Copy Number Variation of TLR-7 Gene and its Association with the Development of Systemic Lupus Erythematosus in Female Patients from Yucatan Mexico
Author(s) -
Guillermo ValenciaPacheco,
Darig Cámara Cruz,
Lizbeth GonzálezHerrera,
Gerardo J. Pérez Mendoza,
Guadalupe I. Adrián Amaro,
Yumi E. Nakazawa Ueji,
Angélica V. Angulo Ramírez
Publication year - 2014
Publication title -
genetics and epigenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.38
H-Index - 10
ISSN - 1179-237X
DOI - 10.4137/geg.s16707
Subject(s) - copy number variation , immunology , taqman , pathogenesis , disease , gene , autoantibody , polymerase chain reaction , real time polymerase chain reaction , autoimmune disease , biology , medicine , genetics , antibody , genome
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by the production of autoantibodies against self-antigens, which occurs most often in women between 15 and 40 years of age. The innate immunity is involved in the pathogenesis of SLE through TLR- 7. Genetic factors such as copy number variation (CNV) of target genes may contribute to disease development, but this possible risk has not yet been studied in SLE patients from Yucatan, Mexico. The CNV of TLR-7 gene was determined by quantitative polymerase chain reaction assay using TaqMan probes in 80 SLE women and 150 control subjects. The results showed that 10% of SLE patients exhibited more than two copies of TLR-7 gene, whereas no mRNA overexpression was detected. These data suggested that increased CNV of the TLR-7 gene in Yucatan SLE women can be a risk factor for this disease.
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