Analysis of chosen SNVs in GPC5, CD58 and IRF8 genes in multiple sclerosis patients

Chorąży, Monika; Wawrusiewicz‐Kurylonek, Natalia; Posmyk, Renata; Zajkowska, Agata; Kapica-Topczewska, Katarzyna; Krętowski, Adam; Kochanowicz, Jan; Kułakowska, Alina

doi:10.1016/j.advms.2018.12.004

Cited by 9 publications

(10 citation statements)

References 31 publications

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“…Inf). Genes in Group IV included those coding for two core proteins ( GPC2 90-92 and GPC5 93-95 ), three NDSTs ( NDST2 96-98 , NDST3 99-101 , and NDST4 102,103 ), two HS6STs ( HS6ST2 104,105 , HS6ST3 106,107 ), all HS3STs ( HS3ST1 108-110 , HS3ST2 111,112 , HS3ST3A1 113-115 , HS3ST3B1 115 , HS3ST4 116 , HS3ST5 117 , and HS3ST6 118,119 ), and one HS levels regulating genes (EXTL1 120 ). Based in current available data and literature records, it appeared that, at least in the absence of instigating stimuli, these genes are non-causative of disease and are not essential for normal development and homeostasis (Supp.…”

Section: Resultsmentioning

confidence: 99%

“…Similarly, the kidney, testis, and adrenal and thyroid glands predominant GPC5 (Fig. 4) was involved in podocyte response to injury and nephropathy progression in type 2 diabetes patients 135 and SNP was associated with acquired nephrotic syndrome, autoimmune thyroid disease, and risk for multiple sclerosis [93][94][95] . Similarly, syndecans are required for appropriate tissue response to inflammation, infection, wound healing, angiogenesis, neurological stimuli, etc.…”

Section: Non-essential Cell Membrane-associated Hspg Core Proteinsmentioning

confidence: 93%

“…Kidney and testis. [93][94][95] glypican, at least glypicans 3, 4 and 6, are the main HSPG that carry the HS involved in essential cell signaling. Whether these HS are made by the also ubiquitous HS biosynthetic genes is unknown.…”

Section: Gpc5mentioning

confidence: 99%

“…Inf). Genes in Group IV included those coding for two core proteins (GPC2 [90][91][92] and GPC5 [93][94][95] ), three NDSTs (NDST2 [96][97][98] , 7 GPC2 1 9 0.6 0.7 0.9 1 19 2 0.5 0.6 nd nd nd 0.9 nd 0.9 0.7 4 3 2 0.5 nd 0.9 nd 13…”

Section: Group IV -Non-essential Hspg Biosynthetic Genes That Are Res...mentioning

confidence: 99%

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Variability in proteoglycan biosynthetic genes reveals new facets of heparan sulfates diversity. A systematic review and analysis

Ouidja

Biard

Chantepie

et al. 2022

Preprint

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Proteoglycans are complex macromolecules formed of glycosaminoglycan chains covalently linked to core proteins through a linker tetrasaccharide common to heparan sulfate proteoglycans (HSPG) and chondroitin sulfate proteoglycans (CSPG). Biosynthesis of a single proteoglycan requires the expression of dozens of genes, which together create the large structural and functional diversity reflected by the numerous diseases or syndromes associated to their genetic variability. Among proteoglycans, HSPG are the most structurally and functionally complex. To decrease this complexity, we retrieved and linked information on pathogenic variants, polymorphism, expression, and literature databases for 50 genes involved in the biosynthesis of HSPG core proteins, heparan sulfate (HS) chains, and their linker tetrasaccharide. This resulted in a new gene organization and biosynthetic pathway representation in which the phenotypic continuum of disorders as linkeropathies and other pathologies could be predictable. Moreover, ubiquitous NDST1, GLCE, HS2ST1, and HS6ST1 appeared to generate ubiquitous heparan sulfate (HS) sequences essential for normal development and homeostasis, whereas the tissue restricted NDST2-4, HS6ST2-3, and HS3ST1-6 appeared to generate specialized HS sequences mainly involved in responsiveness to stimuli. Supported by data on genetic polymorphism and clinical variants, we afford a new vision of HSPG involvement in homeostasis, disease, vulnerability to disease, and behavioral disorders.

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Section: Resultsmentioning

confidence: 99%

Section: Non-essential Cell Membrane-associated Hspg Core Proteinsmentioning

confidence: 93%

Section: Gpc5mentioning

confidence: 99%

Section: Group IV -Non-essential Hspg Biosynthetic Genes That Are Res...mentioning

confidence: 99%

See 2 more Smart Citations

Variability in proteoglycan biosynthetic genes reveals new facets of heparan sulfates diversity. A systematic review and analysis

Ouidja

Biard

Chantepie

et al. 2022

Preprint

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“…Molecular studies were conducted in a group of 94 subjects with MS (47 males and 47 females, mean age 41.15 ± 9.74y, Table 1 ), which has been previously described in detail [ 27 , 28 ]. The control group consisted 160 unrelated healthy adults (85 males, 75 females; mean age 37.6 ± 2.16y) with no family history of autoimmune diseases.…”

Section: Methodsmentioning

confidence: 99%

Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population

Chorąży

Wawrusiewicz‐Kurylonek

Adamska-Patruno

et al. 2020

Journal of Immunology Research

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Purpose. Multiple sclerosis (MS) is an autoimmune disease, and genetic factors play an important role in its pathogenesis and progression. The aim of our study was to evaluate the frequencies of alleles and genetic variants of the T-cell homeostasis-related genes, in subjects with MS, as well as to investigate the association with MS clinical manifestations and disability. Methods. 94 subjects with MS and 160 healthy individuals have been genotyped for seven common single-nucleotide variants in IL-2RA, CTLA4, CD40, and PADI4 genes. The ages of onset, duration of the disease, and clinical condition of the MS subjects were analysed. We used the Chi2 test confirmed with Fisher’s exact test for statistical analysis. Results. The frequency of allele T and CT/TT genotypes (rs7093069) in the IL2RA gene, as well as the T allele and CT/TT genotypes in rs12722598, were significantly higher in the control group. The significant differences between studied groups we also found for the G allele and GG/GA genotypes of rs3087243 in CTLA4 gene, which were more common among the control group. The heterozygous genotype TC (rs1883832) of CD40 gene was more common in the control subjects, and the frequency of the alleles and genotypes in the rs1748033 of the PADI4 gene did not differ between the studied groups. Between the studied genotypes, we did not observe any significant differences in the age of onset and duration of disease, including sex stratification. Conclusion. Our results highlight the protective role of some of the T-cell homeostasis-related genetic variants in MS development, but not in its clinical manifestation.

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Identification of candidate SNPs and genes associated with anti-RGNNV using GWAS in the red-spotted grouper, Epinephelus akaara

Yang

Wang

Chen

et al. 2021

Fish & Shellfish Immunology

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Analysis of chosen SNVs in GPC5, CD58 and IRF8 genes in multiple sclerosis patients

Cited by 9 publications

References 31 publications

Variability in proteoglycan biosynthetic genes reveals new facets of heparan sulfates diversity. A systematic review and analysis

Variability in proteoglycan biosynthetic genes reveals new facets of heparan sulfates diversity. A systematic review and analysis

Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population

Identification of candidate SNPs and genes associated with anti-RGNNV using GWAS in the red-spotted grouper, Epinephelus akaara

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