TY - JOUR
T1 - Association between IRF6 SNPs and oral clefts in West China
AU - Huang, Y.
AU - Wu, J.
AU - Ma, J.
AU - Beaty, T. H.
AU - Sull, J. W.
AU - Zhu, L.
AU - Lu, D.
AU - Wang, Y.
AU - Meng, T.
AU - Shi, B.
PY - 2009/8
Y1 - 2009/8
N2 - Analyses of previous data have confirmed the contribution of the IRF6 gene to susceptibility to nonsyndromic oral clefts (NSOC) in some populations. We tested for associations between the rs2013162, rs2235375, and rs2235371 polymorphisms in IRF6 and the risk of NSOC, using both case-parent trio and case-control designs on samples from western China. Our study group consisted of 332 persons with NSOC, their parents (289 mothers and 243 fathers for 206 complete trios for these three SNPs), and 174 control individuals. We found strong evidence of over- and under-transmission of the C allele (the Val allele) at rs2235371, and the C allele at rs2235375 in cleft case-parent trios (P = 0.013 and P = 0.000, respectively). There were significant differences in the frequency distributions of both genotypes and alleles when cases were compared with control infants at rs2235371 and rs2235375. Five specific haplotypes showed significant over- and under-transmission. These results further support a role for IRF6 variants in western Chinese populations. Abbreviations: CL, cleft lip only; CP, cleft palate only; CLP, cleft lip with palate; CL/P, cleft lip with or without palate.
AB - Analyses of previous data have confirmed the contribution of the IRF6 gene to susceptibility to nonsyndromic oral clefts (NSOC) in some populations. We tested for associations between the rs2013162, rs2235375, and rs2235371 polymorphisms in IRF6 and the risk of NSOC, using both case-parent trio and case-control designs on samples from western China. Our study group consisted of 332 persons with NSOC, their parents (289 mothers and 243 fathers for 206 complete trios for these three SNPs), and 174 control individuals. We found strong evidence of over- and under-transmission of the C allele (the Val allele) at rs2235371, and the C allele at rs2235375 in cleft case-parent trios (P = 0.013 and P = 0.000, respectively). There were significant differences in the frequency distributions of both genotypes and alleles when cases were compared with control infants at rs2235371 and rs2235375. Five specific haplotypes showed significant over- and under-transmission. These results further support a role for IRF6 variants in western Chinese populations. Abbreviations: CL, cleft lip only; CP, cleft palate only; CLP, cleft lip with palate; CL/P, cleft lip with or without palate.
KW - Interferon regulatory factor 6 (IRF6)
KW - Oral cleft
KW - Single nucleotide polymorphism (SNP)
KW - West Chinese population
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U2 - 10.1177/0022034509341040
DO - 10.1177/0022034509341040
M3 - Article
C2 - 19734457
AN - SCOPUS:70349337774
SN - 0022-0345
VL - 88
SP - 715
EP - 718
JO - Journal of Dental Research
JF - Journal of Dental Research
IS - 8
ER -