scholarly journals Copy Number Variation of TLR-7 Gene and its Association with the Development of Systemic Lupus Erythematosus in Female Patients from Yucatan Mexico

2014 ◽  
Vol 6 ◽  
pp. GEG.S16707 ◽  
Author(s):  
Guillermo Valencia Pacheco ◽  
Darig Cámara Cruz ◽  
Lizbeth J. González Herrera ◽  
Gerardo J. Pérez Mendoza ◽  
Guadalupe I. Adrián Amaro ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Copy Number Variation ◽  
Lupus Erythematosus ◽  
Copy Number ◽  
Target Genes ◽  
Quantitative Polymerase Chain Reaction ◽  
Systemic Autoimmune Disease ◽  
Systemic Lupus ◽  
Number Variation ◽  
Polymerase Chain

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.

scholarly journals FCGR3B copy number variation is associated with systemic lupus erythematosus risk in Afro-Caribbeans

Rheumatology ◽  
2011 ◽  
Vol 50 (7) ◽  
pp. 1206-1210 ◽  
Author(s):  
M. Molokhia ◽  
M. Fanciulli ◽  
E. Petretto ◽  
A. L. Patrick ◽  
P. McKeigue ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Copy Number Variation ◽  
Lupus Erythematosus ◽  
Copy Number ◽  
Systemic Lupus ◽  
Number Variation

scholarly journals Impact of C4, C4A and C4B gene copy number variation in the susceptibility, phenotype and progression of systemic lupus erythematosus

2019 ◽  
Vol 59 (1) ◽  
Author(s):  
Kaline Medeiros Costa Pereira ◽  
Sandro Perazzio ◽  
Atila Granado A. Faria ◽  
Eloisa Sa Moreira ◽  
Viviane C. Santos ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Copy Number Variation ◽  
Lupus Erythematosus ◽  
Copy Number ◽  
Gene Copy Number ◽  
Gene Copy ◽  
Systemic Lupus ◽  
Gene Copy Number Variation ◽  
Number Variation

scholarly journals Analysis of copy number variation and SNP rs197008 of TLR7 gene and genetic risk for systemic lupus erythematosus in Yucatan, Mexico

2013 ◽  
Vol 3 (10) ◽  
Author(s):  
Guillermo Valencia Pacheco ◽  
Lizbeth J González Herrera ◽  
Daring Cámara Cruz ◽  
Guadalupe I Amaro Adrián ◽  
Yumi E. Nakazawa Ueji ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Copy Number Variation ◽  
Lupus Erythematosus ◽  
Genetic Risk ◽  
Copy Number ◽  
Systemic Lupus ◽  
Number Variation

scholarly journals Copy number variation in the susceptibility to systemic lupus erythematosus

PLoS ONE ◽  
2018 ◽  
Vol 13 (11) ◽  
pp. e0206683 ◽  
Author(s):  
Fernanda Bueno Barbosa ◽  
Milena Simioni ◽  
Cláudia Emília Vieira Wiezel ◽  
Fábio Rossi Torres ◽  
Miriam Coelho Molck ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Copy Number Variation ◽  
Lupus Erythematosus ◽  
Copy Number ◽  
Systemic Lupus ◽  
Number Variation

scholarly journals CCL3L3-null status is associated with susceptibility to systemic lupus erythematosus

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Young-Ho Kim ◽  
Eunyoung Emily Lee ◽  
Hye-Won Sim ◽  
Eun-Kyung Kang ◽  
Yoon-Ho Won ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Polymerase Chain Reaction ◽  
Lupus Erythematosus ◽  
Copy Number ◽  
Systemic Lupus ◽  
Chain Reaction ◽  
Competitive Polymerase Chain Reaction ◽  
Copy Numbers ◽  
Number Variation ◽  
Polymerase Chain

AbstractThe correlation between copy number variation (CNV) and the susceptibility to systemic lupus erythematosus (SLE) has been reported for various immunity-related genes. However, the contribution of CNVs to SLE susceptibility awaits more investigation. To evaluate the copy numbers in immunity-related genes such as TNFAIP3, TNIP1, IL12B, TBX21 (T-bet), TLR7, C4A, C4B, CCL3L1, and CCL3L3, the modified real competitive polymerase chain reaction (mrcPCR) assay was employed, and the association between the copy numbers and SLE susceptibility was analyzed in 334 SLE patients and 338 controls. CCL3L3-null status was significantly associated with SLE susceptibility (OR > 18, P < 0.0001), which remained significant by Bonferroni’s correction (corrected P = 0.0007). However, the significant association between C4B low-copy status and SLE susceptibility (OR = 1.6051, P = 0.0331) became non-significant by Bonferroni’s correction (corrected P = 0.3938). Except for these results, no other significant association between SLE susceptibility and copy number status in other genes was observed. The CCL3L3-null status may be a significant factor for SLE susceptibility.

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