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The etiology of sporadic KC remains enigmatic despite intensive research in recent decades. The purpose of this study was to examine the relationship between previously highlighted genetic variants associated with KC and sporadic KC in a Swedish cohort.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>A total of 176 patients (age 16\u201370 years) with sporadic KC diagnosed by Scheimpflug-topography (Pentacam) were included. The control group (<jats:italic>n<\/jats:italic>\u2009=\u2009418; age 70 years) was a subsample originating from the Gothenburg H70 Birth Cohort Studies of ageing. Extraction of DNA from blood samples was performed according to standard procedures, and genotyping was performed using competitive allele specific PCR (KASP) technology. A total of 11 single nucleotide polymorphisms (SNPs) were selected for analysis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Statistically significant associations (<jats:italic>p<\/jats:italic>\u2009=\u20090.005) were found between the SNPs rs2721051 and rs9938149 and sporadic KC. These results replicate earlier research that found associations between genetic variants in the <jats:italic>FOXO1<\/jats:italic> and <jats:italic>BANP-ZNF469<\/jats:italic> genes and sporadic KC in other populations.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Genetic variations in the <jats:italic>FOXO1<\/jats:italic> and <jats:italic>BANP-ZNF469<\/jats:italic> genes may be involved in the pathogenesis of sporadic KC.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12886-024-03299-8","type":"journal-article","created":{"date-parts":[[2024,1,24]],"date-time":"2024-01-24T15:03:57Z","timestamp":1706108637000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Genetic variants in the FOXO1 and ZNF469 genes are associated with keratoconus in Sweden: a case-control study"],"prefix":"10.1186","volume":"24","author":[{"given":"Wolf","family":"Wonneberger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertil","family":"Sterner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrika","family":"MacLean","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margareta","family":"Claesson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lena Havstam","family":"Johansson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingmar","family":"Skoog","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine","family":"Zetterberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Zettergren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,1,24]]},"reference":[{"issue":"2","key":"3299_CR1","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1016\/S0886-3350(98)80200-9","volume":"24","author":"YS Rabinowitz","year":"1998","unstructured":"Rabinowitz YS, Rasheed K, Yang H, Elashoff J. 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Written informed consent was obtained from all participants in the study. Blood samples were stored according to the Swedish Biobank Law. All study participants gave written informed consent regarding biobanking.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"36"}}