DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Cortical structure (interaction). The EFO term visual cortical surface area measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: visual cortical surface area measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

TE Bakken, JC Roddey, S Djurovic, N Akshoomoff, DG Amaral, CS Bloss, BJ Casey, L Chang, TM Ernst, JR Gruen, TL Jernigan, WE Kaufmann, T Kenet, DN Kennedy, JM Kuperman, SS Murray, ER Sowell, LM Rimol, M Mattingsdal, I Melle, I Agartz, OA Andreassen, NJ Schork, AM Dale, M Weiner, P Aisen, R Petersen, CR Jack, W Jagust, JQ Trojanowki, AW Toga, L Beckett, RC Green, AJ Saykin, J Morris, E Liu, T Montine, A Gamst, RG Thomas, M Donohue, S Walter, D Gessert, T Sather, D Harvey, J Kornak, A Dale, M Bernstein, J Felmlee, N Fox, P Thompson, N Schuff, G Alexander, C DeCarli, D Bandy, RA Koeppe, N Foster, EM Reiman, K Chen, C Mathis, NJ Cairns, L Taylor-Reinwald, JQ Trojanowki, L Shaw, VM Lee, M Korecka, K Crawford, S Neu, TM Foroud, S Potkin, L Shen, Z Kachaturian, R Frank, PJ Snyder, S Molchan, J Kaye, J Quinn, B Lind, S Dolen, LS Schneider, S Pawluczyk, BM Spann, J Brewer, H Vanderswag, JL Heidebrink, JL Lord, K Johnson, RS Doody, J Villanueva-Meyer, M Chowdhury, Y Stern, LS Honig, KL Bell, JC Morris, B Ances, M Carroll, S Leon, MA Mintun, S Schneider, D Marson, R Griffith, D Clark, H Grossman, E Mitsis, A Romirowsky, L deToledo-Morrell, RC Shah, R Duara, D Varon, P Roberts, M Albert, C Onyike, S Kielb, H Rusinek, MJ de Leon, L Glodzik, S De Santi, PM Doraiswamy, JR Petrella, RE Coleman, SE Arnold, JH Karlawish, D Wolk, CD Smith, G Jicha, P Hardy, OL Lopez, M Oakley, DM Simpson, AP Porsteinsson, BS Goldstein, K Martin, KM Makino, MS Ismail, C Brand, RA Mulnard, G Thai, C Mc-Adams-Ortiz, K Womack, D Mathews, M Quiceno, R Diaz-Arrastia, R King, M Weiner, K Martin-Cook, M DeVous, AI Levey, JJ Lah, JS Cellar, JM Burns, HS Anderson, RH Swerdlow, L Apostolova, PH Lu, G Bartzokis, DH Silverman, NR Graff-Radford, F Parfitt, H Johnson, MR Farlow, AM Hake, BR Matthews, S Herring, CH van Dyck, RE Carson, MG MacAvoy, H Chertkow, H Bergman, C Hosein, S Black, B Stefanovic, C Caldwell, Ging-Yuek, R Hsiung, H Feldman, B Mudge, M Assaly, A Kertesz, J Rogers, D Trost, C Bernick, D Munic, D Kerwin, MM Mesulam, K Lipowski, CK Wu, N Johnson, C Sadowsky, W Martinez, T Villena, RS Turner, K Johnson, B Reynolds, RA Sperling, KA Johnson, G Marshall, M Frey, J Yesavage, JL Taylor, B Lane, A Rosen, J Tinklenberg, M Sabbagh, C Belden, S Jacobson, N Kowall, R Killiany, AE Budson, A Norbash, PL Johnson, TO Obisesan, S Wolday, SK Bwayo, A Lerner, L Hudson, P Ogrocki, E Fletcher, O Carmichael, J Olichney, S Kittur, M Borrie, TY Lee, R Bartha, S Johnson, S Asthana, CM Carlsson, SG Potkin, A Preda, D Nguyen, P Tariot, A Fleisher, S Reeder, V Bates, H Capote, M Rainka, DW Scharre, M Kataki, EA Zimmerman, D Celmins, AD Brown, GD Pearlson, K Blank, K Anderson, RB Santulli, ES Schwartz, KM Sink, JD Williamson, P Garg, F Watkins, BR Ott, H Querfurth, G Tremont, S Salloway, P Malloy, S Correia, HJ Rosen, BL Miller, J Mintzer, CF Longmire, K Spicer, E Finger, I Rachinsky, D Drost, T Jernigan, C McCabe, E Grant, T Ernst, J Kuperman, Y Chung, S Murray, C Bloss, B Darst, L Pritchett, A Saito, D Amaral, M DiNino, B Eyngorina, E Sowell, S Houston, L Soderberg, W Kaufmann, P van Zijl, H Rizzo-Busack, M Javid, N Mehta, E Ruberry, A Powers, B Rosen, N Gebhard, H Manigan, J Frazier, D Kennedy, L Yakutis, M Hill, J Gruen, J Bosson-Heenan, H Carlson

TITLE:

Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.

JOURNAL:

Proceedings of the National Academy of Sciences of the United States of America Mar 2012, Vol 109, pp. 3985-90

ABSTRACT:

Visual cortical surface area varies two- to threefold between human individuals, is highly heritable, and has been correlated with visual acuity and visual perception. However, it is still largely unknown what specific genetic and environmental factors contribute to normal variation in the area of visual cortex. To identify SNPs associated with the proportional surface area of visual cortex, we performed a genome-wide association study followed by replication in two independent cohorts. We identified one SNP (rs6116869) that replicated in both cohorts and had genome-wide significant association (P(combined) = 3.2 × 10(-8)). Furthermore, a metaanalysis of imputed SNPs in this genomic region identified a more significantly associated SNP (rs238295; P = 6.5 × 10(-9)) that was in strong linkage disequilibrium with rs6116869. These SNPs are located within 4 kb of the 5' UTR of GPCPD1, glycerophosphocholine phosphodiesterase GDE1 homolog (Saccharomyces cerevisiae), which in humans, is more highly expressed in occipital cortex compared with the remainder of cortex than 99.9% of genes genome-wide. Based on these findings, we conclude that this common genetic variation contributes to the proportional area of human visual cortex. We suggest that identifying genes that contribute to normal cortical architecture provides a first step to understanding genetic mechanisms that underlie visual perception. PUBMED: 22343285
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