Dissertation
Dissertation > Medicine, health > Oral Sciences > Oral and maxillofacial surgery > Oral and maxillofacial plastic surgery

Associaction between MAFB,IRF6,8q24 and 10q25 Polymorphisms and Nonsyndromic Cleft Lip with or Without Cleft Palate in Southern Han Chinese

Author HeYunPu
Tutor TangShiJie
School Shantou University
Course Burn Plastic Surgery
Keywords NSCL Single nucleotide polymorphisms v-maf musculoaponeurotic fibrosarcoma oncogene homolog B Interferon regulatory factor 6
CLC R782.2
Type Master's thesis
Year 2011
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Background and Purpose NSCL (Nonsyndromic cleft lip with or without cleft palate, NSCL / P) is the most common human congenital malformations, one is a multi-gene interaction of genetic and environmental factors, genetic disease, The pathogenesis is not yet completely clear. The purpose of this research is the study of the MAFB gene of Han population of southern China, the IRF6 gene as well as chromosome 8q24 and 10q25 on the six single nucleotide polymorphisms (single nucleotide polymorphisms, SNPs) associated with NSCL / P discussed in NSCL / P in the pathogenesis of the role. Materials and Methods The study collected 431 NSCL / P patients and 451 control subjects. MAFB (rs17820943, rs6102085 and rs6072081) and IRF6 rs10863790, are located on chromosome 8q24 rs987525 and 10q25 rs7078160 total of six SNPs for genotyping using TaqMan genotyping technology. The distribution of genotype and allele frequencies of 6 SNPs application of chi-square test evaluation in NSCL / P patients and controls, and to evaluate its association with NSCL / P. Results the MAFB SNPs rs6072081, rs17820943 and rs6102085, and IRF6 SNP rs10863790 with NSCL / P was significantly associated with the incidence of. NSCL / P patients MAFB rs6072081 A allele and AA genotype frequency of the control group compared to higher (P = 0.001 and 0.004, respectively), rs17820943 C allele and CC genotype frequencies with the control group phase than increased (P = 0.001 and 0.002), compared to higher rs6102085 A-allele frequency and AA genotype frequencies with the control group (P = 1.22 × 10 -6 and 1.27 × 10 -5 ); compared to higher NSCL / P patients IRF6 rs10863790 AA genotype frequency of the control group (P = 0.007). 10q25 rs7078160 and 8q24 rs987525 two SNPs found no association between the Han population of southern China NSCL / P. Cleft lip with MAFB rs6072081 in cleft palate patients with the A allele and AA genotype frequencies with the control group compared to the increased (P = 4.52 × 10 -4 and 0.002), rs17820943 of C allele and CC genotype frequencies with the control group compared to higher (P = 6.69 × 10 -5 and 2.43 × 10 -4 -5 and of 1.15 × -4 1.15 × 10 -4 ), rs6072081 A allele frequency in the control group compared to higher (P = 0.069), MAFB rs6072081 rs17820943 and rs6102085 in male patients and female patients relatively undifferentiated (P = 0.626, 0.859 and 0.211, respectively); NSCL / P in male patients IRF6 rs10863790 AA genotype frequency of the control group (P = 0.023) compared to the higher female patients IRF6 rs10863790 AA genotype frequency compared to the control group, no significant difference (P = 0.185) compared to male patients IRF6 rs10863790 A allele frequency of female patients increased (P = 0.034). NSCL / P patients MAFB SNPs (rs6072081-rs17820943-rs6102085) ACA haplotype frequencies with the control group compared to higher (P = 1.623 × 10 -6 ), GTG and ACG haplotype a higher frequency of the control group (P = 0.0015 and 0.0215, respectively). The conclusions in southern China Han population in this study, we found that MAFB and IRF6 SNPs with NSCL / P risk, and there may be a different impact on different subtypes and gender. 1. MAFB rs6072081 A allele and the C allele of rs17820943, rs6102085 A allele and IRF6 rs10863790 A allele was associated with NSCL / P related. 2. MAFB rs6072081, rs17820943 and rs6102085 with cleft lip with cleft palate associated with simple cleft lip and cleft palate; IRF6 rs10863790 associated with simple cleft lip and cleft lip with cleft palate. NSCL / P 3. MAFB rs17820943 and rs6102085 were no gender differences, men and women, MAFB rs6072081 women, men are potentially relevant to NSCL / P; IRF6 rs10863790 gender differences in the associated in men and women. 4. 10q25 rs7078160 and 8q24 rs987525 with NSCL / P found no association. 5. MAFB SNPs (rs6072081-rs17820943-rs6102085) ACA haplotype NSCL / P associated.

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