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

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PubMed URL:
Carlson H
Author List: 
Bakken TE
Roddey JC
Djurovic S
Akshoomoff N
Amaral DG
Bloss CS
Casey BJ
Chang L
Ernst TM
Gruen JR
Jernigan TL
Kaufmann WE
Kenet T
Kennedy DN
Kuperman JM
Murray SS
Sowell ER
Rimol LM
Mattingsdal M
Melle I
Agartz I
Andreassen OA
Schork NJ
Dale AM
Alzheimer's Disease Neuroimaging Initiative
Pediatric Imaging, Neurocognition, and Genetics Study
Weiner M
Aisen P
Petersen R
Jack CR Jr
Jagust W
Trojanowki JQ
Toga AW
Beckett L
Green RC
Saykin AJ
Morris J
Liu E
Montine T
Gamst A
Thomas RG
Donohue M
Walter S
Gessert D
Sather T
Harvey D
Kornak J
Dale A
Bernstein M
Felmlee J
Fox N
Thompson P
Schuff N
Alexander G
DeCarli C
Bandy D
Koeppe RA
Foster N
Reiman EM
Chen K
Mathis C
Cairns NJ
Taylor-Reinwald L
Trojanowki JQ
Shaw L
Lee VM
Korecka M
Crawford K
Neu S
Foroud TM
Potkin S
Shen L
Kachaturian Z
Frank R
Snyder PJ
Molchan S
Kaye J
Quinn J
Lind B
Dolen S
Schneider LS
Pawluczyk S
Spann BM
Brewer J
Vanderswag H
Heidebrink JL
Lord JL
Johnson K
Doody RS
Villanueva-Meyer J
Chowdhury M
Stern Y
Honig LS
Bell KL
Morris JC
Ances B
Carroll M
Leon S
Mintun MA
Schneider S
Marson D
Griffith R
Clark D
Grossman H
Mitsis E
Romirowsky A
deToledo-Morrell L
Shah RC
Duara R
Varon D
Roberts P
Albert M
Onyike C
Kielb S
Rusinek H
de Leon MJ
Glodzik L
De Santi S
Doraiswamy PM
Petrella JR
Coleman RE
Arnold SE
Karlawish JH
Wolk D
Smith CD
Jicha G
Hardy P
Lopez OL
Oakley M
Simpson DM
Porsteinsson AP
Goldstein BS
Martin K
Makino KM
Ismail MS
Brand C
Mulnard RA
Thai G
Mc-Adams-Ortiz C
Womack K
Mathews D
Quiceno M
Diaz-Arrastia R
King R
Weiner M
Martin-Cook K
DeVous M
Levey AI
Lah JJ
Cellar JS
Burns JM
Anderson HS
Swerdlow RH
Apostolova L
Bartzokis G
Silverman DH
Graff-Radford NR
Parfitt F
Johnson H
Farlow MR
Hake AM
Matthews BR
Herring S
van Dyck CH
Carson RE
MacAvoy MG
Chertkow H
Bergman H
Hosein C
Black S
Stefanovic B
Caldwell C
Hsiung R
Feldman H
Mudge B
Assaly M
Kertesz A
Rogers J
Trost D
Bernick C
Munic D
Kerwin D
Mesulam MM
Lipowski K
Johnson N
Sadowsky C
Martinez W
Villena T
Turner RS
Johnson K
Reynolds B
Sperling RA
Johnson KA
Marshall G
Frey M
Yesavage J
Taylor JL
Lane B
Rosen A
Tinklenberg J
Sabbagh M
Belden C
Jacobson S
Kowall N
Killiany R
Budson AE
Norbash A
Johnson PL
Obisesan TO
Wolday S
Bwayo SK
Lerner A
Hudson L
Ogrocki P
Fletcher E
Carmichael O
Olichney J
Kittur S
Borrie M
Lee TY
Bartha R
Johnson S
Asthana S
Carlsson CM
Potkin SG
Preda A
Nguyen D
Tariot P
Fleisher A
Reeder S
Bates V
Capote H
Rainka M
Scharre DW
Kataki M
Zimmerman EA
Celmins D
Brown AD
Pearlson GD
Blank K
Anderson K
Santulli RB
Schwartz ES
Sink KM
Williamson JD
Garg P
Watkins F
Ott BR
Querfurth H
Tremont G
Salloway S
Malloy P
Correia S
Rosen HJ
Miller BL
Mintzer J
Longmire CF
Spicer K
Finger E
Rachinsky I
Drost D
Jernigan T
McCabe C
Grant E
Ernst T
Kuperman J
Chung Y
Murray S
Bloss C
Darst B
Pritchett L
Saito A
Amaral D
DiNino M
Eyngorina B
Sowell E
Houston S
Soderberg L
Kaufmann W
van Zijl P
Rizzo-Busack H
Javid M
Mehta N
Ruberry E
Powers A
Rosen B
Gebhard N
Manigan H
Frazier J
Kennedy D
Yakutis L
Hill M
Gruen J
Bosson-Heenan J
Carlson H
Proc Natl Acad Sci U S A
PubMed ID: 
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.
Published Date: 
March, 2012

Bradley L. Schlaggar, M.D., Ph.D., Named President and CEO of Kennedy Krieger Institute

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