Análisis de asociación entre polimorfismos (rs941798 y rs914458) del gen PTPN1 y diabetes tipo 2 en familias de Lima-Perú

espanolObjetivo: Analizar la asociacion de los polimorfismos de un solo nucleotido (SNP) rs941798 y rs914458 del gen PTPN1 con la diabetes tipo 2 en familias peruanas de Lima. Materiales y metodos: Veintitres trios familiares fueron captados en el Hospital Nacional Arzobispo Loayza. Se extrajeron muestras de sangre periferica para obtener el ADN y luego las frecuencias alelicas y genotipicas de los SNP. La genotipificacion de los SNP se realizo mediante secuenciacion. El analisis de asociacion basado en familias entre los SNP y la diabetes tipo 2 se realizo con el programa FBAT. Resultados: Se observaron los 3 genotipos posibles para cada SNP, rs941798 (A>G) y rs914458 (G>C). Las pruebas de asociacion basada en familias a nivel alelico mostraron al alelo A del SNP rs941798 asociado a la diabetes tipo 2 (p = 0.023) bajo uno de los modelos evaluados; no obstante, tras la correccion de Bonferroni para comparaciones multiples, esta asociacion se perdio. No se evidencio asociacion entre los SNP y la enfermedad en ningun nivel (alelico, genotipico o haplotipico). Conclusiones: No se encontraron evidencias de asociacion significativa entre los SNP rs941798 y rs914458 del gen PTPN1 con la DT2 en familias peruanas de Lima, en ninguno de los niveles estudiados (alelico, genotipico y haplotipico). EnglishObjective: To analyze the association that PTPN1 gene single nucleotide polymorphisms (SNPs) rs941798 and rs914458 have with type 2 diabetes in Peruvian families from Lima. Materials and methods: Twenty-three (23) families consisting of three members each were recruited at the Hospital Nacional Arzobispo Loayza. Peripheral blood samples were collected to obtain the DNA, and then the allele and genotype frequencies of the SNPs. SNP genotyping was performed using the sequencing method. The family-based analysis of the association between SNPs and type 2 diabetes was conducted using the family-based association test (FBAT) program. Results: Three (3) possible genotypes were observed for each SNP, i.e. rs941798 (A>G) and rs914458 (G>C). In one of the assessed models, the family-based association tests showed at the allele level that allele A of SNP rs941798 is associated with type 2 diabetes (p = 0.023). However, after using the Bonferroni correction for multiple comparisons, this association was lost. No association was demonstrated between the SNPs and the disease at any level (allele, genotype or haplotype). Conclusions: No evidence of significant association was found between PTPN1 gene SNPs rs941798 and rs914458 and type 2 diabetes at the studied levels (allele, genotype or haplotype) in Peruvian families from Lima.