A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy.
Claudia Tamar SilvaIrina V ZorkoltsevaMaartje N NiemeijerMarten E van den BergNajaf AminAyşe DemirkanElisa van LeeuwenAdriana I IglesiasLaura B Piñeros-HernándezCarlos M RestrepoJan A KorsAnatoly V KirichenkoRob WillemsenBen A OostraBruno H StrickerAndré G UitterlindenTatiana I AxenovichCornelia M van DuijnAaron IsaacsPublished in: BMC medical genomics (2018)
We did not find common SNPs explaining these linkage signals. Exome sequencing uncovered a relatively rare variant in MAPK3K11 on chromosome 11 (MAF = 0.01) that helped account for the suggestive linkage peak observed for the first principal component. Conditional analysis revealed a drop in LOD from 2.01 to 0.88 for MAP3K11, suggesting that this variant may partially explain the linkage signal at this chromosomal location. MAP3K11 is related to the JNK pathway and is a pro-apoptotic kinase that plays an important role in the induction of cardiomyocyte apoptosis in various pathologies, including LVH.
Keyphrases
- genome wide
- copy number
- cell death
- left ventricular
- high density
- hiv testing
- signaling pathway
- oxidative stress
- dna methylation
- single cell
- heart failure
- men who have sex with men
- anti inflammatory
- gene expression
- acute myocardial infarction
- endothelial cells
- hepatitis c virus
- pi k akt
- hiv infected
- transcatheter aortic valve replacement
- hypertrophic cardiomyopathy
- antiretroviral therapy
- human immunodeficiency virus
- ejection fraction