Sökning: onr:"swepub:oai:DiVA.org:uu-527638" > Novel ancestry-spec...
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000 | 08887naa a2200745 4500 | |
001 | oai:DiVA.org:uu-527638 | |
003 | SwePub | |
008 | 240506s2024 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5276382 URI |
024 | 7 | a https://doi.org/10.1016/j.xcrm.2024.1014302 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | 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 |
245 | 1 0 | a Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation |
264 | 1 | b 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 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
650 | 7 | a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng |
700 | 1 | 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 |
700 | 1 | 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 |
700 | 1 | 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 |
700 | 1 | 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 |
700 | 1 | a Läll, Kristiu Univ Tartu, Inst Genom, Estonian Genome Ctr, Tartu, Estonia.4 aut |
700 | 1 | 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 |
700 | 1 | a Lopera-Maya, Estebanu Univ Groningen, UMCG, Dept Genet, Groningen, Netherlands.4 aut |
700 | 1 | 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 |
700 | 1 | a Pawar, Priyankau Vanderbilt Univ, Med Ctr, Vanderbilt Eye Inst, Nashville, TN USA.4 aut |
700 | 1 | 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 |
700 | 1 | 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 |
700 | 1 | a Namba, Shinichiu Osaka Univ, Dept Stat Genet, Grad Sch Med, Osaka, Japan.4 aut |
700 | 1 | a Sanna, Serenau Natl Res Council CNR, Inst Genet & Biomed Res IRGB, Cagliari, Italy.4 aut |
700 | 1 | a Nolte, Ilja M.u Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen, Netherlands.4 aut |
700 | 1 | 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 |
700 | 1 | 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 |
700 | 1 | a MacGregor, Stuartu Queensland Univ Technol, QIMR Berghofer Med Res Inst, Stat Genet, Brisbane, Qld, Australia.4 aut |
700 | 1 | a Snieder, Haroldu Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen, Netherlands.4 aut |
700 | 1 | a Surakka, Idau Univ Michigan, Dept Internal Med, Ann Arbor, MI USA.4 aut |
700 | 1 | a Shortt, Jonathanu Univ Colorado Anschutz Med Campus, Colorado Ctr Personalized Med, Aurora, CO 80045 USA.4 aut |
700 | 1 | a Gignoux, Chrisu Univ Colorado Anschutz Med Campus, Colorado Ctr Personalized Med, Aurora, CO 80045 USA.4 aut |
700 | 1 | a Rafaels, Nicholasu Univ Colorado Anschutz Med Campus, Colorado Ctr Personalized Med, Aurora, CO 80045 USA.4 aut |
700 | 1 | a Crooks, Kristyu Univ Colorado Anschutz Med Campus, Colorado Ctr Personalized Med, Aurora, CO 80045 USA.4 aut |
700 | 1 | 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 |
700 | 1 | a Verma, Shefali S.u Univ Penn, Dept Pathol, Philadelphia, PA USA.4 aut |
700 | 1 | a Guare, Lindsayu Univ Penn, Dept Pathol, Philadelphia, PA USA.;Univ Penn, Inst Biomed Informat, Philadelphia, PA USA.4 aut |
700 | 1 | 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 |
700 | 1 | 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 |
700 | 1 | 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 |
700 | 1 | a Brantley Jr, Milam A.u Vanderbilt Univ, Med Ctr, Vanderbilt Eye Inst, Nashville, TN USA.4 aut |
700 | 1 | 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 |
700 | 1 | a Jansonius, Nomdo M.u Univ Groningen, Univ Med Ctr Groningen, Dept Ophthalmol, Groningen, Netherlands.4 aut |
700 | 1 | a Joos, Karenu Vanderbilt Univ, Med Ctr, Vanderbilt Eye Inst, Nashville, TN USA.4 aut |
700 | 1 | 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 |
700 | 1 | 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 |
710 | 2 | a Uppsala universitetb Science for Life Laboratory, SciLifeLab4 org |
773 | 0 | t Cell Reports Medicined : Elsevierg 5:2q 5:2x 2666-3791 |
856 | 4 | u https://doi.org/10.1016/j.xcrm.2024.101430y Fulltext |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1856284/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-527638 |
856 | 4 8 | u https://doi.org/10.1016/j.xcrm.2024.101430 |
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