Escamilla-Tilch Mónica, Pérez-Suárez Thalía Gabriela, Torres-Carrillo Nora Magdalena, Rodríguez-Guillén Rosario, Arenas-Guzmán Roberto, Torres-Hernández Marcela, Fafutis-Morris Mary, Estrada-Parra Sergio, Estrada-Garía Iris, García-Lechuga Maricela, Granados Julio, Ramos-Payan Rosalio
Coordinación de Investigación, Centro Médico Nacional '20 de Noviembre', Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado, Mexico City 03100.
Departamento de Microbiología y Patología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco 44340.
Biomed Rep. 2019 Feb;10(2):127-132. doi: 10.3892/br.2019.1184. Epub 2019 Jan 7.
Leprosy, a human chronic granulomatous disease caused by , remains endemic in certain countries despite the use of multidrug therapy. Recently, several host genes modulating the immune responses to infection have been suggested to influence the acquisition and clinical course of leprosy. Lymphoid protein tyrosine phosphatase, encoded by the protein tyrosine phosphatase non-receptor type 22 () gene, serves a negative regulatory role in T cell activation. The non-synonymous single-nucleotide polymorphism (SNP) rs2476601 (1858C>T) has been associated with autoimmune diseases. Here, the present study investigated if rs2476601 polymorphism was associated with leprosy in a Mexican mestizo population. Genotyping was performed in patients with leprosy (n=189) and control subjects (n=231) from regions with higher incidence of leprosy. Genotypic (P=0.44) and allelic frequencies (P=0.45) of the rs2476601 polymorphism were similar between patients and controls; genotypic frequencies were 91 vs. 94% for CC and 9 vs. 6% for CT, and the TT genotype was absent in both groups. Allelic frequencies were 96 vs. 97% for C, and 4 vs. 3% for T. In the same way, the genotypic (P=0.46) and allelic frequencies (P=0.47) from MB patients and controls were similar. In conclusion, there was a lack of association of the rs2476601 polymorphism with the development of leprosy, which suggests that this SNP was not a genetic risk factor for leprosy in the Mexican mestizo population studied.
麻风病是一种由 引起的人类慢性肉芽肿性疾病，尽管采用了多药联合治疗，但在某些国家仍呈地方性流行。最近，有研究表明，几种调节对 感染免疫反应的宿主基因会影响麻风病的感染情况和临床病程。由蛋白酪氨酸磷酸酶非受体型22（）基因编码的淋巴细胞蛋白酪氨酸磷酸酶在T细胞活化中起负调节作用。非同义单核苷酸多态性（SNP）rs2476601（1858C>T）与自身免疫性疾病有关。在此，本研究调查了rs2476601多态性是否与墨西哥混血人群中的麻风病有关。对来自麻风病发病率较高地区的麻风病患者（n = 189）和对照受试者（n = 231）进行基因分型。患者和对照之间rs2476601多态性的基因型频率（P = 0.44）和等位基因频率（P = 0.45）相似；CC基因型频率分别为91%和94%，CT基因型频率分别为9%和6%，两组均无TT基因型。等位基因频率C为96%和97%，T为4%和3%。同样，MB患者和对照的基因型频率（P = 0.46）和等位基因频率（P = 0.47）相似。总之，rs2476601多态性与麻风病的发生缺乏关联，这表明该SNP不是所研究的墨西哥混血人群中麻风病的遗传危险因素。
