{"entity": "publication", "iuid": "11b8839fb4694d75bc19aab767987019", "timestamp": "2026-08-08T03:35:47.735Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/11b8839fb4694d75bc19aab767987019.json"}, "display": {"href": "https://publications.scilifelab.se/publication/11b8839fb4694d75bc19aab767987019"}}, "title": "X-chromosome variants are associated with aldosterone producing adenomas.", "authors": [{"family": "Dutta", "given": "Ravi Kumar", "initials": "RK"}, {"family": "Larsson", "given": "Malin", "initials": "M"}, {"family": "Arnesen", "given": "Thomas", "initials": "T"}, {"family": "Heie", "given": "Anette", "initials": "A"}, {"family": "Walz", "given": "Martin", "initials": "M"}, {"family": "Alesina", "given": "Piero", "initials": "P"}, {"family": "Gimm", "given": "Oliver", "initials": "O"}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}], "type": "journal article", "published": "2021-05-18", "journal": {"title": "Sci Rep", "issn": "2045-2322", "issn-l": "2045-2322", "volume": "11", "issue": "1", "pages": "10562"}, "abstract": "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 = 1 \u00d7 10-7) 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, p < 0.0005). We sequenced an adjacent gene, MAGEE1, of the sentinel SNP and identified a rare variant in one APA, p.Gly327Glu, which is complementary to other mutations in our primary cohort. Expression quantitative trait loci (eQTL) were investigated on the X-chromosome, and 24 trans-eQTL were identified. Some of the genes identified by trans-eQTL point towards a novel mechanistic explanation for the association of the SNPs with APAs. In conclusion, our study provides further insights into the genetic basis of APAs.", "doi": "10.1038/s41598-021-89986-8", "pmid": "34006971", "labels": {"Bioinformatics Support, Infrastructure and Training": "Collaborative", "Bioinformatics Long-term Support WABI": "Collaborative", "Clinical Genomics Link\u00f6ping": "Service", "Bioinformatics Support for Computational Resources": "Service", "Bioinformatics (NBIS)": "Collaborative", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41598-021-89986-8"}, {"db": "pmc", "key": "PMC8131628"}], "notes": [], "created": "2021-09-16T12:45:50.059Z", "modified": "2024-01-16T13:48:39.732Z"}