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FältnamnIndikatorerMetadata
00008887naa a2200745 4500
001oai:DiVA.org:uu-527638
003SwePub
008240506s2024 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5276382 URI
0247 a https://doi.org/10.1016/j.xcrm.2024.1014302 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Lo Faro, Valeria,c Postdocu Uppsala universitet,Science for Life Laboratory, SciLifeLab,Genomik och neurobiologi,Univ Groningen, Univ Med Ctr Groningen, Dept Ophthalmol, Groningen, Netherlands.;Amsterdam Univ Med Ctr AMC, Dept Clin Genet, Amsterdam, Netherlands.4 aut0 (Swepub:uu)vallo470
2451 0a Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation
264 1b Elsevier,c 2024
338 a electronic2 rdacarrier
520 a Primary open -angle glaucoma (POAG), a leading cause of irreversible blindness globally, shows disparity in prevalence and manifestations across ancestries. We perform meta -analysis across 15 biobanks (of the Global Biobank Meta -analysis Initiative) (n = 1,487,441: cases = 26,848) and merge with previous multiancestry studies, with the combined dataset representing the largest and most diverse POAG study to date (n = 1,478,037: cases = 46,325) and identify 17 novel significant loci, 5 of which were ancestry specific. Gene -enrichment and transcriptome-wide association analyses implicate vascular and cancer genes, a fifth of which are primary ciliary related. We perform an extensive statistical analysis of SIX6 and CDKN2B-AS1 loci in human GTEx data and across large electronic health records showing interaction between SIX6 gene and causal variants in the chr9p21.3 locus, with expression effect on CDKN2A/B. Our results suggest that some POAG risk variants may be ancestry specific, sex specific, or both, and support the contribution of genes involved in programmed cell death in POAG pathogenesis.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650 7a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe
650 7a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng
7001 a Bhattacharya, Arjunu Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA USA.;Univ Calif Los Angeles, David Geffen Sch Med, Inst Quantitat & Computat Biosci, Los Angeles, CA USA.4 aut
7001 a Zhou, Weiu Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA USA.;Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA.;Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA USA.4 aut
7001 a Zhou, Danu Vanderbilt Univ, Med Ctr, Dept Med, Div Genet Med, Nashville, TN 37235 USA.;Vanderbilt Univ, Med Ctr, Vanderbilt Genet Inst, Nashville, TN 37235 USA.4 aut
7001 a Wang, Yingu Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA USA.;Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA.;Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA USA.4 aut
7001 a Läll, Kristiu Univ Tartu, Inst Genom, Estonian Genome Ctr, Tartu, Estonia.4 aut
7001 a Kanai, Masahirou Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA USA.;Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA.;Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA USA.;Osaka Univ, Dept Stat Genet, Grad Sch Med, Osaka, Japan.;Harvard Med Sch, Dept Biomed Informat, Boston, MA USA.4 aut
7001 a Lopera-Maya, Estebanu Univ Groningen, UMCG, Dept Genet, Groningen, Netherlands.4 aut
7001 a Straub, Peteru Vanderbilt Univ, Med Ctr, Dept Med, Div Genet Med, Nashville, TN 37235 USA.;Vanderbilt Univ, Med Ctr, Vanderbilt Genet Inst, Nashville, TN 37235 USA.4 aut
7001 a Pawar, Priyankau Vanderbilt Univ, Med Ctr, Vanderbilt Eye Inst, Nashville, TN USA.4 aut
7001 a Tao, Ranu Vanderbilt Univ, Med Ctr, Vanderbilt Genet Inst, Nashville, TN 37235 USA.;Vanderbilt Univ, Med Ctr, Dept Biostat, Nashville, TN USA.4 aut
7001 a Zhong, Xueu Vanderbilt Univ, Med Ctr, Dept Med, Div Genet Med, Nashville, TN 37235 USA.;Vanderbilt Univ, Med Ctr, Vanderbilt Genet Inst, Nashville, TN 37235 USA.4 aut
7001 a Namba, Shinichiu Osaka Univ, Dept Stat Genet, Grad Sch Med, Osaka, Japan.4 aut
7001 a Sanna, Serenau Natl Res Council CNR, Inst Genet & Biomed Res IRGB, Cagliari, Italy.4 aut
7001 a Nolte, Ilja M.u Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen, Netherlands.4 aut
7001 a Okada, Yukinoriu Osaka Univ, Dept Stat Genet, Grad Sch Med, Osaka, Japan.;RIKEN Ctr Integrat Med Sci, Lab Syst Genet, Yokohama, Kanagawa, Japan.;Immunol Frontier Res Ctr WPI IFReC, Lab Stat Immunol, Osaka, Japan.;Inst Open & Transdisciplinary Res Initiat, Integrated Frontier Res Med Sci Div, Osaka, Japan.;Osaka Univ, Ctr Infect Dis Educ & Res CiDER, Osaka, Japan.4 aut
7001 a Ingold, Nathanu Queensland Univ Technol, QIMR Berghofer Med Res Inst, Stat Genet, Brisbane, Qld, Australia.;Queensland Univ Technol, Fac Hlth, Sch Biomed Sci, Brisbane, Qld, Australia.4 aut
7001 a MacGregor, Stuartu Queensland Univ Technol, QIMR Berghofer Med Res Inst, Stat Genet, Brisbane, Qld, Australia.4 aut
7001 a Snieder, Haroldu Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen, Netherlands.4 aut
7001 a Surakka, Idau Univ Michigan, Dept Internal Med, Ann Arbor, MI USA.4 aut
7001 a Shortt, Jonathanu Univ Colorado Anschutz Med Campus, Colorado Ctr Personalized Med, Aurora, CO 80045 USA.4 aut
7001 a Gignoux, Chrisu Univ Colorado Anschutz Med Campus, Colorado Ctr Personalized Med, Aurora, CO 80045 USA.4 aut
7001 a Rafaels, Nicholasu Univ Colorado Anschutz Med Campus, Colorado Ctr Personalized Med, Aurora, CO 80045 USA.4 aut
7001 a Crooks, Kristyu Univ Colorado Anschutz Med Campus, Colorado Ctr Personalized Med, Aurora, CO 80045 USA.4 aut
7001 a Verma, Anuragu Univ Penn, Dept Med, Div Translat Med & Human Genet, Philadelphia, PA USA.;Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA USA.4 aut
7001 a Verma, Shefali S.u Univ Penn, Dept Pathol, Philadelphia, PA USA.4 aut
7001 a Guare, Lindsayu Univ Penn, Dept Pathol, Philadelphia, PA USA.;Univ Penn, Inst Biomed Informat, Philadelphia, PA USA.4 aut
7001 a Rader, Daniel J.u Univ Penn, Dept Med, Div Translat Med & Human Genet, Philadelphia, PA USA.;Univ Penn, Inst Translat Med & Therapeut, Philadelphia, PA USA.;Univ Penn, Dept Genet, Philadelphia, PA USA.4 aut
7001 a Willer, Cristenu Norwegian Univ Sci & Technol, KG Jebsen Ctr Genet Epidemiol, Dept Publ Hlth & Nursing, NTNU, Trondheim, Norway.;Univ Michigan, Dept Biostat, Ann Arbor, MI USA.;Univ Michigan, Ctr Stat Genet, Ann Arbor, MI USA.;Univ Michigan, Dept Human Genet, Ann Arbor, MI USA.4 aut
7001 a Martin, Alicia R.u Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA USA.;Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA.;Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA USA.4 aut
7001 a Brantley Jr, Milam A.u Vanderbilt Univ, Med Ctr, Vanderbilt Eye Inst, Nashville, TN USA.4 aut
7001 a Gamazon, Eric R.u Vanderbilt Univ, Med Ctr, Dept Med, Div Genet Med, Nashville, TN 37235 USA.;Vanderbilt Univ, Med Ctr, Vanderbilt Genet Inst, Nashville, TN 37235 USA.4 aut
7001 a Jansonius, Nomdo M.u Univ Groningen, Univ Med Ctr Groningen, Dept Ophthalmol, Groningen, Netherlands.4 aut
7001 a Joos, Karenu Vanderbilt Univ, Med Ctr, Vanderbilt Eye Inst, Nashville, TN USA.4 aut
7001 a Cox, Nancy J.u Vanderbilt Univ, Med Ctr, Dept Med, Div Genet Med, Nashville, TN 37235 USA.;Vanderbilt Univ, Med Ctr, Vanderbilt Genet Inst, Nashville, TN 37235 USA.4 aut
7001 a Hirbo, Jibrilu Vanderbilt Univ, Med Ctr, Dept Med, Div Genet Med, Nashville, TN 37235 USA.;Vanderbilt Univ, Med Ctr, Vanderbilt Genet Inst, Nashville, TN 37235 USA.4 aut
7102 a Uppsala universitetb Science for Life Laboratory, SciLifeLab4 org
7730 t Cell Reports Medicined : Elsevierg 5:2q 5:2x 2666-3791
8564 u https://doi.org/10.1016/j.xcrm.2024.101430y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1856284/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-527638
8564 8u https://doi.org/10.1016/j.xcrm.2024.101430

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