Dataset Information

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

ABSTRACT: 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.

SUBMITTER: Pacheco GV

PROVIDER: S-EPMC8786460 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

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

Pacheco Guillermo Valencia GV Nakazawa Ueji Yumi E YE Bello Julián Ramírez JR Barbosa Cobos Rosa E RE Jiménez Becerra Eduardo D ED González Herrera Lizbeth J LJ Pérez Mendoza Gerardo J GJ Rivero Cárdenas Nubia A NA Angulo Ramírez Angélica V AV López Villanueva Ricardo F RF

Journal of immunology research 20220117

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 <i>TLR7</i> 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 ...[more]

PMID: 35083340

Similar Datasets

Project description:Higher prevalence and worst outcome have been reported among people with systemic lupus erythematosus with non-European ancestries, with both genetic and socioeconomic variables as contributing factors. In Mexico, studies assessing the inequities related to quality of life for Systemic Lupus Erythematosus patients remain sparse. This study aims to assess the inequities related to quality of life in a cohort of Mexican people with SLE. This study included 942 individuals with SLE from the Mexican Lupus Registry (LupusRGMX) and two healthy control groups. Self-answered surveys were collected via the Research Electronic Data Capture platform between May 2021 and January 2023. Data was analyzed as a cross-sectional study. A random forest model was implemented to assess potential predictive variables. Permutation tests were performed to analyze the effect health providers had on diagnosis lag and quality of life's differences among socioeconomic levels. Partial correlation analysis between the number of patients and rheumatologists registered was also performed. Systemic Lupus Erythematosus participants had significantly lower quality of life than healthy people (p-values < 0.0001). Socioeconomic status, delay in diagnosis, and corticosteroid consumption were the factors that influenced QoL the most (RMSE = 9.53 with the importance variable validated); lower quality of life was associated with lower socioeconomic status (p-value < 0.0001). Disparities in health services were reflected in longer diagnosis time among people with public health providers (p-value = 0.0419). A significant association between diagnosed patients and available rheumatologists by geographical state was observed (ρ = 0.4, p-value = 0.0259), which can be translated into restricted access to specialists. Since most of our cohort exhibited low socioeconomic status, it is important to consider them as a vulnerable population; this study settles the necessity to deepen the effects of the socioeconomic disparities, allowing to design public policies and strategies aimed to reduce Systemic Lupus Erythematosus disparities, therefore improving quality of life of Mexican people with Systemic Lupus Erythematosus.

Project description:ObjectiveTo determine whether copy number variations (CNVs) in FCGR3A and FCGR3B are associated with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Taiwanese individuals.MethodsFCGR3A and FCGR3B CNV genotypes were determined in 846 patients with SLE, 948 patients with RA, and 1,420 healthy control subjects, using custom TaqMan CNV assays. The FCGR3A and FCGR3B CNV genotypes were compared between healthy control subjects and patients and among patients stratified according to clinical characteristics.ResultsA low (<2) FCGR3A copy number was significantly associated with SLE (for <2 copies versus 2 copies, P = 5.06 × 10(-4) , false discovery rate-corrected P [PFDR ] = 0.001, odds ratio [OR] 3.26, 95% confidence interval [95% CI] 1.68-6.35) and RA (for <2 copies versus 2 copies, P = 5.83 × 10(-4) , PFDR = 0.0012, OR 2.82, 95% CI 1.56-5.1). A low FCGR3B copy number was also significantly associated with SLE (for <2 copies versus 2 copies, P = 0.0032, PFDR = 0.0032, OR 1.59, 95% CI 1.17-2.18). Notably, a high (>2) FCGR3A copy number was also associated with SLE (for >2 copies versus 2 copies, P = 0.003, PFDR = 0.0061, OR 1.6, 95% CI 1.17-2.18). Additionally, the FCGR3A low copy number genotype was significantly enriched in subsets of patients with SLE (those with ulcer, arthritis, rash, discoid rash, photosensitivity, nephritis, leukopenia, thrombocytopenia, depressed complement levels, and autoantibody positivity) and patients with RA (those positive for rheumatoid factor) compared with healthy control subjects. The FCGR3B low copy number genotype was also significantly enriched in SLE patients with ulcer, rash, discoid rash, photosensitivity, ascites, nephritis, complement level depression, and anti-double-stranded DNA antibody positivity compared with control subjects. However, FCGR3B CNVs were not associated with RA susceptibility (for <2 copy numbers versus 2 copy numbers, P = 0.3584, OR 1.15, 95% CI 0.85-1.55) and clinical characteristics.ConclusionIn Taiwanese individuals, a low FCGR3A copy number is a common risk factor for SLE and RA, while a low FCGR3B copy number confers a risk of SLE but not RA.

Dataset Information

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

Publications

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

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets