[Association between single nucleotide polymorphisms of v-maf musculoaponeurotic fibrosarcoma oncogene homolog B gene and non-syndromic cleft lip with or without cleft palate].
OBJECTIVE
To reveal the association between the single nucleotide polymorphism (SNP) of v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB) gene rs17820943 locus and non-syndromic cleft lip with or without cleft palate (NSCL/P) in the southern Chinese Han population.


METHODS
Genotyping of MAFB gene rs17820943 polymorphism was carried out in 300 patients with NSCL/P, 354 normal controls, and an additional 168 case-parent trios with matrix-assisted laser desorption/ionisation time-of-flight (MALDI-TOF) mass spectrometry. Then based on the genotyping results, both a case-control association study and a case-parent trio association study were performed.


RESULTS
Significant differences were found in the allele and genotype frequencies of rs17820943 locus between case and control groups (Pallele = 0.001 and Pgenotype = 0.002, respectively). To be specific, the odds radio (OR) values and 95% confidence interval (95% CI) of allele T (frequencies of cases:controls = 0.358:0.448) and genotype TT (frequencies of cases:controls = 0.110:0.195) were ORT = 0.69 (95% CI: 0.55-0.86) and OR(TT) = 0.43 (95% CI: 0.26-0.70), respectively. Subsequent case-parent trio analysis also indicated an association between MAFB rs17820943 variant and the risk of NSCL/P (ORT(T vs. C) = 0.55, 95% CI: 0.41-0.75, P value of transmission disequilibrium test was 0.000).


CONCLUSIONS
Polymorphism of MAFB gene rs17820943 locus is associated with NSCL/P in the southern Chinese Han population; MAFB rs17820943 variant may be a susceptible gene of NSCL/P.
Department of Infectious Disease, Second Affiliated Hospital, Shantou University Medical College, Shantou Guangdong, 515041, PR China.
Hongqiu
H
Cheng
Enmin
E
Huang
Shijie
S
Tang
Mingyan
M
Xu
Shenyou
S
Shu
D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002681:China / Q000453:epidemiology; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D005354:Fibrosarcoma / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D051258:MafB Transcription Factor / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
C490407:MAFB protein, human; D051258:MafB Transcription Factor; D004247:DNA