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

Publication ,  Journal Article
Bakken, TE; Roddey, JC; Djurovic, S; Akshoomoff, N; Amaral, DG; Bloss, CS; Casey, BJ; Chang, L; Ernst, TM; Gruen, JR; Jernigan, TL; Kenet, T ...
Published in: Proc Natl Acad Sci U S A
March 6, 2012

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.

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Published In

Proc Natl Acad Sci U S A

DOI

EISSN

1091-6490

Publication Date

March 6, 2012

Volume

109

Issue

10

Start / End Page

3985 / 3990

Location

United States

Related Subject Headings

  • Visual Cortex
  • Saccharomyces cerevisiae
  • Polymorphism, Single Nucleotide
  • Phosphoric Diester Hydrolases
  • Models, Genetic
  • Middle Aged
  • Male
  • Humans
  • Genotype
  • Genomics
 

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Bakken, T. E., Roddey, J. C., Djurovic, S., Akshoomoff, N., Amaral, D. G., Bloss, C. S., … Carlson, H. (2012). Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans. Proc Natl Acad Sci U S A, 109(10), 3985–3990. https://doi.org/10.1073/pnas.1105829109
Bakken, Trygve E., J Cooper Roddey, Srdjan Djurovic, Natacha Akshoomoff, David G. Amaral, Cinnamon S. Bloss, B. J. Casey, et al. “Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.Proc Natl Acad Sci U S A 109, no. 10 (March 6, 2012): 3985–90. https://doi.org/10.1073/pnas.1105829109.
Bakken TE, Roddey JC, Djurovic S, Akshoomoff N, Amaral DG, Bloss CS, et al. Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans. Proc Natl Acad Sci U S A. 2012 Mar 6;109(10):3985–90.
Bakken, Trygve E., et al. “Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.Proc Natl Acad Sci U S A, vol. 109, no. 10, Mar. 2012, pp. 3985–90. Pubmed, doi:10.1073/pnas.1105829109.
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, 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, Shaw L, Lee VMY, 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, Martin-Cook K, DeVous M, Levey AI, Lah JJ, Cellar JS, Burns JM, Anderson HS, Swerdlow RH, Apostolova L, Lu PH, Bartzokis G, Silverman DHS, 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, Ging-Yuek, Hsiung R, Feldman H, Mudge B, Assaly M, Kertesz A, Rogers J, Trost D, Bernick C, Munic D, Kerwin D, Mesulam M-M, Lipowski K, Wu C-K, Johnson N, Sadowsky C, Martinez W, Villena T, Turner RS, 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 T-Y, 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. Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans. Proc Natl Acad Sci U S A. 2012 Mar 6;109(10):3985–3990.
Journal cover image

Published In

Proc Natl Acad Sci U S A

DOI

EISSN

1091-6490

Publication Date

March 6, 2012

Volume

109

Issue

10

Start / End Page

3985 / 3990

Location

United States

Related Subject Headings

  • Visual Cortex
  • Saccharomyces cerevisiae
  • Polymorphism, Single Nucleotide
  • Phosphoric Diester Hydrolases
  • Models, Genetic
  • Middle Aged
  • Male
  • Humans
  • Genotype
  • Genomics