Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population

作者:Bu, Lingxue; Chen, Qianqian; Wang, Hong*; Zhang, Tianxiao; Hetmanski, Jacqueline B.; Schwender, Holger; Parker, Margaret; Chou, Yah-Huei Wu; Yeow, Vincent; Chong, Samuel S.; Zhang, Bo; Jabs, Ethylin Wang; Scott, Alan F.; Beaty, Terri H.
来源:Birth Defects Research Part A: Clinical and Molecular Teratology , 2015, 103(10): 857-862.
DOI:10.1002/bdra.23413

摘要

BACKGROUNDThe forkhead box F2 gene (FOXF2) located in chromosome 6p25.3 has been shown to play a crucial role in palatal development in mouse and rat models. To date, no evidence of linkage or association has been reported for this gene in humans with oral clefts. @@@ METHODSAllelic transmission disequilibrium tests were used to robustly assess evidence of linkage and association with nonsyndromic cleft lip with or without cleft palate for nine single nucleotide polymorphisms (SNPs) in and around FOXF2 in both Asian and European trios using PLINK. @@@ RESULTSStatistically significant evidence of linkage and association was shown for two SNPs (rs1711968 and rs732835) in 216 Asian trios where the empiric P values with permutation tests were 0.0016 and 0.005, respectively. The corresponding estimated odds ratios for carrying the minor allele at these SNPs were 2.05 (95% confidence interval = 1.41, 2.98) and 1.77 (95% confidence interval = 1.26, 2.49), respectively. @@@ CONCLUSIONOur results provided statistical evidence of linkage and association between FOXF2 and nonsyndromic cleft lip with or without cleft palate. Birth Defects Research (Part A) 103:857-862, 2015.