Genome-wide association study identifies new locus associated with
OCD
Authors: Strom Nora I. , Yu Dongmei , Gerring Zachary F. , Halvorsen Matthew W. , Abdellaoui Abdel , Rodriguez-Fontenla Cristina , Sealock Julia M. , Bigdeli Tim , Coleman Jonathan R. I. , Mahjani Behrang , Thorp Jackson G. , Bey Katharina , Burton Christie L. , Luykx Jurjen J. , Zai Gwyneth , Askland Kathleen D. , Barlassina Cristina , Nissen Judith Becker , Bellodi Laura , Bienvenu O. Joseph , Black Donald , Bloch Michael , Boberg Julia , Bosch Rosa , Breen Michael , Brennan Brian P. , Brentani Helena , Buxbaum Joseph D. , Bybjerg-Grauholm Jonas , Byrne Enda M. , Camarena Beatriz , Camarena Adrian , Cappi Carolina , Carracedo Angel , Casas Miguel , Cavallini Maria C. , Ciullo Valentina , Cook Edwin H. , Coric Vladimir , Cullen Bernadette A. , De Schipper Elles J. , Devlin Bernie , Djurovic Srdjan , Elias Jason A. , Erdman Lauren , Estivil Xavier , Falkenstein Martha J. , Fundin Bengt T. , Gabrielsen Maiken E. , Goes Fernando S. , Grados Marco A. , Grove Jakob , Guo Wei , Haavik Jan , Hagen Kristen , Havdahl Alexandra , Hounie Ana G. , Hucks Donald , Hultman Christina , Janecka Magdalena , Jenike Michael , Karlsson Elinor K. , Klawohn Julia , Klei Lambertus , Krasnow Janice , Krebs Kristi , Krompinger Jason , Lanzagorta Nuria , Macciardi Fabio , Maher Brion , McArthur Evonne , McGregor Nathaniel , McLaughlin Nicole C. , Meier Sandra , Miguel Euripedes C. , Mulhern Maureen , Nestadt Paul S. , Nurmi Erika L. , O’Connell Kevin S. , Osiecki Lisa , Palviainen Teemu , Piras Fabrizio , Piras Federica , Pulver Ann E. , Rabionet Raquel , Ramirez Alfredo , Rauch Scott , Reichenberg Abraham , Reichert Jennifer , Riddle Mark A. , Ripke Stephan , Sampaio Aline S. , Schiele Miriam A. , Sloofman Laura G. , Smit Jan , Sobell Janet L. , Artigas María Soler , Thomas Laurent F. , Vallada Homero , Veenstra-VanderWeele Jeremy , Vulink Nienke N. C. C. , Walker Christopher P. , Wang Ying , Wendland Jens R. , Winsvold Bendik S. , Yao Yin , Alonso Pino , Berberich Götz , Bulik Cynthia M. , Cath Danielle , Cusi Daniele , Delorme Richard , Denys Damiaan , Eapen Valsamma , Falkai Peter , Fernandez Thomas V. , Fyer Abby J. , Geller Daniel A. , Grabe Hans J. , Greenberg Benjamin D. , Hanna Gregory L. , Hickie Ian M. , Hougaard David M. , Kathmann Norbert , Kennedy James , Kung-Yee Liang , Landén Mikael , Le Hellard Stéphanie , Leboyer Marion , Lochner Christine , McCracken James T. , Medland Sarah E. , Mortensen Preben B. , Neale Benjamin , Nicolini Humberto , Nordentoft Merete , Pato Michele , Pato Carlos , Pauls David L. , Pedersen Nancy L. , Piacentini John , Pittenger Christopher , Posthuma Danielle , Ramos-Quiroga Josep A , Rasmussen Steven A. , Ressler Kerry J. , Richter Margaret A. , Rosário Maria C. , Rosenberg David R. , Ruhrmann Stephan , Samuels Jack F. , Sandin Sven , Sandor Paul , Spalletta Gianfranco , Stein Dan J. , Stewart S. Evelyn , Storch Eric A. , Stranger Barbara E. , Turiel Maurizio , Werge Thomas , Andreassen Ole A. , Børglum Anders D. , Walitza Susanne , Hansen Bjarne K. A. , Rück Christian P. , Martin Nicholas G. , Milani Lili , Mors Ole , Reichborn-Kjennerud Ted , Ribasés Marta , Kvale Gerd , Mataix-Cols David , Domschke Katharina , Grünblatt Edna , Wagner Michael , Zwart John-Anker , Breen Gerome , Nestadt Gerald , Metspalu Andres , Kaprio Jaakko , Arnold Paul D. , Grice Dorothy E. , Knowles James A. , Ask Helga , Verweij Karin J. H. , Davis Lea K. , Smit Dirk J. A. , Crowley James J. , Mathews Carol A. , Derks Eske M. , Scharf Jeremiah M. , Mattheisen Manuel 
Published: February 2022

Obsessive-compulsive disorder (OCD) is a heritable disorder, but no
definitive, replicated OCD susceptibility loci have yet been identified by any
genome-wide association study (GWAS). Here, we report results from a GWAS in the
largest OCD case-control sample (N = 14,140 OCD cases and N = 562,117 controls)
to date. We explored the genetic architecture of OCD, including its genetic
relationships to other psychiatric and non-psychiatric phenotypes. In the GWAS
analysis, we identified one SNP associated with OCD at a genome-wide significant
level. Subsequent gene-based analyses identified additional two genes as
potentially implicated in OCD pathogenesis. All SNPs combined explained 16% of
the heritability of OCD. We show sub-stantial positive genetic correlations
between OCD and a range of psychiatric disorders, including anxiety disorders,
anorexia nervosa, and major depression. We thus for the first time provide
evidence of a genome-wide locus implicated in OCD and strengthen previous
literature suggesting a polygenic nature of this disorder.