دورية أكاديمية
أعرض في EDS

ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.

التفاصيل البيبلوغرافية
العنوان: ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.
المؤلفون: Nongpiur ME; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore., Khor CC; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore; Infectious Diseases, Genome Institute of Singapore, Singapore; Human Genetics, Genome Institute of Singapore, Singapore; Department of Paediatrics, National University Health System & National University of Singapore, Singapore; Saw Swee Hock School of Public Health, National University of Singapore, Singapore., Jia H; Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China., Cornes BK; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore., Chen LJ; Department of Ophthalmology & Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China., Qiao C; Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China., Nair KS; Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, United States of America., Cheng CY; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore; Saw Swee Hock School of Public Health, National University of Singapore, Singapore; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore., Xu L; Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, China., George R; Vision Research Foundation, Sankara Nethralaya, Chennai, India., Tan D; Vietnam National Institute of Ophthalmology, Hanoi, Vietnam., Abu-Amero K; Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Perera SA; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore., Ozaki M; Ozaki Eye Hospital, Hyuga, Japan., Mizoguchi T; Mizoguchi Eye Clinic, Sasebo, Japan., Kurimoto Y; Kobe Gen Hospital, Kobe, Japan., Low S; NIHR Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom., Tajudin LS; Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia., Ho CL; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore., Tham CC; Department of Ophthalmology & Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China., Soto I; Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, United States of America., Chew PT; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore., Wong HT; Department of Ophthalmology, Tan Tock Seng Hospital, Singapore., Shantha B; Vision Research Foundation, Sankara Nethralaya, Chennai, India., Kuroda M; Kobe Gen Hospital, Kobe, Japan., Osman EA; Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Tang G; Xingtai Eye Hospital, Xingtai, China., Fan S; Handan Eye Hospital, Handan, China., Meng H; Anyang Eye Hospital, Anyang, China., Wang H; Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China., Feng B; Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China., Yong VH; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore., Ting SM; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore., Li Y; Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, China., Wang YX; Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, China., Li Z; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore., Lavanya R; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore., Wu RY; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore., Zheng YF; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore., Su DH; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore., Loon SC; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore., Yong VK, Allingham RR; Duke University Medical Center, Durham, North Carolina, United States of America., Hauser MA; Duke University Medical Center, Durham, North Carolina, United States of America., Soumittra N; Vision Research Foundation, Sankara Nethralaya, Chennai, India., Ramprasad VL; Vision Research Foundation, Sankara Nethralaya, Chennai, India., Waseem N; NIHR Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom., Yaakub A; Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia., Chia KS; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore., Kumaramanickavel G; Vision Research Foundation, Sankara Nethralaya, Chennai, India., Wong TT; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore., How AC; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore., Chau TN; Oxford University Clinical Research Unit, Ho Chi Minh City, Vietnam., Simmons CP; Oxford University Clinical Research Unit, Ho Chi Minh City, Vietnam; Centre for Tropical Medicine, Nuffield Department of Clinical Medicine, Oxford University, Oxford, United Kingdom., Bei JX; State Key Laboratory of Oncology in Southern China, Guangzhou, China; Department of Experimental Research, Sun Yat-Sen University Cancer Centre, Guangzhou, China., Zeng YX; State Key Laboratory of Oncology in Southern China, Guangzhou, China; Department of Experimental Research, Sun Yat-Sen University Cancer Centre, Guangzhou, China; Peking Union Medical College, Chinese Academy of Medical Science, Beijing, China., Bhattacharya SS; NIHR Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom., Zhang M; Shantou University/Chinese University of Hong Kong Joint Shantou International Eye Center, Shantou, China., Tan DT; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore., Teo YY; Human Genetics, Genome Institute of Singapore, Singapore; Saw Swee Hock School of Public Health, National University of Singapore, Singapore., Al-Obeidan SA; Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Hon DN; Vietnam National Institute of Ophthalmology, Hanoi, Vietnam., Tai ES; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore; Department of Medicine, National University Health System & National University of Singapore, Singapore., Saw SM; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore; Saw Swee Hock School of Public Health, National University of Singapore, Singapore., Foster PJ; NIHR Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom., Vijaya L; Vision Research Foundation, Sankara Nethralaya, Chennai, India., Jonas JB; Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University Heidelberg, Germany., Wong TY; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore; Saw Swee Hock School of Public Health, National University of Singapore, Singapore; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore., John SW; Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, United States of America., Pang CP; Department of Ophthalmology & Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China., Vithana EN; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore., Wang N; Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China; Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China., Aung T; Singapore Eye Research Institute and Singapore National Eye Centre, Singapore; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore.
المصدر: PLoS genetics [PLoS Genet] 2014 Mar 06; Vol. 10 (3), pp. e1004089. Date of Electronic Publication: 2014 Mar 06 (Print Publication: 2014).
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
أسماء مطبوعة: Original Publication: San Francisco, CA : Public Library of Science, c2005-
مواضيع طبية MeSH: Genome-Wide Association Study*, Anterior Chamber/*pathology , Glaucoma, Angle-Closure/*genetics , Multidrug Resistance-Associated Proteins/*genetics, Anterior Chamber/metabolism ; Asian People ; Glaucoma, Angle-Closure/pathology ; Humans ; Polymorphism, Single Nucleotide ; Risk Factors
مستخلص: Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size =  -0.045 mm, P = 8.17 × 10(-9)). This locus was associated with an increase in risk of PACG in a separate case-control study of 4,276 PACG cases and 18,801 controls (per-allele OR = 1.13 [95% CI: 1.06-1.22], P = 0.00046). The association was strengthened when a sub-group of controls with open angles were included in the analysis (per-allele OR = 1.30, P = 7.45 × 10(-9); 3,458 cases vs. 3,831 controls). Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants influencing anterior chamber dimensions.
التعليقات: Erratum in: PLoS Genet. 2014 Apr;10(4):e1004352. Yong, Vernon K Y [added].
References: FEBS J. 2007 Jan;274(2):439-50. (PMID: 17229149)
BMC Mol Biol. 2007 May 23;8:42. (PMID: 17521428)
Nat Genet. 2012 Sep;44(9):981-90. (PMID: 22885922)
Proc Natl Acad Sci U S A. 2000 Jun 20;97(13):7476-81. (PMID: 10840050)
Ophthalmology. 2012 Feb;119(2):278-82. (PMID: 22118998)
N Engl J Med. 2008 May 22;358(21):2299-300. (PMID: 18499582)
Arch Ophthalmol. 2005 Apr;123(4):527-32. (PMID: 15824227)
Diabetes. 2008 Apr;57(4):1125-30. (PMID: 18071025)
Br J Ophthalmol. 2006 Mar;90(3):262-7. (PMID: 16488940)
Comp Biochem Physiol B Biochem Mol Biol. 2011 Jan;158(1):46-55. (PMID: 20869459)
Am J Hum Genet. 2007 Sep;81(3):559-75. (PMID: 17701901)
Hum Mol Genet. 2011 May 1;20(9):1864-72. (PMID: 21307088)
J Biol Chem. 2000 Sep 29;275(39):30069-74. (PMID: 10893247)
Hum Mol Genet. 2011 Feb 15;20(4):649-58. (PMID: 21098505)
Nat Genet. 2011 Oct 16;43(11):1139-41. (PMID: 22001756)
Invest Ophthalmol Vis Sci. 2008 Nov;49(11):4790-4. (PMID: 18586876)
Invest Ophthalmol Vis Sci. 2008 Jan;49(1):81-6. (PMID: 18172078)
Nature. 2012 Aug 2;488(7409):96-9. (PMID: 22801501)
Arch Ophthalmol. 2000 Feb;118(2):257-63. (PMID: 10676792)
N Engl J Med. 2006 Mar 23;354(12):1264-72. (PMID: 16554528)
Mol Cancer Ther. 2005 May;4(5):855-63. (PMID: 15897250)
Arch Ophthalmol. 2000 Aug;118(8):1105-11. (PMID: 10922206)
Graefes Arch Clin Exp Ophthalmol. 2008 Apr;246(4):587-92. (PMID: 18196258)
Invest Ophthalmol Vis Sci. 2006 Jul;47(7):2782-8. (PMID: 16799014)
Nat Genet. 2012 Oct;44(10):1142-1146. (PMID: 22922875)
Arch Ophthalmol. 2008 May;126(5):686-91. (PMID: 18474780)
N Engl J Med. 2013 Jan 10;368(2):107-16. (PMID: 23150908)
Nat Genet. 2011 Nov 13;43(12):1241-6. (PMID: 22081228)
Ophthalmic Epidemiol. 2009 Nov-Dec;16(6):325-36. (PMID: 19995197)
Ophthalmology. 2000 Sep;107(9):1710-6. (PMID: 10964834)
Br J Ophthalmol. 2001 Nov;85(11):1277-82. (PMID: 11673287)
N Engl J Med. 2013 Jan 10;368(2):117-27. (PMID: 23150934)
Nature. 2007 Jun 7;447(7145):661-78. (PMID: 17554300)
Ophthalmic Epidemiol. 2007 Jan-Feb;14(1):25-35. (PMID: 17365815)
Br J Ophthalmol. 2000 Feb;84(2):186-92. (PMID: 10655196)
Hum Mol Genet. 2012 Jan 15;21(2):437-45. (PMID: 21984434)
Nat Genet. 2011 Oct 23;43(12):1247-51. (PMID: 22019778)
Arch Ophthalmol. 1996 Oct;114(10):1235-41. (PMID: 8859083)
Invest Ophthalmol Vis Sci. 2013 Aug 27;54(8):5824-8. (PMID: 23920366)
Nat Genet. 2009 Dec;41(12):1330-4. (PMID: 19915572)
Br J Ophthalmol. 2001 Dec;85(12):1470-6. (PMID: 11734523)
J Ocul Pharmacol Ther. 2009 Apr;25(2):121-32. (PMID: 19323627)
Nat Genet. 2007 Jul;39(7):827-9. (PMID: 17558408)
معلومات مُعتمدة: R01 EY011721 United States EY NEI NIH HHS; United States HHMI Howard Hughes Medical Institute
المشرفين على المادة: 0 (ABCC5 protein, human)
0 (Multidrug Resistance-Associated Proteins)
تواريخ الأحداث: Date Created: 20140308 Date Completed: 20141125 Latest Revision: 20221207
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC3945113
DOI: 10.1371/journal.pgen.1004089
PMID: 24603532
قاعدة البيانات: MEDLINE
الوصف
تدمد:1553-7404
DOI:10.1371/journal.pgen.1004089