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Genetic analysis of rare and common variation in a large Brazilian bipolar family

Total Cost €


EC-Contrib. €






Project "BBFGEN" data sheet

The following table provides information about the project.


Organization address
address: STRAND
city: LONDON
postcode: WC2R 2LS

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country United Kingdom [UK]
 Project website
 Total cost 183˙454 €
 EC max contribution 183˙454 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2014
 Funding Scheme MSCA-IF-EF-ST
 Starting year 2015
 Duration (year-month-day) from 2015-05-01   to  2017-04-30


Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    KING'S COLLEGE LONDON UK (LONDON) coordinator 183˙454.00


 Project objective

This proposal describes my aim to use a uniquely large multigenerational family to better understand the genetic underpinnings of mood disorders: the Brazilian Bipolar Family (BBF). The family has a high incidence of mood disorders, featuring diminishing age of onset over generations and assortative mating, whereby many of the marriages in the family are between individuals with a psychiatric disorder. Mood disorders are leading contributors to the global burden of disease. Bipolar disorder is characterized by periods of elevated mood and periods of depression. Major depressive disorder is characterized by pervasive and persistent low mood, low self-esteem and loss of interest or pleasure in normally enjoyable activities. Heritability estimates are 37% for MDD and up to 75% for BP. The current picture for complex disorders is of a genetic architecture consisting of both common and rare variants contributing risk. Genetic studies of mood disorders have not yet individual variants/genes accounting for a large increase in risk. The effect of common variants in the family context is unclear. I propose to utilize the BBF as a unique resource for studying both common and rare variation in mood disorders. Its size offers a powerful means for mapping genetic loci for mood disorders that are individually rare but common within the family. It also provides us with a unique model in which to analyse individual genetic risk profiles, utilizing the large sample size of and predictive ability of previous case-control association studies for each family member into a polygenic risk score. This will also allow me to assess assortative mating, which may act to increase polygenic risk to mood disorders over generations. I will develop an approach which will allow me to incorporate genome-wide case-control study results into family studies – something with broad utility for the field. My study will shed light on the genetic pathology of mood disorders, aiding prevention and treatment.


year authors and title journal last update
List of publications.
2017 Danai Dima; Gerome Breen; Sophia Frangou; Simone de Jong
The polygenic risk for bipolar disorder influences brain regional function relating to visual and default state processing of emotional information
published pages: , ISSN: 2213-1582, DOI: 10.1016/j.nicl.2016.10.022
Neuroimage: Clinical 1 2019-06-14
2017 Mateus Jose Abdalla Diniz, Andiara Calado Saloma Rodrigues, View ORCID ProfileAry Gadelha, Shaza Alsabban, Camila Guindalini, Jose Paya-Cano, View ORCID ProfileSimone de Jong, View ORCID ProfilePeter McGuffin, View ORCID ProfileRodrigo Affonseca Bressan, View ORCID ProfileGerome Breen
Whole genome linkage analysis in a large Brazilian multigenerational family reveals distinct linkage signals for Bipolar Disorder and Depression.
published pages: , ISSN: , DOI: 10.1101/106260
bioRxiv - the preprint server for biology 2019-06-14
2017 Simone de Jong, Mateus Jose Abdalla Diniz, Andiara C Saloma Rodrigues, Ary Gadelha, Marcos L Santoro, Vanessa K Ota, Cristiano Noto, MDD & BIP groups of Psychiatric Genomics Consortiu, Charles Curtis, Hamel Patel, Lynsey S Hall, Paul F O\'Reilly, Sintia I Belangero, Rodrigo Bressan, Gerome Breen
Applying polygenic risk scoring for psychiatric disorders within a family context
published pages: , ISSN: , DOI: 10.1101/103713
bioRxiv - the preprint server for biology 2019-06-14

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The information about "BBFGEN" are provided by the European Opendata Portal: CORDIS opendata.

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