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Oral treatment of wildtype mice with 2,3-butanediol led to a low cholesterol, low epididymal fat phenotype.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Determine if significant, heterozygous coding variations in human\n                      <jats:italic>FMO5<\/jats:italic>\n                      would give rise to similar clinical and metabolic phenotypes in humans, as in C57BL\/6J mice with knockout of the\n                      <jats:italic>Fmo5<\/jats:italic>\n                      gene and in particular, increased excretion of 2,3-butanediol.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Recruitment of 12 female, Oxford Biobank volunteers with heterozygous coding variations in\n                      <jats:italic>FMO5<\/jats:italic>\n                      , associated with changed clinical traits, and 12 age- and gender-matched controls. Analysis of the key NMR-based, urine and plasma, metabolic phenotypes of these volunteers to determine if there were any statistically significant differences.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Some clinical parameters of the female volunteers with heterozygous coding variations in\n                      <jats:italic>FMO5<\/jats:italic>\n                      were altered in a direction consistent with our hypothesis viz; lower insulin levels and lower waist circumference, but no consistent elevation of urinary 2,3-butanediol was found in the subjects with heterozygous coding variations in\n                      <jats:italic>FMO5<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Heterozygous coding variations in human\n                      <jats:italic>FMO5<\/jats:italic>\n                      appeared to have some impact on the clinical phenotype of the females in this study but the natural variation in the levels of 2,3-butanediol was higher than any inter-group differences between women with heterozygous coding variations in human\n                      <jats:italic>FMO5<\/jats:italic>\n                      and the women in the control group with wildtype\n                      <jats:italic>FMO5<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s11306-025-02308-1","type":"journal-article","created":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T10:43:05Z","timestamp":1757414585000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and metabolic phenotypes of Oxford Biobank subjects with variations in human flavin-containing monooxygenase 5 (FMO5)"],"prefix":"10.1007","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1550-4482","authenticated-orcid":false,"given":"Jeremy R.","family":"Everett","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2751-1770","authenticated-orcid":false,"given":"Fredrik","family":"Karpe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrien","family":"Le Guennec","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matt","family":"Neville","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Redfield","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,9,9]]},"reference":[{"issue":"34","key":"2308_CR1","doi-asserted-by":"publisher","first-page":"14728","DOI":"10.1073\/pnas.0904489106","volume":"106","author":"TA Clayton","year":"2009","unstructured":"Clayton, T. 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