Asociación de variantes polimorfas de los genes PTPN22, TNF y VDR en niños con nefritis lúpica: un estudio de tríos en familias colombianas

摘要: Introduction: Systemic lupus erythematosus is an autoimmune disease in which the severity varies according to race, sex and age of onset. This variation also observed genetic markers associated with disease, including PTPN22 , VDR TNF genes. The stratification different populations worldwide can influence variability. Objective: To analyze heritability variants their association pediatric nephritis Colombian families. Materials methods: We conducted a family-based study 46 triads (case, father mother). rs2476601 ; rs361525 rs1800629 TaqI [rs731236], ApaI [rs7975232], BsmI [rs1544410] FokI [rs2228570] were genotyped by qPCR. effects overtransmission risk allele from parents children linkage disequilibrium at loci estimated. Results: found that A was distributed among 8.69 % (n=16) 19.5 (n=18) cases; this overtransmitted 17 times more often than G (p=0.028). polymorphisms did not exhibit transmission disequilibrium. TaqI, exhibited Conclusion: These findings showed between polymorphism due its group families studied.