{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T23:10:03Z","timestamp":1750806603914,"version":"3.41.0"},"reference-count":0,"publisher":"Termedia Sp. z.o.o.","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arch Med Sci"],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Gestational diabetes mellitus (GDM) and hypothyroidism are common pregnancy-related disorders that may have a genetic background. The hexokinase domain containing 1 (HKDC1) gene is involved in glucose metabolism, and its variants may influence thyroid function by modulating metabolic pathways. This interaction could contribute to the development of thyroid dysfunction.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and methods<\/jats:title><jats:p>A total of 20 healthy pregnant controls, 20 pregnant women with GDM, and 19 pregnant women with hypothyroidism were genotyped for the HKDC1 gene polymorphisms rs1076224, rs4746822, rs2394529, and rs9645501.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Statistically significant differences were found in the genotype distribution of the HKDC1 rs1076224 polymorphism in the dominant model (G\/G vs. A\/G + A\/A) between women with and without GDM (p = 0.039). Additionally, the HKDC1 rs4746822 polymorphism showed significant differences in both the codominant (p = 0.044) and overdominant \n(p = 0.014) models between hypothyroid and non-hypothyroid pregnant women. The rs2394529 polymorphism also demonstrated significant differences in the overdominant model (C\/C + G\/G vs. C\/G, p = 0.032) between hypothyroid and non-hypothyroid groups. However, no differences were observed in the genotype or allele frequencies of the HKDC1 rs9645501 variant across the study groups.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study suggests a potential genetic association between HKDC1 polymorphisms and the risk of GDM and hypothyroidism in pregnancy. The findings highlight rs1076224 as a significant marker for GDM susceptibility, and rs4746822 and rs2394529 as potential markers for hypothyroidism. Further large-scale studies are needed to confirm these associations and understand their clinical implications.<\/jats:p><\/jats:sec>","DOI":"10.5114\/aoms\/205736","type":"journal-article","created":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T22:33:21Z","timestamp":1750804401000},"source":"Crossref","is-referenced-by-count":0,"title":["Impact of HKDC1 Genetic Variants on Gestational Diabetes and Hypothyroidism in Pregnancy - A Pilot Study"],"prefix":"10.5114","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5260-7870","authenticated-orcid":false,"given":"Katarzyna","family":"Gawlik","sequence":"first","affiliation":[{"name":"Department of Clinical Biochemistry, Jagiellonian University Medical College, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2452-0193","authenticated-orcid":false,"given":"Tomasz","family":"Milewicz","sequence":"additional","affiliation":[{"name":"Chair of Gynecology and Obstetrics, Jagiellonian University Medical College, Poland"},{"name":"Department of Gynecology and Endocrinology, University Hospital, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2553-272X","authenticated-orcid":false,"given":"Barbara","family":"Zapa\u0142a","sequence":"additional","affiliation":[{"name":"Center for Innovative Medical Education, Jagiellonian University Medical College, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6345-9973","authenticated-orcid":false,"given":"Dorota","family":"Pawlica","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry, Jagiellonian University Medical College, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4645-8730","authenticated-orcid":false,"given":"Monika","family":"Piwowar","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics and Telemedicine, Jagiellonian University Medical College, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0121-8154","authenticated-orcid":false,"given":"Bogdan","family":"Solnica","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry, Jagiellonian University Medical College, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3061","published-online":{"date-parts":[[2025,6,24]]},"container-title":["Archives of Medical Science"],"original-title":[],"link":[{"URL":"https:\/\/www.archivesofmedicalscience.com\/pdf-205736-126416","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.archivesofmedicalscience.com\/pdf-205736-126416","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T22:33:23Z","timestamp":1750804403000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.archivesofmedicalscience.com\/Impact-of-HKDC1-Genetic-Variants-on-Gestational-Diabetes-and-Hypothyroidism-in-Pregnancy,205736,0,2.html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,24]]},"references-count":0,"alternative-id":["205736"],"URL":"https:\/\/doi.org\/10.5114\/aoms\/205736","relation":{},"ISSN":["1734-1922","1896-9151"],"issn-type":[{"value":"1734-1922","type":"print"},{"value":"1896-9151","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,24]]}}}