| Objectives: To study single nucleotide polymorphisms of interferon regulatory factor6gene in XinJiangUygurs and Hans with non-syndromic cleft lip with or without cleft palate,to investigate the relatedNSCL/P factors and the changes of NSCL/P genotype and allele frequency in different ethnic groups.Methods: From November of2011to November of2012,on the basis of XinJiang Uygurs and Hans withNSCL/P epidemiological survey,100cases of NSCL/P patients were randomly selected as NSCL/P groupincluding50cases of Uygurs people and50cases of Hans NSCL/P patients, and100cases were controlgroup. The polymorphism of the IRF6gene was determined by the PCR-Restriction fragment lengthtechnique. We used Pearson χ~2to test the distribution of genotypes whether it could conform to the law ofHardy-Weinberg Equilibrium. At the same time, we also analyzed genotype and allele frequency anddistinguished the difference in or between Uygurs and Hans. We carried case-control study to analyzeNSCL/P group and control group and assess family history,biological factors,the socio-demographic etc toimpact of the NSCL/P by univariate and multivariate non-conditional Logistic regression analysis.Results:1.The IRF6gene polymorphism analysis indicated that distribution of genotype frequencyconformed to the law of HWE (P>0.05). G allele frequency at rs2235371is different in the NSCL/P groupand the control group,the NSCL/P group is66.5%,the control group is56%,the former is higher than thelatter.A allele frequency at rs2235371in the NSCL/P group is33.5%,A allele frequency at rs2235371in thecontrol group is44%,the former is lower than the latter;GG genotype and G allele frequency at rs2235375of the NSCL/P group were higher than the control group, G allele frequency at rs2235375of the NSCL/Pgroup was lower than the control group,the difference had statistics significance (P<0.05).GG genotype andG allele frequency at rs2013162of NSCL/P group is higher than the control group obviously, T allele isopposite,the difference also had statistics significance (P<0.05).2.In Uygurs and Hans,AA genotypefrequency at rs2235371of Uygurs and GG and GA genotypes frequency of Hans had statistics significance(P<0.05);G and C alleles of Uygurs of rs2235375and GG genotype and G and C alleles of Hans hadstatistical significance(P<0.05); GG and TT genotypes and G and T alleles frequency at rs2013162ofUygurs also had statistics significance (P<0.05).Between Uygurs and Hans,GG and AA genotypesfrequency of Uygurs at rs2235371was higher than Hans, GA genotype had statistics significance betweenUygurs and Hans (P<0.05);In NSCL/P group,the frequency of GG and CC genotypes in Uygurs atrs2235375was higher than in Hans,and CC genotype between Uygurs and Hans nationalities had statisticalsignificance(P<0.05);GG and TT genotypes and G allele frequency of Uygurs at rs2013162were higherthan Hans, but both genotype and allele had no statistics significance between Uygurs andHans(P>0.05).3.In the related factors of NSCL/P study of XinJiang Uygurs:Univariate analysis showed therelationship between NSCL/P and folic acid,vitamin and nutritive drugs supplement in pregnancy,parents,nation,exposure to hazardous substance during pregnancy,smoking history, maternal infectious and diseasehistory,IRF6rs2235371AA genotype,taking medicine history during pregnancy were statisticallysignificant(P<0.05). Multivariate analysis showed that parents,nation,exposure to hazardous substance during pregnancy,smoking history, maternal infectious and disease history,IRF6rs2235371AA genotypehave effect on the risk of NSCL/P,more folic acid,vitamin and nutritive drugs supplement inpregnancy,while lower the risk of NSCL/P.4.In the related factors of NSCL/P study of XinJiangHans:Univariate analysis showed the relationship between NSCL/P and folic acid,vitamin,nutritive drugssupplement in pregnancy,parents,education level,birth age of this time(become older), smoking anddrinking history,exposure to hazardous substance during pregnancy,maternal infectious and diseasehistory,IRF6rs2235375GG genotype,taking medicine history during pregnancy were statisticallySignificant (P<0.05). Multivariate analysis showed that birth age of this time(become older), smoking anddrinking history,exposure to hazardous substance during pregnancy,maternal infectious and diseasehistory,IRF6rs2235375GG genotype have effect on the risk of NSCL/P,more folic acid,vitamin andnutritive drugs supplement in pregnancy and higher parents,education level,while lower the risk ofNSCL/P.Conclusion:1.AA genotype at rs2235371,G allele at rs2235375,GG and TT genotypes at rs2013162wereassociated with NSCL/P disease in Uygurs. But in Hans, GG and GA genotypes at rs2235371,GG genotypeand G allele were also associated with NSCL/P disease.2.In XinJiang Uygurs,the study demonstrated thatexposure to hazardous substance during pregnancy,smoking history, maternal infectious and diseasehistory,IRF6rs2235371AA genotype are risk factors for NSCL/P, folic acid,vitamin and nutritive drugssupplement in pregnancy may be one of protective risk factors;In XinJiang Hans,the study demonstratedthat birth age of this time(become older), smoking and drinking history,exposure to hazardous substanceduring pregnancy,maternal infectious and disease history,IRF6rs2235375GG genotype are risk factors forNSCL/P, folic acid,vitamin and nutritive drugs supplement in pregnancy and parents,education level maybe one of protective risk factors. |
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