{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T11:20:29Z","timestamp":1785410429461,"version":"3.56.0"},"reference-count":37,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T00:00:00Z","timestamp":1781740800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI22\/00498"],"award-info":[{"award-number":["PI22\/00498"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"award":["PI22\/00498"],"award-info":[{"award-number":["PI22\/00498"]}],"id":[{"id":"https:\/\/ror.org\/00ca2c886","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Carlos III Institute of Health","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>DLK1 is a paternally expressed gene encoding a transmembrane protein belonging to the Delta-Notch signaling family, increasingly recognized for its role in fetal growth regulation. This study explores the relationship between DLK1 genetic variants (SNV) and birth weight and the potential sex-specific differences in this association. This cross-sectional study consists of a sample of 949 participants (499 males and 450 females) with available birth weight information obtained from official birth certificates. Five DLK1 SNVs located within or near the DLK1 gene (rs1802710, rs876374, rs7155375, rs57098752, and rs7149242) were genotyped using Real-Time PCR with predesigned TaqMan\u2122 Assays. Three SNVs (rs1802710, rs876374 and rs7149242) were significantly associated with birth weight in males, but not in females. Interestingly, heterozygous males had a higher mean birth weight than homozygous males. Further confirming this association, heterozygotes for these SNVs were more frequent among males with birth weight above the population mean (3.4 kg) compared to those below it. DLK1 variants are associated with birth weight in a sex-dependent manner and with an inheritance pattern compatible with polar overdominance. This places DLK1 as a genetic factor to be considered when evaluating health conditions related to higher or lower than normal birth weight.<\/jats:p>","DOI":"10.3390\/ijms27125524","type":"journal-article","created":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T14:37:42Z","timestamp":1781879862000},"page":"5524","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Polar Overdominance Inheritance of DLK1 Variants Is Associated with Birth Weight in a Sex-Specific Manner"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-1315-9848","authenticated-orcid":false,"given":"Olga","family":"Pomares","sequence":"first","affiliation":[{"name":"Lipid Research Laboratory, Instituto de Investigaci\u00f3n Sanitaria Fundaci\u00f3n Jim\u00e9nez D\u00edaz (IIS-FJD, UAM), 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris","family":"P\u00e9rez-Nadador","sequence":"additional","affiliation":[{"name":"Lipid Research Laboratory, Instituto de Investigaci\u00f3n Sanitaria Fundaci\u00f3n Jim\u00e9nez D\u00edaz (IIS-FJD, UAM), 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco J.","family":"Mejorado-Molano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Instituto de Investigaci\u00f3n Sanitaria Fundaci\u00f3n Jim\u00e9nez D\u00edaz (IIS-FJD, UAM), 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Parra-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Instituto de Investigaci\u00f3n Sanitaria Fundaci\u00f3n Jim\u00e9nez D\u00edaz (IIS-FJD, UAM), 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4268-8870","authenticated-orcid":false,"given":"Leandro","family":"Soriano-Guill\u00e9n","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Instituto de Investigaci\u00f3n Sanitaria Fundaci\u00f3n Jim\u00e9nez D\u00edaz (IIS-FJD, UAM), 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge","family":"Laborda","sequence":"additional","affiliation":[{"name":"Department of Inorganic and Organic Chemistry and Biochemistry, Pharmacy School, University of Castilla-La Mancha, 02008 Albacete, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1099-2061","authenticated-orcid":false,"given":"Carmen","family":"Garc\u00e9s","sequence":"additional","affiliation":[{"name":"Lipid Research Laboratory, Instituto de Investigaci\u00f3n Sanitaria Fundaci\u00f3n Jim\u00e9nez D\u00edaz (IIS-FJD, UAM), 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1136\/bmj.301.6761.1111","article-title":"The fetal and infant origins of adult disease","volume":"301","author":"Barker","year":"1990","journal-title":"BMJ"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"244","DOI":"10.7150\/ijbs.5.244","article-title":"Birth weight and coronary artery disease. 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