Copy Number Variation and Frequency of rs179008 in TLR7 Gene Associated with Systemic Lupus Erythematosus in Two Mexican Populations
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...
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| Language: | English |
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Wiley
2022-01-01
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| Series: | Journal of Immunology Research |
| Online Access: | http://dx.doi.org/10.1155/2022/2553901 |
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| author | Guillermo Valencia Pacheco Yumi E. Nakazawa Ueji Julián Ramírez Bello Rosa E. Barbosa Cobos Eduardo D. Jiménez Becerra Lizbeth J. González Herrera Gerardo J. Pérez Mendoza Nubia A. Rivero Cárdenas Angélica V. Angulo Ramírez Ricardo F. López Villanueva |
| author_facet | Guillermo Valencia Pacheco Yumi E. Nakazawa Ueji Julián Ramírez Bello Rosa E. Barbosa Cobos Eduardo D. Jiménez Becerra Lizbeth J. González Herrera Gerardo J. Pérez Mendoza Nubia A. Rivero Cárdenas Angélica V. Angulo Ramírez Ricardo F. López Villanueva |
| author_sort | Guillermo Valencia Pacheco |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a4ce03bfff1848c2b09d80bc80f79977 |
| institution | Kabale University |
| issn | 2314-7156 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Immunology Research |
| spelling | doaj-art-a4ce03bfff1848c2b09d80bc80f799772025-08-20T03:38:12ZengWileyJournal of Immunology Research2314-71562022-01-01202210.1155/2022/2553901Copy Number Variation and Frequency of rs179008 in TLR7 Gene Associated with Systemic Lupus Erythematosus in Two Mexican PopulationsGuillermo Valencia Pacheco0Yumi E. Nakazawa Ueji1Julián Ramírez Bello2Rosa E. Barbosa Cobos3Eduardo D. Jiménez Becerra4Lizbeth J. González Herrera5Gerardo J. Pérez Mendoza6Nubia A. Rivero Cárdenas7Angélica V. Angulo Ramírez8Ricardo F. López Villanueva9Hematology LaboratoryHematology LaboratoryEndocrinology DepartmentRheumatology DepartmentHematology LaboratoryGenetic LaboratoryHematology LaboratoryHematology LaboratoryRheumatology DepartmentRheumatology DepartmentSystemic 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.http://dx.doi.org/10.1155/2022/2553901 |
| spellingShingle | Guillermo Valencia Pacheco Yumi E. Nakazawa Ueji Julián Ramírez Bello Rosa E. Barbosa Cobos Eduardo D. Jiménez Becerra Lizbeth J. González Herrera Gerardo J. Pérez Mendoza Nubia A. Rivero Cárdenas Angélica V. Angulo Ramírez Ricardo F. López Villanueva Copy Number Variation and Frequency of rs179008 in TLR7 Gene Associated with Systemic Lupus Erythematosus in Two Mexican Populations Journal of Immunology Research |
| title | Copy Number Variation and Frequency of rs179008 in TLR7 Gene Associated with Systemic Lupus Erythematosus in Two Mexican Populations |
| title_full | Copy Number Variation and Frequency of rs179008 in TLR7 Gene Associated with Systemic Lupus Erythematosus in Two Mexican Populations |
| title_fullStr | Copy Number Variation and Frequency of rs179008 in TLR7 Gene Associated with Systemic Lupus Erythematosus in Two Mexican Populations |
| title_full_unstemmed | Copy Number Variation and Frequency of rs179008 in TLR7 Gene Associated with Systemic Lupus Erythematosus in Two Mexican Populations |
| title_short | Copy Number Variation and Frequency of rs179008 in TLR7 Gene Associated with Systemic Lupus Erythematosus in Two Mexican Populations |
| title_sort | copy number variation and frequency of rs179008 in tlr7 gene associated with systemic lupus erythematosus in two mexican populations |
| url | http://dx.doi.org/10.1155/2022/2553901 |
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