Project description:Nonsyndromic cleft lip with or without palate (NSCL/P) are common birth defects of complex etiology. Multiple interacting loci with possible additional environment factors influence the risk for NSCL/P. 12 single nucleotide polymorphisms (SNPs) in 7 candidate genes were tested using an allele-specific primer extension for both case-control and case-parents analyses in northeast China (236 unrelated patients, 185 mothers and 154 fathers, including 128 complete trios, 400 control individuals). TGFA and IRF6 genes showed a significant associations with NSCL/P. For IRF6, statistical evidence of association between rs2235371 (P=0.003), rs2013162 (P=0.000) and NSCL/P was found in case-control analyses. The Family Based Association Tests (FBAT) showed an over-transmission for C allele of rs2235371 polymorphic (p=0.007). For TGFA, associations between rs3771494, rs3771523 (G3822A), rs11466285 (T3851C) and NSCL/P could be observed both in case-control and FBAT analyses. However, we found no associations between other genes (BCL3, TGFB3, MTHFR1, PVRL1 and SUMO1) and NSCL/P. In the study present, 236 unrelated patient with NSCL/P addition with 185 mothers and 154 fathers and 400 control individuals were tested with the allele special primer extension microarray.
Project description:Nonsyndromic cleft lip with or without palate (NSCL/P) are common birth defects of complex etiology. Multiple interacting loci with possible additional environment factors influence the risk for NSCL/P. 12 single nucleotide polymorphisms (SNPs) in 7 candidate genes were tested using an allele-specific primer extension for both case-control and case-parents analyses in northeast China (236 unrelated patients, 185 mothers and 154 fathers, including 128 complete trios, 400 control individuals). TGFA and IRF6 genes showed a significant associations with NSCL/P. For IRF6, statistical evidence of association between rs2235371 (P=0.003), rs2013162 (P=0.000) and NSCL/P was found in case-control analyses. The Family Based Association Tests (FBAT) showed an over-transmission for C allele of rs2235371 polymorphic (p=0.007). For TGFA, associations between rs3771494, rs3771523 (G3822A), rs11466285 (T3851C) and NSCL/P could be observed both in case-control and FBAT analyses. However, we found no associations between other genes (BCL3, TGFB3, MTHFR1, PVRL1 and SUMO1) and NSCL/P.