{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T20:04:43Z","timestamp":1777579483507,"version":"3.51.4"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,4,21]],"date-time":"2012-04-21T00:00:00Z","timestamp":1334966400000},"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":[[2012,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Nonsyndromic cleft lip with or without cleft palate (NSCL\/P) is a common congenital malformation associated with genetic and environmental risk factors. A recent genome\u2010wide association study identified two novel susceptibility loci on chromosomes 1p22 and 20q12; however, conflicting results, especially for 1p22, have been reported in Han Chinese population. The aims of this study were to replicate this association with risk of NSCL\/P in the southern Han Chinese population and to discern the effect of these loci by a meta\u2010analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>To this end, 305 patients with NSCL\/P, 356 phenotypically normal controls, and an additional 176 case\u2010parent trios were recruited. Four of the previously associated single nucleotide polymorphisms (SNPs) were genotyped by matrix\u2010assisted laser desorption\/ionization time\u2010of\u2010flight mass spectrometry. Furthermore, two published datasets were combined with the present results to determine the precise roles of the loci.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>SNPs (rs6072081, rs13041247, and rs6102085) on 20q12 were found to be strongly associated with NSCL\/P (Bonferroni\u2010corrected and \u03c7<jats:sup>2<\/jats:sup> test; <jats:italic>p<\/jats:italic> values &lt; 0.05). Subsequent analysis of the case\u2010parent trio provided similar results. However, neither the association study nor the trio analysis supported a causative role for SNP rs560426 on 1p22 in NSCL\/P susceptibility. Stratified meta\u2010 analysis combining Chinese samples supported our findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS<\/jats:title><jats:p>This cross\u2010validation study confirmed the previous findings that SNPs in 20q12 are associated with NSCL\/P in Han Chinese population. We further conclude that rs560426 on 1p22 might not have a major influence on susceptibility to NSCL\/P in southern Han Chinese, but future studies with other Han Chinese populations are needed. Birth Defects Research (Part A) 2012. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23013","type":"journal-article","created":{"date-parts":[[2012,4,21]],"date-time":"2012-04-21T16:19:42Z","timestamp":1335025182000},"page":"469-476","source":"Crossref","is-referenced-by-count":14,"title":["Association between single\u2010nucleotide polymorphisms on chromosome 1p22 and 20q12 and nonsyndromic cleft lip with or without cleft palate: New data in Han Chinese and 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