Copy Number Variation and Frequency of rs179008 in TLR7 Gene Associated with Systemic Lupus Erythematosus in Two Mexican Populations.

Autor: Pacheco GV; Hematology Laboratory, Regional Research Center, Autonomous University of Yucatán, Yucatán, Mexico., Nakazawa Ueji YE; Hematology Laboratory, Regional Research Center, Autonomous University of Yucatán, Yucatán, Mexico., Bello JR; Endocrinology Department, National Institute of Cardiology Ignacio Chávez, México City, Mexico., Barbosa Cobos RE; Rheumatology Department, Hospital Juárez de México, México City, Mexico., Jiménez Becerra ED; Hematology Laboratory, Regional Research Center, Autonomous University of Yucatán, Yucatán, Mexico., González Herrera LJ; Genetic Laboratory, Regional Research Center, Autonomous University of Yucatán, Yucatán, Mexico., Pérez Mendoza GJ; Hematology Laboratory, Regional Research Center, Autonomous University of Yucatán, Yucatán, Mexico., Rivero Cárdenas NA; Hematology Laboratory, Regional Research Center, Autonomous University of Yucatán, Yucatán, Mexico., Angulo Ramírez AV; Rheumatology Department, Hospital General Dr. Agustín O'Horán, Health Service Yucatán, Yucatán, Mexico., López Villanueva RF; Rheumatology Department, Regional Hospital General (ISSSTE), Health Service Yucatán, Yucatán, Mexico.
Jazyk: angličtina
Zdroj: Journal of immunology research [J Immunol Res] 2022 Jan 17; Vol. 2022, pp. 2553901. Date of Electronic Publication: 2022 Jan 17 (Print Publication: 2022).
DOI: 10.1155/2022/2553901
Abstrakt: Systemic Lupus Erythematosus (SLE) is an autoimmune disease in which genetic factors play a role in the susceptibility to develop it. Genes related to the synthesis of interferons such as TLR7 and genetics factors such as single nucleotide polymorphisms (SNPs) or copies number variation (CNV) in the gene have been involved with the development of the disease. The genetic differences between the populations contribute to the complexity of LES. Mexico has a mestizo population with a genetic load of at least three origins: Amerindian, Caucasian, and African. The mestizo of Yucatán is the only group whose contribution Amerindian is mainly Mayan, geographically distant from other Mexican Amerindians. We analyzed the CNV and the frequency of SNP rs179008 of the TLR7 as genetic risk factors in developing the disease in patients from Yucatán and Central Mexico. Results show that 14% of the cases of the Yucatecan population showed significantly >2 CNV and a higher risk of developing the disease (OR: 34.364), concerning 4% of those coming from Central Mexico (OR: 10.855). T allele and the A/T and T/T risk genotypes of rs179008 were more frequent in patients of Central Mexico than in those of Yucatán (50% vs. 30%, 93% vs. 30%, 4% vs. 1%), and association with susceptibility to develop SLE was observed (OR: 1.5 vs. 0.58, 9.54 vs. 0.66, 12 vs. 0.14). Data support the genetic differences between and within Mexican mestizo populations and the role of the TLR7 in the pathogenesis of SLE.
Competing Interests: The authors declare that there is no conflict of interest regarding the publication of this manuscript.
(Copyright © 2022 Guillermo Valencia Pacheco et al.)
Databáze: MEDLINE
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