Correlation Analysis Of SLC25A13Genotype And Biochemical Phenotype, And Serum Ceruloplasmin Levels And The Other Biochemical Alterations In NICCD Patient

Objective:To investigate the correlation between SLC25A13genotype and NICCDbiochemical phenotype, and serum ceruloplasmin levels and the otherbiochemical alterations in NICCD patients, so as to provide scientific evidences forthe in-depth understanding of the laboratory features of NICCD.Method: In this study,69NICCD patients with complete laboratory data wereenrolled as research subjects. All their diagnoses were confirmed by SLC25A13analysis from July2005to January2013in the Department of Pediatrics, The FirstAffiliated Hospital, Jinan University. The laboratory data were mainly collected fromthe hospitalization and clinic records in our hosipital, with partial information fromthe laboratory findings in their local hosipitals which were provided by theirparents. Chi-square test was used to analyze the correlation between SLC25A13genotype and NICCD biochemical phenotype (including the indices of cholestasis,protein, lipid, enzyme and metal ion), while Chi-square, linear correlation andmultiple linear regression were applied to explore the correlation between serumceruloplasmin levels and the other biochemical alterations. All statistic analyses wereconducted by means of the software SPSS13.0, with P<0.05as the standard ofsignificance.Results:①The mutations of851del4,1638-1660dup, IVS6+5G>A and IVS16ins3kbaccounted for83.3%of all the SLC25A13mutations in NICCD patients in this study,whilst the remaining mutations contributed just16.7%.②In the correlation analysesbetween the mutation distribution of SLC25A13gene in NICCD patients and thebiochemical indices of cholestasis(γ-GT, ALP, TBIL, DBIL, TBA), protein(FN, RBP,TP, CER, AFP, FER et al), lipid (TCHOL, TG, HDL-c, LDL-c, APOA et al),enzyme(ALT, AST, ADA, CHE et al) and metal ion(Cu, Zn, Fe), all P values wereover0.05, as revealed by Chi square test.③The correlation coefficiens r and P valuesin the linear correlation of analysis between serum ceruloplasmin and otherbiochemical indices were γ-GT (-0.635,0.000)、ALT (-0.348,0.006)、AST (-0.509, 0.000)、ALP (-0.366,0.004)、TBA (-0.605,0.000)、TBIL (-0.618,0.000)、DBIL(-0.634,0.000)、LDH (-0.309,0.015)、APOE (-0.599,0.000)、A/G (-0.272,0.034)、AFP (-0.279,0.041)、FER (-0.355,0.010)、RBP (0.475,0.000)、CHE (0.684,0.000)、FN (0.712,0.000)、TP (0.687,0.000)、ALB (0.662,0.000)、GLB (0.519,0.000)、APOA (0.514,0.000)、HDL-c (0.497,0.000)、LPa (0.463,0.000)、Zn (0.375,0.010)and Cu (0.776,0.000), respectively.④The partial regression coefficients and the Pvalues in further multiple linear regression analysis of serum ceruloplasmin with theother biochemical indices were Cu (Beta=0.362, P value=0.007), CHE (Beta=0.362,Pvalue=0.007) and FN (Beta=0.363,P value=0.003),respectively.Conclusion:①The high-frequency mutations of SLC25A13gene in NICCD patientswere851del4,1638-1660dup, IVS6+5G>A and IVS16ins3kb in this study.②Therewere no correlationship between SLC25A13mutation distribution and thebiochemical indices of cholestasis, protein, lipid, enzyme and metal ions.③InNICCD: patients, serum ceruloplasmin was negatively correlated with γ-GT, ALT,AST, ALP, TBA, TBIL, DBIL, LDH, APOE, A/G, AFP and FER, while, positivelycorrelated with RBP, CHE, FN, TP, ALB, GLB, APOA, HDL-c, LPa, Zn and Cu,respectively.④Futher multiple linear regression analysis revealed that Cu, CHE, FNwere associated with ceruloplasmin independently, with Cu as the strongest positivecorrelation factor.