{"entity": "researcher", "timestamp": "2026-08-18T02:08:48.172Z", "family": "Persson", "given": "Johan", "initials": "J", "orcid": "0000-0002-7766-8557", "affiliations": ["Department of Clinical Sciences, Pediatrics Ume\u00e5 University Ume\u00e5 Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/c2fa75a108224641aad4ffb712795f10.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/c2fa75a108224641aad4ffb712795f10"}}, "publications": [{"entity": "publication", "iuid": "449ca49a08eb4b9b9bd0808a212bafa6", "links": {"self": {"href": "https://publications.scilifelab.se/publication/449ca49a08eb4b9b9bd0808a212bafa6.json"}, "display": {"href": "https://publications.scilifelab.se/publication/449ca49a08eb4b9b9bd0808a212bafa6"}}, "title": "To Modify or Not to Modify: Allele-Specific Effects of 3'UTR-KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant-Negative Mutation.", "authors": [{"family": "Winbo", "given": "Annika", "initials": "A", "orcid": "0000-0002-9323-3166", "researcher": {"href": "https://publications.scilifelab.se/researcher/401c5b247a024c7689b813b7f805ab30.json"}}, {"family": "Diamant", "given": "Ulla-Britt", "initials": "UB", "orcid": "0000-0002-1811-225X", "researcher": {"href": "https://publications.scilifelab.se/researcher/f7fb5d72f0e143b796e5c6a3ba8a9100.json"}}, {"family": "Persson", "given": "Johan", "initials": "J", "orcid": "0000-0002-7766-8557", "researcher": {"href": "https://publications.scilifelab.se/researcher/c2fa75a108224641aad4ffb712795f10.json"}}, {"family": "Jensen", "given": "Steen M", "initials": "SM", "orcid": "0000-0001-5275-2544", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c12896ee2d441ea9a447fb4b5a1f481.json"}}, {"family": "Rydberg", "given": "Annika", "initials": "A", "orcid": "0000-0001-9655-7783", "researcher": {"href": "https://publications.scilifelab.se/researcher/b480e96400f743ac97d1f050672c9b34.json"}}], "type": "journal article", "published": "2022-09-20", "journal": {"title": "J Am Heart Assoc", "issn": "2047-9980", "volume": "11", "issue": "18", "pages": "e025981", "issn-l": "2047-9980"}, "abstract": "Background There are conflicting reports with regard to the allele-specific gene suppression effects of single nucleotide polymorphisms (SNPs) in the 3'untranslated region (3'UTR) of the KCNQ1 gene in long QT syndrome type 1 (LQT1) populations. Here we assess the allele-specific effects of 3 previously published 3'UTR-KCNQ1's SNPs in a LQT1 founder population segregating a dominant-negative mutation. Methods and Results Bidirectional sequencing of the KCNQ1's 3'UTR was performed in the p.Y111C founder population (n=232, 147 genotype positive), with a minor allele frequency of 0.1 for SNP1 (rs2519184) and 0.6 for linked SNP2 (rs8234) and SNP3 (rs107980). Allelic phase was assessed in trios aided by haplotype data, revealing a high prevalence of derived SNP2/3 in cis with p.Y111C (89%). Allele-specific association analyses, corrected using a relatedness matrix, were performed between 3'UTR-KCNQ1 SNP genotypes and clinical phenotypes. SNP1 in trans was associated with a significantly higher proportion of symptomatic phenotype compared with no derived SNP1 allele in trans (58% versus 32%, corrected P=0.027). SNP2/3 in cis was associated with a significantly lower proportion of symptomatic phenotype compared with no derived SNP2/3 allele in cis (32% versus 69%, corrected P=0.010). Conclusions Allele-specific modifying effects on symptomatic phenotype of 3'UTR-KCNQ1 SNPs rs2519184, rs8234, and rs107980 were seen in a LQT1 founder population segregating a dominant-negative mutation. The high prevalence of suppressive 3'UTR-KCNQ1 SNPs segregating with the founder mutation could contribute to the previously documented low incidence of cardiac events in heterozygous carriers of the p.Y111C KCNQ1 mutation.", "doi": "10.1161/JAHA.122.025981", "pmid": "36102229", "labels": {"Clinical Genomics Ume\u00e5": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9683681"}], "notes": [], "created": "2022-12-05T11:17:59.491Z", "modified": "2022-12-05T11:17:59.680Z"}]}