PMC:5985359 / 2912-3729 JSONTXT

{"project":"2_test","denotations":[{"id":"29526280-20825314-2044755","span":{"begin":393,"end":394},"obj":"20825314"},{"id":"29526280-23185296-2044756","span":{"begin":619,"end":620},"obj":"23185296"},{"id":"29526280-28405024-2044757","span":{"begin":799,"end":801},"obj":"28405024"},{"id":"29526280-26401622-2044758","span":{"begin":803,"end":805},"obj":"26401622"},{"id":"29526280-26200491-2044759","span":{"begin":807,"end":809},"obj":"26200491"},{"id":"29526280-25298419-2044760","span":{"begin":811,"end":813},"obj":"25298419"},{"id":"29526280-24255041-2044761","span":{"begin":815,"end":817},"obj":"24255041"}],"text":"In 2010, a landmark FECD genome-wide association study (GWAS) identified a strong association with common non-coding variants located within the transcription factor encoding gene TCF4 (MIM: 602272). The risk allele of the most highly associated SNP (rs613872) conferred a remarkably high odds ratio (OR) of 5.5 for individuals carrying one copy or an OR of 30 for individuals with two copies.8 Subsequently, the SNP rs613872 was found to be in linkage disequilibrium with CTG18.1, a CTG repeat expansion situated within an intronic region of TCF4, connecting the initial GWAS signal with a putative functional variant.9 This association has now been replicated in a range of ethnically distinct cohorts, supporting the hypothesis that expanded copies of the CTG18.1 repeat are associated with FECD.10, 11, 12, 13, 14"}