Pregnancy Correlation Study Between The IRF6、RARA Gene And The Environmental Factors Contributing To NSCL/P During Pregnancy

Objective: To investigate the risk factors during pregnancy environmental incidence of nonsyndromic cleft lip with or without cleft palate, to provide reference for reducing the incidence of NSCL/P. To investigate the relationship between single nucleotide polymorphisms of IRF6 gene、RARA gene of NSCL/P.Methods:1.Divided into the case group and the control group.The case group, in oral and maxillofacial Surgery of Affiliated Hospital, is the nonsyndromic cleft lip patients and their mother; the control group is the patients who born in the same period but without cleft lip and their mother. We have both groups fill the Cleft Lip Questionnaire and sign the consent form. We have collected 2ml peripheral venous blood, and analyzed the data. Extract Genome DNA from blood samples of both groups, and conduct PCR amplification for the two loci, IRF6(rs2013162) and RARA(rs2229773), and then operate genotyping and then gene sequencing. Analyze allelomorth and the allele frequency 2.35 oral cavity mucous membrane crack edge have been collected, with 15 mucosa tissues as control group from normal kids. Based on immunohistochemistry, we examined IRF6 and RARA and showed respectively in the case group and the control group. Results:1, In case group, the expression of IRF6 in the limbal tissue from cleft lip and palate compared with the normal control group has increased the crack(P < 0.05), the difference was statistically significant. at the sa me time, the expression of RARA in the limbal tissue from cleft lip and palate compar ed with the normal control group has increased the crack(P < 0.05) the difference was statistically significant. 2, The distribution of IRF6 gene rs(2013162) genotype AC, C C and C allele frequency was significantly different between the NSCL/P group and t he control group(P < 0.05), NSCL/P group, C allele frequency was higher than the co ntrol group(P< 0.05).3, using single factor logistics regression analysis showed that, t he expression and distribution of mother medication history, harmful substances conta ct history, folic acid, passive smoking, culture degree and IRF6 gene in the two groups are different, and the difference was statistically significant(P<0.05), the use of folic acid and pregnancy education were protective factors(OR<1), medication history, his tory of exposure to harmful substances, passive smoking is a risk factor(OR>1)4, The three kinds of genotype,IRF6 AA, AC, CC, and environmental factors interaction anal ysis, the results showed that high expression of IRF6 CC gene type, and passive smok ing can significantly increase the risk of oral cancer, the value of OR was 3.44(2.37,4.98), The risk of nonsyndromic cleft lip and cleft palate in case group is 3.44 times tha n the control group,after influence on age, gender, residence were adjusted, OR value was 3.58(2.45,5.24), IRF6(rs2013162) CC gene high expression and passive smokin g on non integrated type of cleft lip and palate occurrence was interaction. Conclusion:1,Take folic acid during pregnancy,Higher education level of mother,may be the main protcctive factors occur in the region of NSCL/P, medication,Harmful contact substances, Passive smoking may be the main environmental risk factors occur in the region of NSCL/P. 2,The abnormal expression of IRF6 and RARA gene may lead to the occurrence of NSCL/P. 3,There are Iinteraction between allele CC of rs(2013162)and passive smoking.4,There are correlations between allele Cof rs(2013162)locus of IRF6 of NSCL/P...