Current advances in lupus genetic and genomic studies in Asia

Lupus ◽  
2010 ◽  
Vol 19 (12) ◽  
pp. 1374-1383 ◽  
Author(s):  
YJ Yuan ◽  
XB Luo ◽  
N. Shen

The genetic components in systemic lupus erythematosus (SLE) have long been established, however, it has been unclear for many years whether the same genetic risk factors for SLE are shared across different ethnic groups. Over the past few years, a number of genetic and genomic studies have been conducted in Asian populations to address this question. These studies have demonstrated that genetic heterogeneity does exist in SLE across different ethnic groups. With these studies, it has been established that a number of genes associated with SLE in Caucasians are also risk factors in Asians: HLA class II genes, STAT4, BANK1, BLK, IRF5, TNFSF4, ITGAM, etc., while there are also novel genetic risk factors identified by these studies in Asians, for instance, the ETS1 and WDFY4 in Chinese. For the genomic studies, the interferon signature has been confirmed as a major lupus molecular phenotype in Asians the same as in Caucasians; microRNA expression profiling and its novel role in regulating the interferon pathway has been first revealed in Asians. Further understanding of the function of lupus disease genes and delineating the key molecular pathway(s) will enhance the development of novel therapeutic targets and biomarkers for individualized clinical management for lupus patients.

2014 ◽  
Vol 2014 ◽  
pp. 1-11 ◽  
Author(s):  
Khaled K. Abu-Amero ◽  
Abdulrahman M. Al-Muammar ◽  
Altaf A. Kondkar

Keratoconus is a progressive thinning and anterior protrusion of the cornea that results in steepening and distortion of the cornea, altered refractive powers, and reduced vision. Keratoconus has a complex multifactorial etiology, with environmental, behavioral, and multiple genetic components contributing to the disease pathophysiology. Using genome-wide and candidate gene approaches several genomic loci and genes have been identified that highlight the complex molecular etiology of this disease. The review focuses on current knowledge of these genetic risk factors associated with keratoconus.


2012 ◽  
Vol 39 (8) ◽  
pp. 1603-1610 ◽  
Author(s):  
RACHEL KAISER ◽  
YONGHONG LI ◽  
MONICA CHANG ◽  
JOSEPH CATANESE ◽  
ANN B. BEGOVICH ◽  
...  

Objective.Thrombosis is a serious complication of systemic lupus erythematosus (SLE). We investigated whether genetic variants implicated in thrombosis pathways are associated with thrombosis among 2 ethnically diverse SLE cohorts.Methods.Our discovery cohort consisted of 1698 patients with SLE enrolled in the University of California, San Francisco, Lupus Genetics Project and our replication cohort included 1361 patients with SLE enrolled in the PROFILE cohort. Patients fulfilled American College of Rheumatology SLE criteria, and data relevant to thrombosis were available. Thirty-three single nucleotide polymorphisms (SNP) previously shown to be associated with risk of deep venous thrombosis in the general population or implicated in thrombosis pathways were genotyped and tested for association with thrombosis in bivariate allelic analyses. SNP with p < 0.1 in the bivariate analyses were further tested in multivariable logistic regression models adjusted for age, sex, disease duration, antiphospholipid antibody status, smoking, nephritis, and medications.Results.In the discovery cohort, 23% of patients with SLE experienced a thrombotic event. SNP in the following genes demonstrated association with thrombosis risk overall in the discovery or replication cohorts and were assessed using metaanalytic methods: factor V Leiden (FVL) rs6025 (OR 1.85, p = 0.02) and methylenetetrahydrofolate reductase (MTHFR) rs1801133 (OR 0.75, p = 0.04) in whites, and fibrinogen gamma (FGG) rs2066865 (OR 1.91, p = 0.01) in Hispanic Americans. SNP in these genes showed association with venous thrombosis risk in whites: MTHFR rs1801131 (OR 1.51, p = 0.01), MTHFR rs1801133 (OR 0.70, p = 0.04), FVL rs6025 (OR 2.69, p = 0.002), and FGG rs2066865 (OR 1.49, p = 0.02) in whites. A SNP in FGG rs2066865 (OR 2.19, p = 0.003) demonstrated association with arterial thrombosis risk in Hispanics.Conclusion.Our results implicate specific genetic risk factors for thrombosis in patients with SLE and suggest that genetic risk for thrombosis differs across ethnic groups.


2009 ◽  
Vol 54 (11) ◽  
pp. 642-646 ◽  
Author(s):  
Kunihiko Hinohara ◽  
Hitoshi Ohtani ◽  
Toshiaki Nakajima ◽  
Taishi Sasaoka ◽  
Motoji Sawabe ◽  
...  

2003 ◽  
Vol 25 (2) ◽  
pp. 97-102 ◽  
Author(s):  
Tae-Young Kang ◽  
Hye-Soon Lee ◽  
Tae-Hwan Kim ◽  
Jae-Bum Jun ◽  
Dae-Hyun Yoo

2021 ◽  
Author(s):  
Yumi Tsuchida ◽  
Hirofumi Shoda ◽  
Masahiro Nakano ◽  
Mineto Ota ◽  
Tomohisa Okamura ◽  
...  

The importance of autotaxin, which catalyzes the production of lysophospholipids, has recently been recognized in various diseases including cancer and autoimmune diseases. We herein report our analysis of autotaxin in systemic lupus erythematosus (SLE), utilizing data from ImmuNexUT, a comprehensive database consisting of transcriptome data and expression quantitative trait locus (eQTL) data of immune cells from patients with immune-mediated disorders. Autotaxin was elevated in the serum of SLE patients, and the expression of ENPP2, which encodes autotaxin, is elevated in plasmacytoid dendritic cells (pDCs) of SLE patients compared to healthy controls. In weighted correlation network analysis, ENPP2 belonged to a module that correlated with disease activity. This module was enriched in interferon-associated genes and included genes whose expression is influenced by SNPs associated with SLE, suggesting that it is a key module connecting genetic risk factors of SLE with disease pathogenesis. The increased expression of ENPP2 in pDCs from SLE patients may be due to increased expression of interferon-associated genes and increased binding of STAT3 complexes to the regulatory region of ENPP2. Thus, autotaxin may play a critical role in connecting genetic risk factors of SLE to disease pathogenesis in pDCs.


2005 ◽  
Vol 25 (1) ◽  
pp. 77-84 ◽  
Author(s):  
Wannaporn Ittiprasert ◽  
Surasak Kantachuvesiri ◽  
Kanok Pavasuthipaisit ◽  
Orawan Verasertniyom ◽  
Lulin Chaomthum ◽  
...  

2007 ◽  
Vol 56 (8) ◽  
pp. 2679-2686 ◽  
Author(s):  
Brent W. Kinder ◽  
Michelle M. Freemer ◽  
Talmadge E. King ◽  
Raymond F. Lum ◽  
Joanne Nititham ◽  
...  

2011 ◽  
Vol 33 (1) ◽  
pp. 35-43 ◽  
Author(s):  
Hanan El Saadany ◽  
Mervat El-Sergany ◽  
Elham Kasem ◽  
Manal M. El-Batch ◽  
Soha S. Zakaria ◽  
...  

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