Serum complement factor H and Tyr4O2 His gene polymorphism among Egyptians with multiple sclerosis

Abstract

There was evidence that serum CFH level may be associated with disease risk. There was no evidence that CFH Tyr402 His gene polymorphism is associated with disease risk.

Label-free Quantitative Proteomic Analysis of Cerebrospinal Fluid and Serum in Patients With Relapse-Remitting Multiple Sclerosis

“…CFH is an important member of the regulator of complement activation (RCA) group of proteins encoded within the RCA gene locus on chromosome 21 (chr 1q21–1q32) ( Lukiw and Alexandrov, 2012 ). CFH normally acts as a critical complement and innate immune system repressor, as a specific inhibitor of the C3 to C3b transition in the complement pathway ( Finehout et al, 2005 ; Abdel Rasol et al, 2015 ). Human C8G gene is located on chromosome 9q34.3, which harbours a cluster of lipocalin genes that encode a protein family that interacts with small bioactive molecules and specific cell-surface receptors ( Lögdberg and Wester, 2000 ).…”

Bioinformatics and next generation sequencing data analysis to identify key genes and pathways influencing in Parkinson’s disease

“…WNT1 [236], RTN4R [237], MEF2D [238], CX3CL1 [239], PIN1 [240], UNC13A [241], CDK5 [242], SLC30A3 [243], TUBA4A [244], BCL2A1 [245], CHI3L1 [246], SERPINA1 [247], CCR5 [248], C7 [249], S100A4 [250], C1QB [251], SPP1 [252], TLR7 [253], TLR2 [254], NEFH (neurofilament heavy chain) [255], GPNMB (glycoprotein nmb) [256], B2M [257], COX2 [258], YAP1 [259], MYD88 [260], CSF1 [261], REST (RE1 silencing transcription factor) [262], DDX58 [263], LRP4 [264] and KCNJ10 [265] contributes to the progression of amyotrophic lateral sclerosis. Previous studies had shown that the altered expression of ADCYAP1 [266], CCK (cholecystokinin) [267], LINGO1 [268], CX3CL1 [269], NECTIN1 [270], IL9 [271], TLR8 [272], CCR5 [273], NOD2 [274], C7 [275], TLR7 [276], HGF (hepatocyte growth factor) [277], TLR2 [278], PTPRC (protein tyrosine phosphatase receptor type C) [279], C3 [280], IFI16 [281], GLI1 [282], CYBB (cytochrome b-245 beta chain) [283], TLR1 [284], NEFH (neurofilament heavy chain) [285], CLIC1 [286], PDK4 [287], NFATC2 [288], GPNMB (glycoprotein nmb) [289], CD58 [290], NQO1 [291], B2M [292], ANXA2 [293], FLT1 [294], IFIH1 [295], COX2 [296], NLRC5 [297], CFH (complement factor H) [298], YAP1 [299], MYD88 [300], IQGAP1 [301], ANXA1 [302] and DDX58 [303] were closely related to the occurrence of multiple sclerosis. Studies had shown that NEUROD6 [304], CHRNA7 [305], NRGN (neurogranin) [306]...…”

Altered expression patterns of complement factor H and miR‐146a genes in acute‐chronic phases in experimental autoimmune encephalomyelitis mouse

“…However, the distinct function of miRNAs and the association with their targets for affecting immune‐related disorders is still poorly understood (Freiesleben et al, ). In the present study, we investigated the expression pattern of CFH gene in liver and brain as well as expression of miR‐146a gene in livers during acute and chronic phases among EAE mouse model of MS. Several studies have demonstrated the association of CFH gene variants with a number of immune‐related disorders (Abdel Rasol et al, ; Ingram et al, ; Ingram et al, ). In addition, researchers have measured the plasma concentrations of CFH during different MS courses.…”

“…As a component of the innate immune system, complement pathway is a key modulator of various immune and inflammatory responses as well as a potent route to demyelination and neurodegeneration (Abdel Rasol, Helmy, & Aziz, ; Griffiths, Neal, Fontaine, Das, & Gasque, ). Complement factor H (CFH) as a 155‐kDa single‐chain serum glycoprotein is synthesized in liver having a serum concentration of approximately 250 mg/L, which controls the generation as well as function of complement C3 and C5 convertase enzymes through connection to C3b fragments (Abdel Rasol et al, ; Ingram et al, ).…”

“…CFH is an essential regulator of alternative complement pathway and its involvement has been studied in a set of systemic disorders, including Alzheimer's disease, age‐related macular degeneration, membranoproliferative glomerulonephritis type II, hemolytic uremic syndrome, as well as MS (Griffiths et al, ; Ingram et al, ; Li et al, ; Lukiw & Alexandrov, ). Numerous studies have reported the role of complement in alteration of immune responses contributing to the pathological process around lesions in MS (Abdel Rasol et al, ; Griffiths et al, ; Ingram et al, ; Ingram et al, ; Ingram et al, ). On the other hand, studies measuring complement proteins in CNS tissue, plasma, and cerebrospinal fluid have suggested the use of these proteins as biomarkers of tissue inflammation in MS (Ingram et al, ; Tatomir et al, ).…”