Fine Mapping of the SLEB2 Locus Involved in Susceptibility to Systemic Lupus Erythematosus

Genomics ◽  
2000 ◽  
Vol 70 (3) ◽  
pp. 307-314 ◽  
Author(s):  
V. Magnusson ◽  
A.-K.B. Lindqvist ◽  
C. Castillejo-López ◽  
H. Kristjánsdottir ◽  
K. Steinsson ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Fine Mapping ◽  
Lupus Erythematosus ◽  
Systemic Lupus

scholarly journals PXKlocus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility geneABHD6

2014 ◽  
Vol 74 (3) ◽  
pp. e14-e14 ◽  
Author(s):  
Nina Y Oparina ◽  
Angelica M Delgado-Vega ◽  
Manuel Martinez-Bueno ◽  
César Magro-Checa ◽  
Concepción Fernández ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Functional Analysis ◽  
Fine Mapping ◽  
Lupus Erythematosus ◽  
Systemic Lupus

Identification of ST3AGL4, MFHAS1, CSNK2A2 and CD226 as loci associated with systemic lupus erythematosus (SLE) and evaluation of SLE genetics in drug repositioning

2018 ◽  
Vol 77 (7) ◽  
pp. 1078-1084 ◽  
Author(s):  
Yong-Fei Wang ◽  
Yan Zhang ◽  
Zhengwei Zhu ◽  
Ting-You Wang ◽  
David L Morris ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Fine Mapping ◽  
Lupus Erythematosus ◽  
Drug Repositioning ◽  
Association Studies ◽  
Genome Wide Association Studies ◽  
Systemic Lupus ◽  
Genome Wide ◽  
Causal Variants

ObjectivesSystemic lupus erythematosus (SLE) is a prototype autoimmune disease with a strong genetic component in its pathogenesis. Through genome-wide association studies (GWAS), we recently identified 10 novel loci associated with SLE and uncovered a number of suggestive loci requiring further validation. This study aimed to validate those loci in independent cohorts and evaluate the role of SLE genetics in drug repositioning.MethodsWe conducted GWAS and replication studies involving 12 280 SLE cases and 18 828 controls, and performed fine-mapping analyses to identify likely causal variants within the newly identified loci. We further scanned drug target databases to evaluate the role of SLE genetics in drug repositioning.ResultsWe identified three novel loci that surpassed genome-wide significance, including ST3AGL4 (rs13238909, pmeta=4.40E-08), MFHAS1 (rs2428, pmeta=1.17E-08) and CSNK2A2 (rs2731783, pmeta=1.08E-09). We also confirmed the association of CD226 locus with SLE (rs763361, pmeta=2.45E-08). Fine-mapping and functional analyses indicated that the putative causal variants in CSNK2A2 locus reside in an enhancer and are associated with expression of CSNK2A2 in B-lymphocytes, suggesting a potential mechanism of association. In addition, we demonstrated that SLE risk genes were more likely to be interacting proteins with targets of approved SLE drugs (OR=2.41, p=1.50E-03) which supports the role of genetic studies to repurpose drugs approved for other diseases for the treatment of SLE.ConclusionThis study identified three novel loci associated with SLE and demonstrated the role of SLE GWAS findings in drug repositioning.

scholarly journals Fine-Mapping Chromosome 20 in 230 Systemic Lupus Erythematosus Sib Pair and Multiplex Families: Evidence for Genetic Epistasis with Chromosome 16q12

2006 ◽  
Vol 78 (5) ◽  
pp. 747-758 ◽  
Author(s):  
Patrick M. Gaffney ◽  
Carl D. Langefeld ◽  
Robert R. Graham ◽  
Ward A. Ortmann ◽  
Adrienne H. Williams ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Fine Mapping ◽  
Lupus Erythematosus ◽  
Systemic Lupus ◽  
Chromosome 20 ◽  
Genetic Epistasis ◽  
Multiplex Families ◽  
Chromosome 16Q12

scholarly journals Novel genetic associations with interferon in systemic lupus erythematosus identified by replication and fine-mapping of trait-stratified genome-wide screen

Cytokine ◽  
2020 ◽  
Vol 132 ◽  
pp. 154631 ◽  
Author(s):  
Yogita Ghodke-Puranik ◽  
Molly Imgruet ◽  
Jessica M. Dorschner ◽  
Prakriti Shrestha ◽  
Kaci McCoy ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Fine Mapping ◽  
Lupus Erythematosus ◽  
Genetic Associations ◽  
Systemic Lupus ◽  
Genome Wide

scholarly journals Epistatic Suppression of Systemic Lupus Erythematosus: Fine Mapping of Sles1 to Less Than 1 Mb

2005 ◽  
Vol 175 (2) ◽  
pp. 1062-1072 ◽  
Author(s):  
Srividya Subramanian ◽  
Young-Sun Yim ◽  
Kui Liu ◽  
Katalin Tus ◽  
Xin J. Zhou ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Fine Mapping ◽  
Lupus Erythematosus ◽  
Systemic Lupus

scholarly journals Fine mapping and functional study of the systemic lupus erythematosus-associated NMNAT2/SMG7 locus

2014 ◽  
Vol 16 (Suppl 1) ◽  
pp. A11
Author(s):  
Jian Zhao ◽  
Yun Deng ◽  
Jennifer M Grossman ◽  
Betty P Tsao
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Fine Mapping ◽  
Lupus Erythematosus ◽  
Functional Study ◽  
Systemic Lupus

scholarly journals Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans

2018 ◽  
Vol 27 (21) ◽  
pp. 3813-3824 ◽  
Author(s):  
Ken B Hanscombe ◽  
David L Morris ◽  
Janelle A Noble ◽  
Alexander T Dilthey ◽  
Philip Tombleson ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
African Americans ◽  
Fine Mapping ◽  
Lupus Erythematosus ◽  
Systemic Lupus

scholarly journals Fine mapping of Xq28: bothMECP2 and IRAK1contribute to risk for systemic lupus erythematosus in multiple ancestral groups

2012 ◽  
Vol 72 (3) ◽  
pp. 437-444 ◽  
Author(s):  
Kenneth M Kaufman ◽  
Jian Zhao ◽  
Jennifer A Kelly ◽  
Travis Hughes ◽  
Adam Adler ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Fine Mapping ◽  
Lupus Erythematosus ◽  
Systemic Lupus

scholarly journals Fine mapping chromosome 16q12 in a collection of 231 systemic lupus erythematosus sibpair and multiplex families

2004 ◽  
Vol 6 (1) ◽  
pp. 19-23 ◽  
Author(s):  
C D Gillett ◽  
C D Langefeld ◽  
A H Williams ◽  
W A Ortmann ◽  
R R Graham ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Fine Mapping ◽  
Lupus Erythematosus ◽  
Systemic Lupus ◽  
Multiplex Families ◽  
Chromosome 16Q12

Organized Intraglomerular Deposits in NZB Mouse Disease

1971 ◽  
Vol 29 ◽  
pp. 544-545
Author(s):  
Francis R. Comerford ◽  
Alan S. Cohen
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Antinuclear Antibodies ◽  
Human Systemic Lupus Erythematosus ◽  
Systemic Lupus ◽  
Glomerular Lesion ◽  
Ultrastructural Studies ◽  
Dense Deposits ◽  
Experimental Nephritis ◽  
Glomerular Lesions

Mice of the inbred NZB strain develop a spontaneous disease characterized by autoimmune hemolytic anemia, positive lupus erythematosus cell tests and antinuclear antibodies and nephritis. This disease is analogous to human systemic lupus erythematosus. In ultrastructural studies of the glomerular lesion in NZB mice, intraglomerular dense deposits in mesangial, subepithelial and subendothelial locations were described. In common with the findings in many examples of human and experimental nephritis, including many cases of human lupus nephritis, these deposits were amorphous or slightly granular in appearance with no definable substructure.We have recently observed structured deposits in the glomeruli of NZB mice. They were uncommon and were found in older animals with severe glomerular lesions by morphologic criteria. They were seen most commonly as extracellular elements in subendothelial and mesangial regions. The deposits ranged up to 3 microns in greatest dimension and were often adjacent to deposits of lipid-like round particles of 30 to 250 millimicrons in diameter and with amorphous dense deposits.

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