Analysis of a Functional BTNL2 Polymorphism in Type 1 Diabetes, Rheumatoid Arthritis, and Systemic Lupus Erythematosus

2005 ◽  
Vol 66 (12) ◽  
pp. 1235-1241 ◽  
Author(s):  
Gisela Orozco ◽  
Peter Eerligh ◽  
Elena Sánchez ◽  
Sasha Zhernakova ◽  
Bart O. Roep ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Systemic Lupus Erythematosus ◽  
Type 1 Diabetes ◽  
Lupus Erythematosus ◽  
Systemic Lupus

HLAs in Autoimmune Diseases: Dependable Diagnostic Biomarkers?

2019 ◽  
Vol 15 (4) ◽  
pp. 269-276 ◽  
Author(s):  
Elham Rajaei ◽  
Mohammad Taha Jalali ◽  
Saeid Shahrabi ◽  
Ali Amin Asnafi ◽  
Seyed Mohammad Sadegh Pezeshki
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Type 1 Diabetes ◽  
Autoimmune Diseases ◽  
Antigen Presentation ◽  
Lupus Erythematosus ◽  
Human Leukocyte ◽  
Systemic Lupus ◽  
Hla Alleles ◽  
Behcet’S Syndrome

Background: The process of antigen presentation to immune cells is an undeniable contributor to the pathogenesis of autoimmune diseases. Different studies have indicated several factors that are related to autoimmunity. Human Leukocyte Antigens (HLAs) are among such factors, which have a key role in autoimmunity because of their involvement in antigen presentation process. Methods: Relevant English language literature was searched and retrieved from Google Scholar search engine and PubMed database (1996-2018). The following keywords were used: "Human leukocyte antigen", "Behcet’s syndrome", "Rheumatoid arthritis", "Systemic lupus erythematosus", "Type 1 diabetes", "Celiac Disease" and "Autoimmunity". Results: There is a strong association between HLA alleles and autoimmune diseases. For instance, HLA-B alleles and Behcet’s syndrome are strongly correlated, and systemic lupus erythematosus and Type 1 diabetes are related to HLA-DQA1 and HLA-DQB1, respectively. Conclusion: Association between numerous HLA alleles and autoimmune diseases may justify and rationalize their use as biomarkers as well as possible diagnostic laboratory parameters.

scholarly journals Pleiotropy of systemic lupus erythematosus risk alleles and cardiometabolic disorders: A phenome-wide association study and inverse-variance weighted meta-analysis

Lupus ◽  
2021 ◽  
pp. 096120332110149
Author(s):  
Vivian K Kawai ◽  
Mingjian Shi ◽  
Ge Liu ◽  
QiPing Feng ◽  
WeiQi Wei ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Type 1 Diabetes ◽  
Lupus Erythematosus ◽  
Meta Analysis ◽  
Systemic Lupus ◽  
Risk Alleles ◽  
Inverse Variance ◽  
Related Risk ◽  
Cardiometabolic Disorders

Objectives To test the hypothesis that genetic predisposition to systemic lupus erythematosus (SLE) increases the risk of cardiometabolic disorders. Methods Using 41 single nucleotide polymorphisms (SNPs) associated with SLE, we calculated a weighted genetic risk score (wGRS) for SLE. In a large biobank we tested the association between this wGRS and 9 cardiometabolic phenotypes previously associated with SLE: atrial fibrillation, ischemic stroke, coronary artery disease, type 1 and type 2 diabetes, obesity, chronic kidney disease, hypertension, and hypercholesterolemia. Additionally, we performed a phenome-wide association analysis (pheWAS) to discover novel clinical associations with a genetic predisposition to SLE. Findings were replicated in the Electronic Medical Records and Genomics (eMERGE) Network. To further define the association between SLE-related risk alleles and the selected cardiometabolic phenotypes, we performed an inverse variance weighted regression (IVWR) meta-analysis. Results The wGRS for SLE was calculated in 74,759 individuals of European ancestry. Among the pre-selected phenotypes, the wGRS was significantly associated with type 1 diabetes (OR [95%CI] =1.11 [1.06, 1.17], P-value = 1.05x10−5). In the PheWAS, the wGRS was associated with several autoimmune phenotypes, kidney disorders, and skin neoplasm; but only the associations with autoimmune phenotypes were replicated. In the IVWR meta-analysis, SLE-related risk alleles were nominally associated with type 1 diabetes (P = 0.048) but the associations were heterogeneous and did not meet the adjusted significance threshold. Conclusion A weighted GRS for SLE was associated with an increased risk of several autoimmune-related phenotypes including type I diabetes but not with cardiometabolic disorders.

scholarly journals Carbonic Anhydrases III and IV Autoantibodies in Rheumatoid Arthritis, Systemic Lupus Erythematosus, Diabetes, Hypertensive Renal Disease, and Heart Failure

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Chengeng Liu ◽  
Yue Wei ◽  
Jianmin Wang ◽  
Langan Pi ◽  
Jianjun Huang ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Heart Failure ◽  
Systemic Lupus Erythematosus ◽  
Antioxidant Enzymes ◽  
Renal Disease ◽  
Lupus Erythematosus ◽  
Systemic Lupus ◽  
Control Groups ◽  
Antibody Titers

In the present study, the CA III and IV autoantibodies, CA activity, antioxidant enzymes and cytokines in rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), diabetes, hypertensive renal disease, and heart failure were investigated. The anti-CA III antibody titers in patients with RA, SLE, and type 1 diabetes (T1D) were significantly higher than that in control groups (P<0.05). The anti-CA IV antibody titers in patients with RA, SLE, type 1 diabetic nephropathy (T1DN), and heart failure were significantly higher than that in control groups (P<0.05) while anti-CA IV antibody could suppress the total CA activity. The SOD and GPx levels in patients with RA, SLE, and T1DN were significantly lower than that in control groups (P<0.05). IL-6, IL-17, IFN-γ, and TNF-αlevels were significantly higher in SLE group compared with the control group (P<0.05). Weak but significant correlations were found between anti-CA III antibodies and ESR in RA (r=0.403,P=0.013) and SLE patients (r=0.397,P=0.007). These results suggested that the generation of CA III and IV autoantibodies, antioxidant enzymes, and cytokines might influence each other and CA autoantibodies might affect the normal physiology function of CA.

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