Variations in WNT3 gene are associated with incidence of non-syndromic cleft lip with or without cleft palate in a northeast Chinese population.
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect. Several WNT genes are involved in craniofacial embryogenesis, and therefore may play an important role in the etiology of NSCL/P. Two SNPs (rs3809857 and rs9890413) in the WNT3 gene were subjected to case-control and case-parent analysis by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 236 unrelated patients with NSCL/P, including 128 elementary families (185 mothers and 154 fathers), and 400 control individuals from northeast China. The rs3809857 SNP, under the assumption of a dominant model, was found to induce a 2-fold lower risk of NSCL/P ORGG vs GT + TT = 0.605, 95%CI = 0.436-0.839, P = 0.003). Moreover, the family-based association test revealed an under-transmission for the minor allele T. On the other hand, we observed a significant association in the case-control and case-parent analysis of the SNP rs9890413. In addition, the P values for the haplotype of rs3809857-rs9890413 were observed to be statistically significant (P = 0.004). In conclusion, our study confirmed the association between the WNT3 variant and NSCL/P in the population tested.
Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning, Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
Y P
YP
Lu
Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning, Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China hwtzzf@sohu.com.
W T
WT
Han
Department of Oral Maxillofacial Surgery and Plastic Surgery, School of Stomatology, China Medical University, Shenyang, China.
Q
Q
Liu
Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning, Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
J X
JX
Li
Department of Oral Maxillofacial Surgery and Plastic Surgery, School of Stomatology, China Medical University, Shenyang, China.
Z J
ZJ
Li
Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning, Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
M
M
Jiang
Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning, Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
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W
Xu
D000483:Alleles; D044466:Asian People / Q000235:genetics; D001921:Brain / Q000002:abnormalities*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D002971:Cleft Lip / Q000453:epidemiology / Q000235:genetics*; D002972:Cleft Palate / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006239:Haplotypes; D006801:Humans; D015994:Incidence; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D060508:Wnt3 Protein / Q000235:genetics*
C555507:WNT3 protein, human; D060508:Wnt3 Protein