"Long before it's in the papers"
January 27, 2015


Five mental illnesses linked to same areas of genome

Feb. 28, 2013
Courtesy of The Lancet
and World Science staff

A new study has found “over­lapping” link­ages be­tween four points or ar­eas on the hu­man ge­nome, and five ma­jor psy­chi­at­ric dis­or­ders: schiz­o­phre­nia, bi­po­lar dis­or­der, au­tism, ma­jor de­pres­sion and at­ten­tion def­i­cit hy­per­ac­ti­vity dis­or­der.

“This anal­y­sis pro­vides the first ge­nome-wide ev­i­dence that in­di­vid­ual and ag­gre­gate mo­lec­u­lar ge­net­ic risk fac­tors are shared be­tween five childhood-onset or adult-onset psy­chi­at­ric dis­or­ders that are treated as dis­tinct cat­e­gories in clin­i­cal prac­tice,” said Jor­dan Smoller of Mas­sa­chu­setts Gen­er­al Hos­pi­tal in Bos­ton, one of the lead re­search­ers.

The find­ings are based on the larg­est ev­er ge­net­ic study of psy­chi­at­ric ill­ness and are pub­lished on­line in the medical jour­nal The Lan­cet. A re­search group called the Psy­chi­at­ric Ge­nomics Con­sor­ti­um scanned the ge­nome of 33,332 men­tal ill­ness pa­tients and 27,888 healthy pa­tients, all of Eu­ro­pe­an an­ces­try.

They iden­ti­fied four parts of the ge­nome with “sig­nif­i­cant and over­lap­ping” links with all five dis­eases. These are re­gions on chro­mo­somes 3p21 and 10q24, and varia­t­ions in two genes that make com­po­nents of mo­lec­u­lar chan­nels that reg­u­late the flow of cal­ci­um in brain cells. The genes are called CAC­NA1C and CAC­NB2.

“Our re­sults pro­vide new ev­i­dence that may in­form a move be­yond de­scrip­tive syn­dromes in psy­chi­a­try and to­wards clas­sifica­t­ion based on un­der­ly­ing causes. These find­ings are par­tic­u­larly rel­e­vant in view of the im­mi­nent re­vi­sion of clas­sifica­t­ions,” Smoller said.

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A new study has linked each of four points or areas on the human genome to five major psychiatric disorders: schizophrenia, bipolar disorder, autism, major depression and attention deficit hyperactivity disorder. “This analysis provides the first genome-wide evidence that individual and aggregate molecular genetic risk factors are shared between five childhood-onset or adult-onset psychiatric disorders that are treated as distinct categories in clinical practice,” said Jordan Smoller of Massachusetts General Hospital in Boston, one of the lead researchers. The findings are based on the largest ever genetic study of psychiatric illness and are published online in the journal The Lancet. A research group called the Psychiatric Genomics Consortium scanned the genome of 33,332 mental illness patients and 27,888 healthy patients, all of European ancestry. They identified four parts of the genome with “significant and overlapping” links with all five diseases. These are regions on chromosomes 3p21 and 10q24, and variations in two genes that make components of molecular channels that regulate the flow of calcium in brain cells. The genes are called CACNA1C and CACNB2. “Our results provide new evidence that may inform a move beyond descriptive syndromes in psychiatry and towards classification based on underlying causes. These findings are particularly relevant in view of the imminent revision of classifications,” Smoller said.