scholarly journals Implications of genome-wide association studies in novel therapeutics in primary biliary cirrhosis

2014 ◽  
Vol 44 (4) ◽  
pp. 945-954 ◽  
Author(s):  
Marco Carbone ◽  
Ana Lleo ◽  
Richard N. Sandford ◽  
Pietro Invernizzi
Keyword(s):  
Primary Biliary Cirrhosis ◽  
Association Studies ◽  
Genome Wide Association ◽  
Biliary Cirrhosis ◽  
Genome Wide Association Studies ◽  
Novel Therapeutics ◽  
Genome Wide

scholarly journals Genome-Wide Association Studies in Primary Biliary Cirrhosis

2015 ◽  
Vol 35 (04) ◽  
pp. 392-401 ◽  
Author(s):  
Aliya Gulamhusein ◽  
Brian Juran ◽  
Konstantinos Lazaridis
Keyword(s):  
Primary Biliary Cirrhosis ◽  
Association Studies ◽  
Genome Wide Association ◽  
Biliary Cirrhosis ◽  
Genome Wide Association Studies ◽  
Genome Wide

scholarly journals Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data

2016 ◽  
Author(s):  
Daniel S. Tylee ◽  
Jiayin Sun ◽  
Jonathan L. Hess ◽  
Muhammad A. Tahir ◽  
Esha Sharma ◽  
...  
Keyword(s):  
Psychiatric Disorders ◽  
Lupus Erythematosus ◽  
Association Studies ◽  
Genetic Correlations ◽  
Genome Wide Association ◽  
Biliary Cirrhosis ◽  
Genome Wide Association Studies ◽  
Compulsive Disorder ◽  
Genome Wide ◽  
Heritability Estimation

AbstractIndividuals with psychiatric disorders have elevated rates of autoimmune comorbidity and altered immune signaling. It is unclear whether these altered immunological states have a shared genetic basis with those psychiatric disorders. The present study sought to use existing summary-level data from previous genome-wide association studies (GWASs) to determine if commonly varying single nucleotide polymorphisms (SNPs) are shared between psychiatric and immune-related phenotypes. We estimated heritability and examined pair-wise genetic correlations using the linkage disequilibrium score regression (LDSC) and heritability estimation from summary statistics (HESS) methods. Using LDSC, we observed significant genetic correlations between immune-related disorders and several psychiatric disorders, including anorexia nervosa, attention deficit-hyperactivity disorder, bipolar disorder, major depression, obsessive compulsive disorder, schizophrenia, smoking behavior, and Tourette syndrome. Loci significantly mediating genetic correlations were identified for schizophrenia when analytically paired with Crohn’s disease, primary biliary cirrhosis, systemic lupus erythematosus, and ulcerative colitis. We report significantly correlated loci and highlight those containing genome-wide associations and candidate genes for respective disorders. We also used the LDSC method to characterize genetic correlations amongst the immune-related phenotypes. We discuss our findings in the context of relevant genetic and epidemiological literature, as well as the limitations and caveats of the study.

scholarly journals STAT4Gene Polymorphisms Are Associated with Susceptibility and ANA Status in Primary Biliary Cirrhosis

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Satoru Joshita ◽  
Takeji Umemura ◽  
Minoru Nakamura ◽  
Yoshihiko Katsuyama ◽  
Soichiro Shibata ◽  
...  
Keyword(s):  
Primary Biliary Cirrhosis ◽  
Genetic Factors ◽  
Association Studies ◽  
Biliary Cirrhosis ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Risk Alleles ◽  
Genome Wide ◽  
Mitochondrial Antibody

Recent genome-wide association studies suggest that genetic factors contribute to primary biliary cirrhosis (PBC) susceptibility. Although several reports have demonstrated that the interleukin (IL) 12 signaling pathway is involved in PBC pathogenesis, its precise genetic factors have not been fully clarified. Here, we performed an association analysis betweenIL12A,IL12RB, andsignal transducer and activator of transcription 4 (STAT4)genetic variations and susceptibility to PBC. Single nucleotide polymorphisms (SNPs) were genotyped in 395 PBC patients and 458 healthy subjects of Japanese ethnicity and evaluated for associations with PBC susceptibility, anti-nuclear antibody (ANA) status, and anti-mitochondrial antibody (AMA) status. We detected significant associations with PBC susceptibility for severalSTAT4SNPs (rs10168266;P=9.4×10-3, rs11889341;P=1.2×10-3, rs7574865;P=4.0×10-4, rs8179673;P=2.0×10-4, and rs10181656;P=4.2×10-5). Three risk alleles (rs7574865;P=0.040, rs8179673;P=0.032, and rs10181656;P=0.031) were associated with ANA status, but not with AMA positivity. Our findings confirm thatSTAT4is involved in PBC susceptibility and may play a role in ANA status in the Japanese population.

Sign in / Sign up

Export Citation Format

Share Document