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

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Title: Análisis de asociación entre polimorfismos (rs941798 y rs914458) del gen PTPN1 y diabetes tipo 2 en familias de Lima-Perú.
Alternate Title: Analysis of the association between PTPN1 gene polymorphisms (rs941798 and rs914458) and type 2 diabetes in families from Lima - Peru.
Authors: Eduardo Sanchez-Castro, Enrique1, LaTorre-Ramírez, Renato1, Padilla Rojas, Carlos Patricio2, Lizaraso-Soto, Frank3, Calderón Ticona, Jorge4, Solís Villanueva, José4, Andrés García-Quispes, Wilser1, Paredes Anaya, Mónica Yolanda1 mparedesa1@unmsm.edu.pe
Source: Revista Horizonte Médico. Oct-Dec2019, Vol. 19 Issue 4, p14-19. 6p.
Abstract (English): Objective: 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. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): Objetivo: Analizar la asociación de los polimorfismos de un solo nucleótido (SNP) rs941798 y rs914458 del gen PTPN1 con la diabetes tipo 2 en familias peruanas de Lima. Materiales y métodos: Veintitrés tríos familiares fueron captados en el Hospital Nacional Arzobispo Loayza. Se extrajeron muestras de sangre periférica para obtener el ADN y luego las frecuencias alélicas y genotípicas de los SNP. La genotipificación de los SNP se realizó mediante secuenciación. El análisis de asociación basado en familias entre los SNP y la diabetes tipo 2 se realizó con el programa FBAT. Resultados: Se observaron los 3 genotipos posibles para cada SNP, rs941798 (A>G) y rs914458 (G>C). Las pruebas de asociación basada en familias a nivel alélico 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 corrección de Bonferroni para comparaciones múltiples, esta asociación se perdió. No se evidenció asociación entre los SNP y la enfermedad en ningún nivel (alélico, genotípico o haplotípico). Conclusiones: No se encontraron evidencias de asociación significativa entre los SNP rs941798 y rs914458 del gen PTPN1 con la DT2 en familias peruanas de Lima, en ninguno de los niveles estudiados (alélico, genotípico y haplotípico). [ABSTRACT FROM AUTHOR]
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Database: MedicLatina
Description
Abstract:Objective: 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. [ABSTRACT FROM AUTHOR]
ISSN:1727558X
DOI:10.24265/horizmed.2019.v19n4.03