{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T19:46:50Z","timestamp":1760298410582},"reference-count":52,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2011,8,24]],"date-time":"2011-08-24T00:00:00Z","timestamp":1314144000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2011,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>BACKGROUND:<\/jats:bold> Nonsyndromic cleft lip with or without cleft palate (NCL\/P) is a common structural malformation with a complex and multifactorial etiology. It has been shown that maternal psychological stress in the periconceptional period can contribute to an increase in the risk of NCL\/P affecting pregnancy. <jats:bold>METHODS:<\/jats:bold> Twenty\u2010four single nucleotide polymorphisms of 11 stress\u2010related genes (<jats:italic>COMT<\/jats:italic>, <jats:italic>CRHR1<\/jats:italic>, <jats:italic>FKBP5<\/jats:italic>, <jats:italic>GABRA6, HSD11\u03b22<\/jats:italic>, <jats:italic>MAOA<\/jats:italic>, <jats:italic>NPY<\/jats:italic>, <jats:italic>NR3C1<\/jats:italic>, <jats:italic>SERPINA6<\/jats:italic>, <jats:italic>SLC6A4<\/jats:italic>, and <jats:italic>TPH2<\/jats:italic>) were investigated in 220 healthy mothers of children with facial clefts and 210 matched controls using restriction fragment\u2010length polymorphism and high\u2010resolution melting analysis. <jats:bold>RESULTS:<\/jats:bold> We found that polymorphisms in <jats:italic>SLC6A4<\/jats:italic>, <jats:italic>TPH2<\/jats:italic>, and <jats:italic>SERPINA6<\/jats:italic> appear to be maternal factors increasing the risk of having a child with facial clefts. The closest correlations with NCL\/P were found for the <jats:italic>SLC6A4<\/jats:italic> rs2020942 and <jats:italic>TPH2<\/jats:italic> rs10879357 gene variants (odds ratio [OR], 1.720; 95% confidence interval [CI], 1.158\u20132.553; <jats:italic>p<\/jats:italic> = 0.0069; <jats:italic>p<\/jats:italic><jats:sub>trend<\/jats:sub> = 0.0036; and OR, 1.837; 95% CI, 1.226\u20132.753, <jats:italic>p<\/jats:italic> = 0.0030, <jats:italic>p<\/jats:italic><jats:sub>trend<\/jats:sub> = 0.0057; respectively). Moreover, haplotype analysis revealed that several combinations of markers in <jats:italic>SLC6A4<\/jats:italic>, <jats:italic>TPH2<\/jats:italic>, and <jats:italic>SERPINA6<\/jats:italic> might be significantly associated with the risk of NCL\/P affected pregnancies. However, these associations were not statistically significant after correction for multiple testing. <jats:bold>CONCLUSION:<\/jats:bold> This study suggests that nucleotide variants of genes encoding components of the hypothalamus\u2010pituitary\u2010adrenal axis and serotoninergic system have a role in the etiology of NCL\/P in the Polish population. <jats:italic>SLC6A4<\/jats:italic>, <jats:italic>TPH2<\/jats:italic>, and <jats:italic>SERPINA6<\/jats:italic> might be novel candidate genes for this common congenital anomaly. Birth Defects Research (Part A), 2011. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/bdra.20843","type":"journal-article","created":{"date-parts":[[2011,9,1]],"date-time":"2011-09-01T01:10:43Z","timestamp":1314839443000},"page":"948-955","source":"Crossref","is-referenced-by-count":11,"title":["Polymorphisms of stress\u2010related genes and the risk of nonsyndromic cleft lip with or without cleft palate"],"prefix":"10.1002","volume":"91","author":[{"given":"Adrianna","family":"Mostowska","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamil K.","family":"Hozyasz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karolina","family":"Wojcicka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margarita","family":"Lianeri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawel P.","family":"Jagodzinski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,8,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)94161-X"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0306-4530(02)00003-3"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.1997.1230939.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004410100408"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2007.06.007"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001648-200001000-00008"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2007.05.046"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M603877200"},{"key":"e_1_2_6_10_1","doi-asserted-by":"crossref","first-page":"1745","DOI":"10.1242\/dev.124.9.1745","article-title":"5\u2010HT2B receptor\u2010mediated serotonin morphogenetic functions in mouse cranial neural crest and myocardiac cells","volume":"124","author":"Choi DS","year":"1997","journal-title":"Development"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0606722104"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/neuro.08.019.2009"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20278"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000216192"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.2527\/2002.8092276x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2933"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lfs.2007.09.034"},{"key":"e_1_2_6_18_1","first-page":"115","article-title":"Pedigree disequilibrium tests for multilocus haplotypes. 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