12)), rs3753841 in COL11A1 (per-allele OR = 1.20; P = 9.22 x 10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR = 1.50; P = 3.29 x 10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG.

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出版当年[2011]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[2010]版:
Q1 GENETICS & HEREDITY
最新[2023]版:
Q1 GENETICS & HEREDITY

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第一作者机构: [2]Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore, Singapore [3]Natl Univ Hlth Syst, Dept Ophthalmol, Singapore, Singapore
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