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

Authors:
Dr.  Adrian Preda, M.D.
Dr. Adrian Preda, M.D.
University of California Irvine
Professor of Clinical Psychiatry and Human Behavior
Psychiatry
Orange, CA | United States
Trygve E Bakken J Cooper Roddey Srdjan Djurovic Natacha Akshoomoff David G Amaral Cinnamon S Bloss B J Casey Linda Chang Thomas M Ernst Jeffrey R Gruen Terry L Jernigan Walter E Kaufmann Tal Kenet David N Kennedy Joshua M Kuperman Sarah S Murray Elizabeth R Sowell Lars M Rimol Morten Mattingsdal Ingrid Melle Ingrid Agartz Ole A Andreassen Nicholas J Schork Anders M Dale Michael Weiner Paul Aisen Ronald Petersen Clifford R Jack William Jagust John Q Trojanowki Arthur W Toga Laurel Beckett Robert C Green Andrew J Saykin John Morris Enchi Liu Tom Montine Anthony Gamst Ronald G Thomas Michael Donohue Sarah Walter Devon Gessert Tamie Sather Danielle Harvey John Kornak Anders Dale Matthew Bernstein Joel Felmlee Nick Fox Paul Thompson Norbert Schuff Gene Alexander Charles DeCarli Dan Bandy Robert A Koeppe Norm Foster Eric M Reiman Kewei Chen Chet Mathis Nigel J Cairns Lisa Taylor-Reinwald J Q Trojanowki Les Shaw Virginia M Y Lee Magdalena Korecka Karen Crawford Scott Neu Tatiana M Foroud Steven Potkin Li Shen Zaven Kachaturian Richard Frank Peter J Snyder Susan Molchan Jeffrey Kaye Joseph Quinn Betty Lind Sara Dolen Lon S Schneider Sonia Pawluczyk Bryan M Spann James Brewer Helen Vanderswag Judith L Heidebrink Joanne L Lord Kris Johnson Rachelle S Doody Javier Villanueva-Meyer Munir Chowdhury Yaakov Stern Lawrence S Honig Karen L Bell John C Morris Beau Ances Maria Carroll Sue Leon Mark A Mintun Stacy Schneider Daniel Marson Randall Griffith David Clark Hillel Grossman Effie Mitsis Aliza Romirowsky Leyla deToledo-Morrell Raj C Shah Ranjan Duara Daniel Varon Peggy Roberts Marilyn Albert Chiadi Onyike Stephanie Kielb Henry Rusinek Mony J de Leon Lidia Glodzik Susan De Santi P Murali Doraiswamy Jeffrey R Petrella R Edward Coleman Steven E Arnold Jason H Karlawish David Wolk Charles D Smith Greg Jicha Peter Hardy Oscar L Lopez MaryAnn Oakley Donna M Simpson Anton P Porsteinsson Bonnie S Goldstein Kim Martin Kelly M Makino M Saleem Ismail Connie Brand Ruth A Mulnard Gaby Thai Catherine Mc-Adams-Ortiz Kyle Womack Dana Mathews Mary Quiceno Ramon Diaz-Arrastia Richard King Myron Weiner Kristen Martin-Cook Michael DeVous Allan I Levey James J Lah Janet S Cellar Jeffrey M Burns Heather S Anderson Russell H Swerdlow Liana Apostolova Po H Lu George Bartzokis Daniel H S Silverman Neill R Graff-Radford Francine Parfitt Heather Johnson Martin R Farlow Ann Marie Hake Brandy R Matthews Scott Herring Christopher H van Dyck Richard E Carson Martha G MacAvoy Howard Chertkow Howard Bergman Chris Hosein Sandra Black Bojana Stefanovic Curtis Caldwell Ging-Yuek Robin Hsiung Howard Feldman Benita Mudge Michele Assaly Andrew Kertesz John Rogers Dick Trost Charles Bernick Donna Munic Diana Kerwin Marek-Marsel Mesulam Kristina Lipowski Chuang-Kuo Wu Nancy Johnson Carl Sadowsky Walter Martinez Teresa Villena Raymond Scott Turner Kathleen Johnson Brigid Reynolds Reisa A Sperling Keith A Johnson Gad Marshall Meghan Frey Jerome Yesavage Joy L Taylor Barton Lane Allyson Rosen Jared Tinklenberg Marwan Sabbagh Christine Belden Sandra Jacobson Neil Kowall Ronald Killiany Andrew E Budson Alexander Norbash Patricia Lynn Johnson Thomas O Obisesan Saba Wolday Salome K Bwayo Alan Lerner Leon Hudson Paula Ogrocki Evan Fletcher Owen Carmichael John Olichney Smita Kittur Michael Borrie T-Y Lee Rob Bartha Sterling Johnson Sanjay Asthana Cynthia M Carlsson Steven G Potkin Dana Nguyen Pierre Tariot Adam Fleisher Stephanie Reeder Vernice Bates Horacio Capote Michelle Rainka Douglas W Scharre Maria Kataki Earl A Zimmerman Dzintra Celmins Alice D Brown Godfrey D Pearlson Karen Blank Karen Anderson Robert B Santulli Eben S Schwartz Kaycee M Sink Jeff D Williamson Pradeep Garg Franklin Watkins Brian R Ott Henry Querfurth Geoffrey Tremont Stephen Salloway Paul Malloy Stephen Correia Howard J Rosen Bruce L Miller Jacobo Mintzer Crystal Flynn Longmire Kenneth Spicer Elizabether Finger Irina Rachinsky Dick Drost Terry Jernigan Connor McCabe Ellen Grant Thomas Ernst Josh Kuperman Yoon Chung Sarah Murray Cinnamon Bloss Burcu Darst Lexi Pritchett Ashley Saito David Amaral Mishaela DiNino Bella Eyngorina Elizabeth Sowell Suzanne Houston Lindsay Soderberg Walter Kaufmann Peter van Zijl Hilda Rizzo-Busack Mohsin Javid Natasha Mehta Erika Ruberry Alisa Powers Bruce Rosen Nitzah Gebhard Holly Manigan Jean Frazier David Kennedy Lauren Yakutis Michael Hill Jeffrey Gruen Joan Bosson-Heenan Heatherly Carlson

Proc Natl Acad Sci U S A 2012 Mar 16;109(10):3985-90. Epub 2012 Feb 16.

Medical Scientist Training Program, University of California at San Diego, La Jolla, CA 92093, USA.

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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http://dx.doi.org/10.1073/pnas.1105829109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309762PMC
March 2012
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