{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T13:16:12Z","timestamp":1767791772782,"version":"3.49.0"},"reference-count":35,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Physiol."],"abstract":"<jats:sec>\n                    <jats:title>Background\/aims<\/jats:title>\n                    <jats:p>\n                      Vitamin D-dependent rickets type 1A is a rare autosomal recessive disorder caused by pathogenic variants in the\n                      <jats:italic>CYP27B1<\/jats:italic>\n                      gene.\n                      <jats:italic>CYP27B1<\/jats:italic>\n                      encodes for the 1\u03b1-hydroxylase enzyme catalyzing the conversion of 25-hydroxyvitamin D (25(OH)D) to calcitriol, the last step of vitamin D activation. In the Saguenay\u2013Lac-Saint-Jean (SLSJ) region (Quebec, Canada), the\n                      <jats:italic>CYP27B1<\/jats:italic>\n                      c.262delG variant has a carrier rate of 1 in 27 due to a founder effect. This study aimed to characterize the impact of heterozygosity for the\n                      <jats:italic>CYP27B1<\/jats:italic>\n                      c.262delG variant on vitamin D metabolites and the phosphocalcic profile.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Participants from SLSJ were recruited by telephone (n = 36). During an in-person visit, buccal swabs, blood samples, and health and lifestyle information were collected. The\n                      <jats:italic>CYP27B1<\/jats:italic>\n                      c.262delG variant was genotyped using TaqMan assays on DNA from buccal swabs, and participants were grouped as carriers (heterozygous for the variant) and non-carriers. Student\u2019s t-test was applied to compare vitamin D metabolites (25(OH)D and calcitriol), parathormone, alkaline phosphatase (ALP), bone alkaline phosphatase (BAP), ionized calcium, and inorganic phosphorus blood levels between carriers and non-carriers.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Carriers showed significantly higher levels of parathormone, ALP, and BAP compared to non-carriers (p &amp;lt; 0.05). Additionally, 25(OH)D levels were higher in carriers, although the difference did not reach nominal statistical significance (p = 0.056). Calcitriol, ionized calcium, and inorganic phosphorus levels were similar between groups.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Heterozygosity for\n                      <jats:italic>CYP27B1<\/jats:italic>\n                      c.262delG leads to changes on the vitamin D metabolites and the phosphocalcic profile. How these changes impact the risk of other vitamin D deficiency-associated conditions remain unknown.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fphys.2025.1716877","type":"journal-article","created":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T09:07:07Z","timestamp":1767776827000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Heterozygous CYP27B1 c.262delG pathogenic variant and its impact on vitamin D metabolites and phosphocalcic profile in humans"],"prefix":"10.3389","volume":"16","author":[{"given":"Lysanne","family":"Girard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol-Ann","family":"Fortin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosalie","family":"Plourde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e9ronique","family":"Desgagn\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u00e9e","family":"Gu\u00e9rin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Albert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathieu","family":"Desmeules","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrice","family":"Perron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi","family":"Bouchard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,1,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"88","DOI":"10.4274\/jcrpe.2017.S008","article-title":"Genetic causes of rickets","volume":"9","author":"Acar","year":"2018","journal-title":"J. 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