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Common genetic determinants of intraocular pressure and primary open-angle Glaucoma
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نویسنده
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van koolwijk l.m.e. ,ramdas w.d. ,ikram m.k. ,jansonius n.m. ,pasutto f. ,hysi p.g. ,macgregor s. ,janssen s.f. ,hewitt a.w. ,viswanathan a.c. ,ten brink j.b. ,hosseini s.m. ,amin n. ,despriet d.d.g. ,willemse-assink j.j.m. ,kramer r. ,rivadeneira f. ,struchalin m. ,aulchenko y.s. ,weisschuh n. ,zenkel m. ,mardin c.y. ,gramer e. ,welge-lüssen u. ,montgomery g.w. ,carbonaro f. ,young t.l. ,bellenguez c. ,mcguffin p. ,foster p.j. ,topouzis f. ,mitchell p. ,wang j.j. ,wong t.y. ,czudowska m.a. ,hofman a. ,uitterlinden a.g. ,wolfs r.c.w. ,de jong p.t.v.m. ,oostra b.a. ,paterson a.d. ,mackey d.a. ,bergen a.a.b. ,reis a. ,hammond c.j. ,vingerling j.r. ,lemij h.g. ,klaver c.c.w. ,van duijn c.m.
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منبع
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plos genetics - 2012 - دوره : 8 - شماره : 5
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چکیده
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Intraocular pressure (iop) is a highly heritable risk factor for primary open-angle glaucoma and is the only target for current glaucoma therapy. the genetic factors which determine iop are largely unknown. we performed a genome-wide association study for iop in 11,972 participants from 4 independent population-based studies in the netherlands. we replicated our findings in 7,482 participants from 4 additional cohorts from the uk,australia,canada,and the wellcome trust case-control consortium 2/blue mountains eye study. iop was significantly associated with rs11656696,located in gas7 at 17p13.1 (p = 1.4×10-8),and with rs7555523,located in tmco1 at 1q24.1 (p = 1.6×10-8). in a meta-analysis of 4 case-control studies (total n = 1,432 glaucoma cases),both variants also showed evidence for association with glaucoma (p = 2.4×10-2 for rs11656696 and p = 9.1×10-4 for rs7555523). gas7 and tmco1 are highly expressed in the ciliary body and trabecular meshwork as well as in the lamina cribrosa,optic nerve,and retina. both genes functionally interact with known glaucoma disease genes. these data suggest that we have identified two clinically relevant genes involved in iop regulation. © 2012 van koolwijk et al.
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آدرس
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glaucoma service,the rotterdam eye hospital,rotterdam,netherlands,department of epidemiology,the erasmus university medical center,rotterdam, Netherlands, department of epidemiology,the erasmus university medical center,rotterdam,netherlands,department of ophthalmology,the erasmus university medical center,rotterdam, Netherlands, department of epidemiology,the erasmus university medical center,rotterdam,netherlands,department of ophthalmology,the erasmus university medical center,rotterdam,netherlands,department of neurology,the erasmus university medical center,rotterdam, Netherlands, department of epidemiology,the erasmus university medical center,rotterdam,netherlands,department of ophthalmology,university medical center groningen,university of groningen,groningen, Netherlands, institute of human genetics,university erlangen-nuremberg,erlangen, Germany, department of twin research and genetic epidemiology,king's college london,london, United Kingdom, queensland institute of medical research,brisbane, Australia, department of molecular ophthalmogenetics,the netherlands institute for neuroscience (nin),royal netherlands academy of arts and sciences (knaw),amsterdam, Netherlands, centre for eye research australia,university of melbourne,royal victorian eye and ear hospital,melbourne, Australia, nihr biomedical research centre for ophthalmology,moorfields eye hospital nhs foundation trust and ucl institute of ophthalmology,london, United Kingdom, department of molecular ophthalmogenetics,the netherlands institute for neuroscience (nin),royal netherlands academy of arts and sciences (knaw),amsterdam, Netherlands, program in genetics and genome biology,hospital for sick children,toronto, Canada, department of epidemiology,the erasmus university medical center,rotterdam, Netherlands, department of epidemiology,the erasmus university medical center,rotterdam,netherlands,department of ophthalmology,the erasmus university medical center,rotterdam, Netherlands, department of ophthalmology,amphia hospital,breda, Netherlands, department of ophthalmology,franciscus hospital,roosendaal, Netherlands, department of epidemiology,the erasmus university medical center,rotterdam,netherlands,department of internal medicine,the erasmus university medical center,rotterdam, Netherlands, department of epidemiology,the erasmus university medical center,rotterdam, Netherlands, department of epidemiology,the erasmus university medical center,rotterdam, Netherlands, molecular genetics laboratory,university eye hospital,tübingen, Germany, department of ophthalmology,university of erlangen-nuremberg,erlangen, Germany, department of ophthalmology,university of erlangen-nuremberg,erlangen, Germany, university eye hospital,würzburg, Germany, department of ophthalmology,friedrich-alexander university,erlangen, Germany, queensland institute of medical research,brisbane, Australia, department of twin research and genetic epidemiology,king's college london,london, United Kingdom, center for human genetics,duke university,durham,nc, United States, wellcome trust centre for human genetics,oxford, United Kingdom, mrc social genetic and developmental psychiatry research centre,institute of psychiatry,king's college,london, United Kingdom, nihr biomedical research centre for ophthalmology,moorfields eye hospital nhs foundation trust and ucl institute of ophthalmology,london, United Kingdom, department of ophthalmology,school of medicine,aristotle university of thessaloniki,ahepa hospital,thessaloniki, Greece, centre for vision research,university of sydney,sydney, Australia, centre for vision research,university of sydney,sydney, Australia, centre for eye research australia,university of melbourne,royal victorian eye and ear hospital,melbourne,australia,singapore national eye centre and singapore eye research institute,singapore,singapore,yong loo lin school of medicine,national university of singapore,singapore, Singapore, department of epidemiology,the erasmus university medical center,rotterdam,netherlands,department of ophthalmology,the erasmus university medical center,rotterdam, Netherlands, department of epidemiology,the erasmus university medical center,rotterdam, Netherlands, department of epidemiology,the erasmus university medical center,rotterdam,netherlands,department of internal medicine,the erasmus university medical center,rotterdam, Netherlands, department of epidemiology,the erasmus university medical center,rotterdam,netherlands,department of ophthalmology,the erasmus university medical center,rotterdam, Netherlands, department of molecular ophthalmogenetics,the netherlands institute for neuroscience (nin),royal netherlands academy of arts and sciences (knaw),amsterdam,netherlands,department of ophthalmology,academic medical center,amsterdam, Netherlands, department of clinical genetics,the erasmus university medical center,rotterdam, Netherlands, program in genetics and genome biology,hospital for sick children,toronto,canada,dalla lana school of public health,university of toronto,toronto, Canada, lions eye institute,university of western australia,centre for ophthalmology and visual science,perth, Australia, department of molecular ophthalmogenetics,the netherlands institute for neuroscience (nin),royal netherlands academy of arts and sciences (knaw),amsterdam,netherlands,department of ophthalmology,academic medical center,amsterdam,netherlands,department of clinical genetics,academic medical center,amsterdam, Netherlands, institute of human genetics,university erlangen-nuremberg,erlangen, Germany, department of twin research and genetic epidemiology,king's college london,london, United Kingdom, department of epidemiology,the erasmus university medical center,rotterdam,netherlands,department of ophthalmology,the erasmus university medical center,rotterdam, Netherlands, glaucoma service,the rotterdam eye hospital,rotterdam, Netherlands, department of epidemiology,the erasmus university medical center,rotterdam,netherlands,department of ophthalmology,the erasmus university medical center,rotterdam, Netherlands, department of epidemiology,the erasmus university medical center,rotterdam, Netherlands
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Authors
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