Human cytokine gene nucleotide sequence alignments: supplement 1

Bidwell, J. L.; Wood, Natalie J.; Morse, H. R.; Olomolaiye, O. O.; Keen, Leigh; Laundy, G. J.

doi:10.1046/j.1365-2370.1999.00143.x-i2

Cited by 31 publications

(6 citation statements)

References 48 publications

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“…Indeed, a number of studies have noted that inherited variants in genes encoding for this pathway are associated with T2DM and other cardio-metabolic disorders [46-50]. We observed several associations between SNPs in genes along the innate immunity pathway and metabolic and phenotypic indices related to the risk of T2DM (Table 2).…”

Section: Discussionmentioning

confidence: 58%

Genetic polymorphisms of innate immunity-related inflammatory pathways and their association with factors related to type 2 diabetes

et al. 2011

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BackgroundType 2 diabetes mellitus (T2DM) has been linked to a state of pre-clinical chronic inflammation resulting from abnormalities in the innate immune pathway. Serum levels of pro-inflammatory cytokines and acute-phase proteins, collectively known as 'inflammatory network', are elevated in the pre-, or early, stages of T2DM and increase with disease progression. Genetic variation can affect the innate immune response to certain environmental factors, and may, therefore, determine an individual's lifetime risk of disease.MethodsWe conducted a cross-sectional study in 6,720 subjects from the TwinsUK Registry to evaluate the association between 18 single nucleotide polymorphisms (SNPs) in five genes (TLR4, IL1A, IL6, TNFA, and CRP) along the innate immunity-related inflammatory pathway and biomarkers of predisposition to T2DM [fasting insulin and glucose, HDL- and LDL- cholesterols, triglycerides (TGs), amyloid-A, sensitive C-reactive protein (sCRP) and vitamin D binding protein (VDBP) and body mass index (BMI)].ResultsOf 18 the SNPs examined for their association with nine metabolic phenotypes of interest, six were significantly associated with five metabolic phenotypes (Bonferroni correction, P ≤ 0.0027). Fasting insulin was associated with SNPs in IL6 and TNFA, serum HDL-C with variants of TNFA and CRP and serum sCRP level with SNPs in CRP. Cross-correlation analysis among the different metabolic factors related to risk of T2DM showed several significant associations. For example, BMI was directly correlated with glucose (r = 0.11), insulin (r = 0.15), sCRP (r = 0.23), LDL-C (r = 0.067) and TGs (r = 0.18) but inversely with HDL-C (r = -0.14). sCRP was also positively correlated (P < 0.0001) with insulin (r = 0.17), amyloid-A (r = 0.39), TGs (r = 0.26), and VDBP (r = 0.36) but inversely with HDL-C (r = -0.12).ConclusionGenetic variants in the innate immunity pathway and its related inflammatory cascade is associated with some metabolic risk factors for T2DM; an observation that may provide a rationale for further studying their role as biomarkers for disease early risk prediction.

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Section: Discussionmentioning

confidence: 58%

Genetic polymorphisms of innate immunity-related inflammatory pathways and their association with factors related to type 2 diabetes

et al. 2011

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“…The analysis of SNPs may (i) aid in the understanding of disease pathogenesis and risk, (ii) lead to new therapeutics and or treatment regimes and (iii) give rise to a better appreciation of the impact of clinical heterogeneity and effect this has on outcome in HSCT. Many of the reported cytokine SNPs are now well documented and are being studied in both solid organ transplant settings and autoimmune disease (Bidwell et al ., 1998, 1999).…”

Section: Cytokine Gene Polymorphism; Disease Associationmentioning

confidence: 99%

Non‐HLA genetics and predicting outcome in HSCT

Dickinson

2008

Int J Immunogenetics

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Over the last 10 years, an increasing number of studies have demonstrated the role of non-human leukocyte antigen (HLA) genes in predicting outcome in haematopoietic stem cell transplantation (HSCT). These studies have included investigations into 'single nucleotide polymorphisms (SNPs)' or microsatellites of cytokines, cytokine receptor genes, or genes associating with innate immunity. These polymorphisms give rise to functional differences in the production of e.g. cytokines, or altered function of genes which are reflected in potential up- or down- regulating of the 'cytokine storm' of GvHD. This review summarises some of the studies and relates the results to their potential for improving HSCT outcome by predicting transplant-related mortality and GvHD.

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“…Ген интерлейкина 4 (IL4) -один из ключевых геновкандидатов в результате кодирования иммунорегуляторного цитокина -медиатора воспаления, апоптоза и развития Тлимфоцитов при ПС и ПсА (Indhumathi et al, 2017). Ген, кодирующий продукцию IL4, расположен на 5q31.1хромосоме (Bidwell et al, 1999). Известны следующие точечные полиморфизмы в промоторной области гена IL4: С-1098T, С-590Т, С-285Т, А-81G, С-33Т (Kim et al, 2007).…”

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The frequency of distribution of the genotypes of the IL4 polymorphism (rs 2243250) in psoriasis and psoriatic arthritis

2019

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Psoriasis (PS) and psoriatic arthritis (PsA) are multifactorial diseases determined by the result of complex combined interaction of genetic and environmental factors. The study of genetic polymorphism of PS and PsA will allow identification of common diagnostic criteria for the progression of pathology. The aim was to analyze the frequency of distribution of genotypes of the promoter region of the C-590T (rs2243250) gene IL4 in patients with psoriasis and psoriatic. The study included patients with psoriasis (n = 49) and psoriatic arthritis (n = 48), which, taking into account the carriage of certain genotypes, are divided into groups: 1, PS, carriers of the C/С genotype (n = 31); 2, PS, carriers of the C/T and T/T genotype (n = 18); 3, PsA, carriers of the C/С genotype (n = 30); and 4, PsA, carriers of the C/T and T/T genotype (n = 18). DNA extraction from whole venous blood was performed using a standard kit with a sorbent. Genotyping allelic variants was carried out by the method of restriction analysis of amplification products (RFLP-analysis) of specific regions of the genome. In PS carriers of the C/С IL4 (rs2243250), the value of the PASI index is statistically significantly lower relative to the carriers of the C/T and T/T genotypes. A possible association of the carriage of the C/T and T/T genotypes in PsA with nail psoriasis was noted in comparison with the C/C genotype. When studying intergroup differences, it was determined that the carriage of the C/C genotype in PsA can influence the clinical course of the psoriatic process with frequent exacerbations and involvement of more than 30 % of the hairy part in the pathological process. The carriage of the C/T and T/T genotypes in PsA may be associated with the Koebner phenomenon and the metabolic disorders in comparison with PS. Differences in the carriage of the C/C genotypes relative to C/T and T/T IL4 (rs2243250) in psoriasis and psoriatic arthritis were determined. Given the extremely low number of patient groups, the results should be considered as preliminary and require further testing on much larger samples.

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Human cytokine gene nucleotide sequence alignments: supplement 1

Cited by 31 publications

References 48 publications

Genetic polymorphisms of innate immunity-related inflammatory pathways and their association with factors related to type 2 diabetes

Genetic polymorphisms of innate immunity-related inflammatory pathways and their association with factors related to type 2 diabetes

Non‐HLA genetics and predicting outcome in HSCT

The frequency of distribution of the genotypes of the IL4 polymorphism (rs 2243250) in psoriasis and psoriatic arthritis

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