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1.
Ann Hum Genet ; 83(6): 426-433, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31069794

RESUMEN

Tuberculosis (TB) is a global issue as one-third of the population worldwide is considered to be infected. TB has become a critical public health problem as a result of increasing drug resistance, which poses a challenge to current control strategies. Similar to environmental factors, genetic makeup of the host equally contributes to disease onset. We performed genotypic analysis to examine the relationship between IFNG and TB onset and drug resistance in a Pakistani population comprising 689 subjects. Notable differences were observed in the IFNG polymorphism (+874T/A) between the case and control groups. The frequency of the wild-type genotype (TT) in the controls (43.2%) was significantly higher than in the cases (25.3%) (odds ratio [OR] = 0.77, p < 0.0001), while the mutant genotype frequency (AA) (38.57%) in the cases was significantly higher than in the controls (22.6%) (OR = 1.46, p < 0.0001). The heterozygous genotype frequency (TA) did not significantly differ between the control and case groups. Compared with the controls, the variant allele (A) was approximately twice as frequent in the cases. Females and older people have a higher chance of disease development. Finally, the IFNG (+874T/A) polymorphism was not associated with drug sensitivity or resistance. However, a genotypic polymorphism of IFNG (+874T/A) was significantly associated with susceptibility to TB, and the T allele conferred protection against TB. Additional studies involving larger cohorts are needed to further explore this relationship between genetics and disease vulnerability.


Asunto(s)
Predisposición Genética a la Enfermedad , Interferón gamma/genética , Polimorfismo de Nucleótido Simple , Tuberculosis/epidemiología , Tuberculosis/genética , Adolescente , Adulto , Anciano , Niño , Farmacorresistencia Bacteriana , Femenino , Estudios de Asociación Genética , Genotipo , Humanos , Masculino , Pruebas de Sensibilidad Microbiana , Persona de Mediana Edad , Pakistán/epidemiología , Fenotipo , Vigilancia de la Población , Tuberculosis/diagnóstico , Adulto Joven
2.
Braz J Microbiol ; 50(2): 429-434, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30805894

RESUMEN

Tuberculosis is becoming a global issue with raising occurrences; particularly in developing countries, the situation is alarming. Besides environmental factors, host genetic factors are vital in disease development. A demographical and genotypic analysis in relation to tuberculosis commencement is conducted in a Pakistani population, and genotypic frequency of EBI3 (rs4740) was analyzed. Allelic frequencies of EBI3 (rs4740) were significantly associated with disease susceptibility in the reviewed population. Analysis for EBI3 (rs4740) genotyping showed a significant association of "GG" with reduced risk for disease. Moreover, females and older age found to be more perilous to develop TB while smoking and a family history of TB are additional risk factors for disease development. Further work with a larger population is necessary to identify the true causative variants of tuberculosis.


Asunto(s)
Predisposición Genética a la Enfermedad/genética , Interleucinas/genética , Antígenos de Histocompatibilidad Menor/genética , Tuberculosis Pulmonar/genética , Adolescente , Adulto , Anciano , Estudios de Casos y Controles , Niño , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Mycobacterium tuberculosis/inmunología , Pakistán , Polimorfismo de Nucleótido Simple/genética , Factores de Riesgo , Fumar/efectos adversos , Tuberculosis Pulmonar/inmunología , Tuberculosis Pulmonar/microbiología , Adulto Joven
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