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Common variant at 16p11.2 conferring risk of psychosis.

ABSTRACT: Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association study, meta-analysis and follow-up (totaling as many as 18?206 cases and 42?536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7469 bipolar disorder cases, 1535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46?160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255[T]; odds ratio=1.08; P=6.6 × 10(-11)). The new variant is located within a 593-kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255[T] is also associated with lower BMI (P=0.0039 in the public GIANT consortium data set; P=0.00047 in 22?651 additional Icelanders).

SUBMITTER: Steinberg S 

PROVIDER: S-EPMC3872086 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature

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Common variant at 16p11.2 conferring risk of psychosis.

Steinberg S S   de Jong S S   Mattheisen M M   Costas J J   Demontis D D   Jamain S S   Pietiläinen O P H OP   Lin K K   Papiol S S   Huttenlocher J J   Sigurdsson E E   Vassos E E   Giegling I I   Breuer R R   Fraser G G   Walker N N   Melle I I   Djurovic S S   Agartz I I   Tuulio-Henriksson A A   Suvisaari J J   Lönnqvist J J   Paunio T T   Olsen L L   Hansen T T   Ingason A A   Pirinen M M   Strengman E E   Hougaard D M DM   Orntoft T T   Didriksen M M   Hollegaard M V MV   Nordentoft M M   Abramova L L   Kaleda V V   Arrojo M M   Sanjuán J J   Arango C C   Etain B B   Bellivier F F   Méary A A   Schürhoff F F   Szoke A A   Ribolsi M M   Magni V V   Siracusano A A   Sperling S S   Rossner M M   Christiansen C C   Kiemeney L A LA   Franke B B   van den Berg L H LH   Veldink J J   Curran S S   Bolton P P   Poot M M   Staal W W   Rehnstrom K K   Kilpinen H H   Freitag C M CM   Meyer J J   Magnusson P P   Saemundsen E E   Martsenkovsky I I   Bikshaieva I I   Martsenkovska I I   Vashchenko O O   Raleva M M   Paketchieva K K   Stefanovski B B   Durmishi N N   Pejovic Milovancevic M M   Lecic Tosevski D D   Silagadze T T   Naneishvili N N   Mikeladze N N   Surguladze S S   Vincent J B JB   Farmer A A   Mitchell P B PB   Wright A A   Schofield P R PR   Fullerton J M JM   Montgomery G W GW   Martin N G NG   Rubino I A IA   van Winkel R R   Kenis G G   De Hert M M   Réthelyi J M JM   Bitter I I   Terenius L L   Jönsson E G EG   Bakker S S   van Os J J   Jablensky A A   Leboyer M M   Bramon E E   Powell J J   Murray R R   Corvin A A   Gill M M   Morris D D   O'Neill F A FA   Kendler K K   Riley B B   Craddock N N   Owen M J MJ   O'Donovan M C MC   Thorsteinsdottir U U   Kong A A   Ehrenreich H H   Carracedo A A   Golimbet V V   Andreassen O A OA   Børglum A D AD   Mors O O   Mortensen P B PB   Werge T T   Ophoff R A RA   Nöthen M M MM   Rietschel M M   Cichon S S   Ruggeri M M   Tosato S S   Palotie A A   St Clair D D   Rujescu D D   Collier D A DA   Stefansson H H   Stefansson K K  

Molecular psychiatry 20121120 1

Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association study, meta-analysis and follow-up (totaling as many as 18 206 cases and 42 536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7469 bipolar disorder cases, 1535 schizophrenia cases, 333 other p  ...[more]

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