scholarly journals Genome-wide association study of over 40,000 bipolar disorder cases provides novel biological insights

2020 ◽  
Author(s):  
Niamh Mullins ◽  
Andreas J Forstner ◽  
Kevin S O'Connell ◽  
Brandon Coombes ◽  
Jonathan R I Coleman ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Association Study ◽  
Genome Wide Association Study ◽  
High Specificity ◽  
Genome Wide Association ◽  
Channel Blockers ◽  
Risk Alleles ◽  
Genome Wide ◽  
A Genome ◽  
Polygenic Scores

Bipolar disorder (BD) is a heritable mental illness with complex etiology. We performed a genome-wide association study (GWAS) of 41,917 BD cases and 371,549 controls, which identified 64 associated genomic loci. BD risk alleles were enriched in genes in synaptic and calcium signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers and antiepileptics. Integrating eQTL data implicated 15 genes robustly linked to BD via gene expression, including druggable genes such as HTR6, MCHR1, DCLK3 and FURIN. This GWAS provides the best-powered BD polygenic scores to date, when applied in both European and diverse ancestry samples. Together, these results advance our understanding of the biological etiology of BD, identify novel therapeutic leads and prioritize genes for functional follow-up studies.

scholarly journals Genome-wide association study of early-onset bipolar I disorder in the Han Taiwanese population

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Lawrence Shih-Hsin Wu ◽  
Ming-Chyi Huang ◽  
Cathy Shen-Jang Fann ◽  
Hsien-Yuan Lane ◽  
Chian-Jue Kuo ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Association Study ◽  
Early Onset ◽  
Genome Wide Association Study ◽  
Genetic Locus ◽  
Meta Analysis ◽  
Genome Wide Association ◽  
Genome Wide ◽  
A Genome ◽  
Chinese Descent

AbstractThe search for susceptibility genes underlying the heterogeneous bipolar disorder has been inconclusive, often with irreproducible results. There is a hope that narrowing the phenotypes will increase the power of genetic analysis. Early-onset bipolar disorder is thought to be a genetically homogeneous subtype with greater symptom severity. We conducted a genome-wide association study (GWAS) for this subtype in bipolar I (BPI) disorder. Study participants included 1779 patients of Han Chinese descent with BPI disorder recruited by the Taiwan Bipolar Consortium. We conducted phenotype assessment using the Chinese version of the Schedules for Clinical Assessment in Neuropsychiatry and prepared a life chart with graphic depiction of lifetime clinical course for each of the BPI patient recruited. The assessment of onset age was based on this life chart with early onset defined as ≤20 years of age. We performed GWAS in a discovery group of 516 early-onset and 790 non-early-onset BPI patients, followed by a replication study in an independent group of 153 early-onset and 320 non-early-onset BPI patients and a meta-analysis with these two groups. The SNP rs11127876, located in the intron of CADM2, showed association with early-onset BPI in the discovery cohort (P = 7.04 × 10−8) and in the test of replication (P = 0.0354). After meta-analysis, this SNP was demonstrated to be a new genetic locus in CADM2 gene associated with early-onset BPI disorder (P = 5.19 × 10−8).

scholarly journals A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

2017 ◽  
Vol 100 (1) ◽  
pp. 64-74 ◽  
Author(s):  
F. David Carmona ◽  
Augusto Vaglio ◽  
Sarah L. Mackie ◽  
José Hernández-Rodríguez ◽  
Paul A. Monach ◽  
...  
Keyword(s):  
Association Study ◽  
Giant Cell Arteritis ◽  
Giant Cell ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Risk Alleles ◽  
Genome Wide ◽  
A Genome

scholarly journals Mood‐Stabilizing Antiepileptic Treatment Response in Bipolar Disorder: A Genome‐Wide Association Study

2020 ◽  
Vol 108 (6) ◽  
pp. 1233-1242
Author(s):  
Ada Man‐Choi Ho ◽  
Brandon J. Coombes ◽  
Thanh Thanh L. Nguyen ◽  
Duan Liu ◽  
Susan L. McElroy ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Association Study ◽  
Treatment Response ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Antiepileptic Treatment ◽  
Genome Wide ◽  
A Genome

scholarly journals Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium

2020 ◽  
Author(s):  
Therese TRUONG ◽  
Fabienne Lesueur ◽  
Pierre-emmanuel Sugier ◽  
Julie Guibon ◽  
Constance Xhaard ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Differentiated Thyroid Carcinoma ◽  
Incidence Rates ◽  
Genome Wide Association ◽  
European Ancestry ◽  
Risk Alleles ◽  
Genome Wide ◽  
A Genome ◽  
High Incidence

Incidence of differentiated thyroid carcinoma (DTC) varies considerably between ethnic groups, with particularly high incidence rates in Pacific Islanders. Here, we conducted a genome-wide association study (GWAS) involving 1,554 cases/1,973 controls of European ancestry and 301 cases/348 controls of Oceanian ancestry from the EPITHYR consortium. Our results confirmed the association with the known DTC susceptibility loci at 2q35, 8p12, 9q22.33 and 14q13.3 in the European ancestry population and suggested two novel signals at 1p31.3 (rs334729) and 16q23.2 (rs16950982), which were associated with TSH levels in previous GWAS. We additionally replicated an association with 5p15.33 reported previously in Chinese and European populations. Except at 1p31.3, all associations were in the same direction in the population of Oceanian ancestry. The frequency of risk alleles at 2q35, 5p15.33 and 16q23.2 were significantly higher in Oceanians than in Europeans and may explain part of the highest DTC incidence observed in Oceanians.

Sign in / Sign up

Export Citation Format

Share Document