{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T13:11:31Z","timestamp":1784121091255,"version":"3.55.0"},"reference-count":39,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2024,1,22]],"date-time":"2024-01-22T00:00:00Z","timestamp":1705881600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>It has been proven that single-nucleotide polymorphisms (SNPs) in LEP and LEPR genes could predispose individuals to an increased risk of pregnancy adverse outcomes (PAOs) such as recurrent pregnancy loss (RPL) and pre-eclampsia. Preterm birth (PTB) is the leading cause of infant mortality. We decided to investigate the correlation between PTB and LEP and LEPR SNPs. The study cohort included families who underwent spontaneous PTB and control samples of families who had at-term-born (\u226537 weeks of gestational age) children. Swabs were performed by rubbing the sticky end for about 30 s on the gum and on the inside of the cheek, allowing us to collect the flaking cells of the oral mucosa. Genotyping of the three SNPs\u2014LEPRA668G, LEPG2548A and A19G\u2014was carried out via an ARMS-MAMA real-time PCR procedure, as previously described. Regarding LEPG2548A, we found that the most expressed genotype in infants both in the preterm and the at-term group was AG; however, we did not discover any statistically significant difference (p = 0.97). Considering LEPA19G, none among the infants and parents were found to carry the AA genotype. No statistically significant differences were found between children, mothers and fathers belonging to preterm and at-term groups. We did not find a statistically significant association in newborns and their mother, but our results show a statistical correlation with the LEPRA668G genotype GG of the father. This fact can contribute to defining genetic risk factors for PTB. Further studies are certainly needed to better clarify the role of genetics in influencing preterm delivery.<\/jats:p>","DOI":"10.3390\/genes15010139","type":"journal-article","created":{"date-parts":[[2024,1,22]],"date-time":"2024-01-22T12:01:13Z","timestamp":1705924873000},"page":"139","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Leptin and Leptin Receptor Polymorphisms in Infants and Their Parents: Correlation with Preterm Birth"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9163-1016","authenticated-orcid":false,"given":"Francesco","family":"Savino","sequence":"first","affiliation":[{"name":"Early Infancy Special Care Unit, Regina Margherita Children Hospital, A.O.U. Citt\u00e0 della Salute e della Scienza di Torino, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allegra","family":"Sardo","sequence":"additional","affiliation":[{"name":"Early Infancy Special Care Unit, Regina Margherita Children Hospital, A.O.U. Citt\u00e0 della Salute e della Scienza di Torino, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Gambarino","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, Immunopathology Laboratory, Medical School, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maddalena","family":"Dini","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, Immunopathology Laboratory, Medical School, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Clemente","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, Immunopathology Laboratory, Medical School, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pau","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, Immunopathology Laboratory, Medical School, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Galliano","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, Immunopathology Laboratory, Medical School, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9291-1332","authenticated-orcid":false,"given":"Massimiliano","family":"Bergallo","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, Immunopathology Laboratory, Medical School, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Seoane-Collazo, P., Mart\u00ednez-S\u00e1nchez, N., Milbank, E., and Contreras, C. (2020). Incendiary Leptin. Nutrients, 12.","DOI":"10.3390\/nu12020472"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Savino, F., Sardo, A., Rossi, L., Benetti, S., Savino, A., and Silvestro, L. (2016). Mother and Infant Body Mass Index, Breast Milk Leptin and Their Serum Leptin Values. Nutrients, 8.","DOI":"10.3390\/nu8060383"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.cytogfr.2017.03.001","article-title":"Role of leptin as a link between metabolism and the immune system","volume":"35","year":"2017","journal-title":"Cytokine Growth Factor Rev."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1111\/jcmm.13369","article-title":"Leptin action in normal and pathological pregnancies","volume":"22","author":"Toro","year":"2018","journal-title":"J. Cell. Mol. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1093\/humupd\/dmv057","article-title":"Leptin and its potential interest in assisted reproduction cycles","volume":"22","author":"Catteau","year":"2016","journal-title":"Hum. Reprod. Update"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"108041","DOI":"10.1016\/j.diabres.2020.108041","article-title":"Maternal circulating leptin profile during pregnancy and gestational diabetes mellitus","volume":"161","author":"Xiao","year":"2020","journal-title":"Diabetes Res. Clin. Pract."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"bqaa204","DOI":"10.1210\/endocr\/bqaa204","article-title":"The Importance of Leptin to Reproduction","volume":"162","author":"Childs","year":"2021","journal-title":"Endocrinology"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1051\/jbio\/2018020","article-title":"Trafic et signalisation du r\u00e9cepteur de la leptine [Traffic and signalisation of the leptin receptor]","volume":"212","author":"Dam","year":"2018","journal-title":"Biol. Aujourdhui"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"155341","DOI":"10.1016\/j.cyto.2020.155341","article-title":"Leptin receptor stimulation in late pregnant mouse uterine tissue inhibits spontaneous contractions by increasing NO and cGMP","volume":"137","author":"Srinivasan","year":"2021","journal-title":"Cytokine"},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Saad, A., Adam, I., Elzaki, S.E.G., Awooda, H.A., and Hamdan, H.Z. (2020). Leptin receptor gene polymorphisms c.668A>G and c.1968G>C in Sudanese women with preeclampsia: A case-control study. BMC Med. Genet., 21.","DOI":"10.1186\/s12881-020-01104-z"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/S2352-4642(21)00311-4","article-title":"Global, regional, and national causes of under-5 mortality in 2000\u201319: An updated systematic analysis with implications for the Sustainable Development Goals","volume":"6","author":"Perin","year":"2022","journal-title":"Lancet Child Adolesc. Health"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"e37","DOI":"10.1016\/S2214-109X(18)30451-0","article-title":"Global, regional, and national estimates of levels of preterm birth in 2014: A systematic review and modelling analysis","volume":"7","author":"Chawanpaiboon","year":"2019","journal-title":"Lancet Glob. Health"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"3410","DOI":"10.1007\/s43032-023-01287-9","article-title":"The Role of Genetics in Preterm Birth","volume":"30","author":"Mead","year":"2023","journal-title":"Reprod. Sci."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.gene.2016.07.014","article-title":"Maternal and neonatal leptin and leptin receptor polymorphisms associated with preterm birth","volume":"591","author":"Salem","year":"2016","journal-title":"Gene"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1159\/000444484","article-title":"Mismatch Amplification Mutation Assay Real-Time PCR Analysis of the Leptin Gene G2548A and A19G Polymorphisms and Serum Leptin in Infancy: A Preliminary Investigation","volume":"85","author":"Savino","year":"2016","journal-title":"Horm. Res. Paediatr."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1053\/j.semperi.2017.07.009","article-title":"Epidemiology of preterm birth","volume":"41","author":"Purisch","year":"2017","journal-title":"Semin. Perinatol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.ajog.2013.10.001","article-title":"The contribution of genetic and environmental factors to the duration of pregnancy","volume":"210","author":"York","year":"2014","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1089\/dna.2010.1169","article-title":"Maternal-fetal proinflammatory cytokine gene polymorphism and preterm birth","volume":"31","author":"Verdi","year":"2012","journal-title":"DNA Cell Biol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1095\/biolreprod.105.045120","article-title":"Leptin in pregnancy: An update","volume":"74","author":"Henson","year":"2006","journal-title":"Biol. Reprod."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1034\/j.1600-0412.1998.770304.x","article-title":"Leptin levels in pregnancy: Marker for fat accumulation and mobilization?","volume":"77","author":"Sattar","year":"1998","journal-title":"Acta Obstet. Gynecol. Scand."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1530\/REP-20-0142","article-title":"Crosstalk between estradiol and NF\u03baB signaling pathways on placental leptin expression","volume":"160","author":"Schanton","year":"2020","journal-title":"Reproduction"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.metabol.2014.10.013","article-title":"Roles of leptin in reproduction, pregnancy and polycystic ovary syndrome: Consensus knowledge and recent developments","volume":"64","year":"2015","journal-title":"Metabolism"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1038\/ng0398-213","article-title":"A leptin missense mutation associated with hypogonadism and morbid obesity","volume":"18","author":"Strobel","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"173218","DOI":"10.1155\/2015\/173218","article-title":"Polymorphism in LEP and LEPR May Modify Leptin Levels and Represent Risk Factors for Thyroid Cancer","volume":"2015","author":"Marcello","year":"2015","journal-title":"Int. J. Endocrinol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1080\/07315724.2017.1318723","article-title":"Polymorphisms in Lep and Lepr Genes in Infants: Correlation with Serum Leptin Values in the First 6 Months of Life","volume":"36","author":"Savino","year":"2017","journal-title":"J. Am. Coll. Nutr."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1055\/s-2002-32504","article-title":"Leptin and preeclampsia","volume":"20","author":"Poston","year":"2002","journal-title":"Semin. Reprod. Med."},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Hui, T.J., and Burt, A. (2020). Estimating linkage disequilibrium from genotypes under Hardy-Weinberg equilibrium. BMC Genet., 21.","DOI":"10.1186\/s12863-020-0818-9"},{"key":"ref_28","first-page":"3589","article-title":"The A19G polymorphism in the 5\u2019 untranslated region of the human obese gene does not affect leptin levels in severely obese patients","volume":"85","author":"Lucantoni","year":"2000","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1158\/1055-9965.EPI-14-0173","article-title":"Genetic variation in adipokine genes and associations with adiponectin and leptin concentrations in plasma and breast tissue","volume":"23","author":"Llanos","year":"2014","journal-title":"Cancer Epidemiol. Biomark. Prev."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1093\/humupd\/dmaa010","article-title":"Advanced paternal age is associated with an increased risk of spontaneous miscarriage: A systematic review and meta-analysis","volume":"26","author":"Lashley","year":"2020","journal-title":"Hum. Reprod. Update"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1002\/ibd.21120","article-title":"Relationships between inflammatory bowel disease and perinatal factors: Both maternal and paternal disease are related to preterm birth of offspring","volume":"16","author":"Bengtson","year":"2010","journal-title":"Inflamm. Bowel. Dis."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1007\/s00404-020-05712-1","article-title":"Adverse birth outcome across the generations: The contribution of paternal factors","volume":"302","author":"Tullius","year":"2020","journal-title":"Arch. Gynecol. Obstet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"2207708","DOI":"10.1080\/14767058.2023.2207708","article-title":"Association between genetic polymorphisms of leptin receptor and preeclampsia in Chinese women","volume":"36","author":"Zeng","year":"2023","journal-title":"J. Matern. Fetal Neonatal Med."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.clp.2013.05.002","article-title":"Biological and neurodevelopmental implications of neonatal pain","volume":"40","author":"Walker","year":"2013","journal-title":"Clin. Perinatol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.pain.2010.04.004","article-title":"Cerebral processing of pain in school-aged children with neonatal nociceptive input: An exploratory fMRI study","volume":"150","author":"Hohmeister","year":"2010","journal-title":"Pain"},{"key":"ref_36","first-page":"114","article-title":"Use of buccal swab as a source of genomic DNA for genetic screening in patients with age-related macular degeneration","volume":"48","author":"Xu","year":"2012","journal-title":"Chin. J. Ophthalmol."},{"key":"ref_37","first-page":"151","article-title":"A non-invasive method for detecting mitochondrial tRNAThr15927G>A mutation","volume":"41","author":"Tang","year":"2021","journal-title":"J. South. Med. Univ."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"22231","DOI":"10.1038\/s41598-020-79297-9","article-title":"Molecular detection of Mycobacterium tuberculosis from buccal swabs among adult in Peru","volume":"10","author":"Mesman","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/cphy.c160041","article-title":"Leptin Function and Regulation","volume":"8","author":"Zhang","year":"2017","journal-title":"Compr. Physiol."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/15\/1\/139\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T13:47:29Z","timestamp":1760104049000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/15\/1\/139"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,22]]},"references-count":39,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,1]]}},"alternative-id":["genes15010139"],"URL":"https:\/\/doi.org\/10.3390\/genes15010139","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,22]]}}}