X-chromosome variants are associated with aldosterone producing adenomas
| Autor: | Peter Söderkvist, Piero F. Alesina, Oliver Gimm, Malin Larsson, Ravi Kumar Dutta, Thomas Arnesen, Anette Heie, Martin K. Walz |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Adenoma Male Science Quantitative Trait Loci education Medizin Single-nucleotide polymorphism Genome-wide association study Nerve Tissue Proteins 030204 cardiovascular system & hematology Biology Genome-wide association studies Polymorphism Single Nucleotide Article Cohort Studies 03 medical and health sciences 0302 clinical medicine mental disorders Genetics SNP Humans Genetic Predisposition to Disease Gene Genotyping Aldosterone X chromosome Germ-Line Mutation Medicinsk genetik Genetic association study Chromosomes Human X Multidisciplinary Chromosome Middle Aged 030104 developmental biology Case-Control Studies Expression quantitative trait loci Medicine Carrier Proteins Medical Genetics psychological phenomena and processes Genome-Wide Association Study |
| Zdroj: | Scientific Reports Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021) |
| Popis: | Aldosterone-producing adenomas (APAs) are a major cause of primary aldosteronism (PA) and are characterized by constitutively producing aldosterone, which leads to hypertension. Several mutations have been identified in ion channels or ion channel-associated genes that result in APAs. To date, no studies have used a genome-wide association study (GWAS) approach to search for predisposing loci for APAs. Thus, we investigated Scandinavian APA cases (n=35) and Swedish controls (n=60) in a GWAS and discovered a susceptibility locus on chromosome Xq13.3 (rs2224095, OR=7.9, 95% CI=2.8-22.4, P=1x10(-7)) in a 4-Mb region that was significantly associated with APA. Direct genotyping of sentinel SNP rs2224095 in a replication cohort of APAs (n=83) and a control group (n=740) revealed persistently strong significance (OR=6.1, 95% CI=3.5-10.6, pFunding Agencies|Linkoping University; ALF Grants (Region Ostergotland); Norwegian Health Authorities of Western Norway [F-12540]; Norwegian Cancer SocietyNorwegian Cancer Society [171752-PR-2009-0222] |
| Databáze: | OpenAIRE |
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