The Association Of IFT88 Gene Polymorphism With Nonsyndromic Cleft Lip With Or Without Cleft Palate And A Survey Of Physical And Mental Health Of Patients With Nonsyndromic Cleft Lip With Or Without Cleft Palate

Objective Part ? : To investigate the association between single nucleotide polymorphisms of the intraflagellar transporter 88(IFT88)gene rs2442455?rs9509307?rs17055251? rs75494891 and nonsyndromic cleft lip with or without cleft palate in Ningxia population.Part?: To investigate the status of physical and mental health of patients with cleft lip with or without cleft palate and its epidemiological distribution,Provide some basis for the early attention and improvement of patients' physical and mental health in the treatment of cleft lip and palate sequence.Methods Part?: A total of 705 patients with nonsyndromic cleft lip with or without cleft palate in Ningxia were included as a case group,including 424 males and 281 females.The control group consisted of 849 newborn infants born in the Department of Obstetrics,Ningxia Medical University General Hospital,including 432 males and 317 females.The genotypes of rs2442455 ? rs9509307 ? rs17055251 ? and rs75494891 of the IFT88 polymorphic loci were det alcted using the TaqMan SNPs genotying method.Hard-Weinberg equilibrium test was used to verify whether the genotype distribution of the control group's gene was consistent with the Hard-Weinberg equilibrium.Finally,the results of genotyping were statistically analyzed by case-control using SPSS17.0 software.Part ? : 389 cases of nonsyndromic cleft lip with or without cleft palate patients and 412 healthy individuals were collected as study subjects.The general questionnaire and Cornell Medical Index(CMI)questionnaire were used to conduct questionnaire survey,and the data obtained werestatistically analyzed by SPSS 17.0 software package.Results Part ? : There was no statistically significant difference in the sex ratio between the case group and the control group(P = 0.309).The genotype distribution of IFT884 locus(rs2442455,rs9509307,rs17055251,rs75494891)in all samples in the control group was consistent with Hard-Weinberg equilibrium.There was no statistically significant difference in genotype between rs2442455 and the control group in cleft lip,cleft palate,cleft lip and palate,and cleft lip with or without cleft palate groups(P > 0.05);There were no statistically significant differences in the allelic frequency of cleft lip,cleft lip and palate,cleft lip with or without cleft palate groups(P > 0.05);however,the allele frequency of rs2442455 in the cleft palate group was comparable to that of the control group,there was a statistical difference(P = 0.033).There was a statistically significant difference in the genotype and allele frequencies between the rs9509307 locus in the cleft palate,cleft lip and palate,cleft lip with or without cleft palate groups,and the control group(P < 0.05);There was no statistically significant difference in genotype and allele frequencies in the cleft lip group(P >0.05).Compared with the control group,there was a statistically significant difference in genotype and allele frequencies between the rs17055251 locus in the cleft palate,cleft lip and palate,and cleft lip with or without cleft palate groups(P < 0.05);In the cleft lip group,there was no significant difference in genotype and allele frequencies(P > 0.05).There were no statistically significant differences in genotype and allele frequencies between the rs75494891 locus in the cleft lip,cleft lip and palate,cleft lip with or without cleft palate groups,and the normal control group(P > 0.05);However,the frequency of genotypes and alleles in the cleft palate group was statistical difference compared with controls(P = 0.007).Part ? : In the general questionnaire,the average annual income of the case group was lower than that of the control group,and the cases of childbearing age of the parents were higher than the control group,the differences were statistically significant(P<0.05).Univariate regression analysis showed that cleft lip and palate had correlation with 13 aspects(Respiratory system,cardiovascular system,musculoskeletal system,skin,nervous system,fatigue,past medical condition,past medical history,depression,anxiety,sensitivity,anger,nervousness)of CMI(P<0.05).CMI multivariate regression analysis showed that there was a correlation between anger(P = 0.017),stress(P = 0.012),skeletal muscle system(P = 0.033),history of previous illness(P = 0.036)and nonsyndromic cleft lip with or without cleft palate.Conclusion Part ? : The polymorphisms of rs2442455,rs9509307,rs17055251 and rs75494891 in IFT88 gene are associated with cleft palate.The rs2442455,rs9509307,rs17055251,and rs75494891 locus of the IFT88 gene were not associated with a cleft lip.The rs9509307,rs17055251 locus of IFT88 gene has a certain correlation with cleft lip and palate,lip cleft with or without cleft palate.Part ? : The overall physical and mental health of adolescent patients with cleft lip and palate is poor.Patients with schizophrenia-type cleft lip and palate are prone to anger,nervousness,and musculoskeletal problems during puberty and are prone to many other diseases.