Association of IL-1F7 gene with susceptibility to human leukocyte antigen-B27 positive Ankylosing spondylitis in Han Chinese population

Pan, Faming; Liao, Fangfang; Xia, Guo; Ge, Rui; Yang, Mei; Tang, Xian Fa; Pan, Heping; Ye, Dong-Qing; Zou, Yanfeng; Xu, Shiqi; Xu, Jianhua

doi:10.1016/j.cca.2009.10.014

Cited by 18 publications

(17 citation statements)

References 13 publications

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“…Both of the SNPs were missense mutations resulting in different amino acid codons (rs3811046: Gly/Val; rs3811047:Thr/Ala). Polymorphism of rs3811047 has been implicated in susceptibility to RA (Pei et al 2012, Shi et al 2013, AS (Pan et al 2010), and gastric cardiac adenocarcinoma . A study which recruited subjects (276 controls and 276 RA patients) from central plains of Chinese Han population indicated no significant correlation between RA susceptibility and rs3811047 SNP in IL37 gene; however, it also showed that RA patients with A allele were significantly better than those without A allele in joint swelling index, rest pain, HAQ scoring and blood sedimentation (Shi et al 2013).…”

Section: Discussionmentioning

confidence: 99%

“…According to previously published literature, polymorphisms of these locis may also be associated with the susceptibility to AS or RA (Pan et al 2010, Pei et al 2012. All the tag SNPs met the following criteria: minor allele frequency (MAF)O0.05, Hardy-Weinberg equilibrium (HWE) with PO0.001 and logarithm of odds (LOD)O3.0.…”

Section: Snp Selection and Genotypingmentioning

confidence: 99%

“…Recently, clinical studies have demonstrated that the IL37 gene SNP rs3811047 GOA is related to the susceptibility to autoimmune diseases, such as ankylosing spondylitis (AS) (Pan et al 2010), disease activity of rheumatoid arthritis (RA) (Pei et al 2012), and gastric cardiac adenocarcinoma .…”

Section: Introductionmentioning

confidence: 99%

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Polymorphism of IL37 gene as a protective factor for autoimmune thyroid disease

Ni¹,

Meng²,

Song³

et al. 2015

Journal of Molecular Endocrinology

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Autoimmune thyroid disease (AITD) comprises Graves' disease (GD) and Hashimoto's thyroiditis (HT). IL37 has been recently proved to be a natural suppressor for innate immunity and acquired immunity. Therefore, this study was conducted to identify the association of IL37 genetic polymorphisms with AITD in Chinese Han population. Polymorphisms of rs3811046/rs3811047/rs2723176/rs272186 in the IL37 gene were assessed in a case-control study comprising 701 GD patients, 301 HT patients and 939 controls. Genetic variants were genotyped by multiplex polymerase chain reaction and ligase detection reaction. The frequencies of the minor allele A of rs2723176 and A of rs2723186 were significantly lower in the GD patients than in the controls (PZ0.014, ORZ0.774; PZ0.014, ORZ0.777). After gender stratification, the rs3811046 G allele and the rs3811047/rs2723186 A allele were both significantly associated with a decreased risk of GD in female patients (PZ0.030, ORZ0.777; PZ0.023, ORZ0.774; PZ0.029, ORZ0.761). However, none of the four single nucleotide polymorphisms of IL37 gene showed any significant association with HT. Moreover, haplotype analysis revealed the GCG haplotype conferred increased risk for GD as a whole and in female GD patients (ORZ1.213; ORZ1.320). The ACG haplotype was associated with an increased risk of HT as a whole (ORZ1.567) and in male GD patients (ORZ1.820). In contrast, the AAA haplotype showed a protective role for GD as a whole (ORZ0.760) and in female GD patients (ORZ0.765). Our study strongly supports that the IL37 gene variants are associated with the susceptibility to AITD.

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Section: Discussionmentioning

confidence: 99%

Section: Snp Selection and Genotypingmentioning

confidence: 99%

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Polymorphism of IL37 gene as a protective factor for autoimmune thyroid disease

Ni¹,

Meng²,

Song³

et al. 2015

Journal of Molecular Endocrinology

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“…Variant 2 has five amino acid difference with Reference IL37 : P50R, Asn50S, P108L, Y164R, and D218N. IL‐37 gene expression is elevated in psoriatic arthritis, ankylosing spondylitis, and rheumatoid arthritis . A single nucleotide polymorphism (SNP) in IL37b (rs381107) results in a mutation at amino acid 42 (T to A), which is associated with disease activity in autoimmune diseases.…”

Section: In Silico Discovery Of Il‐37mentioning

confidence: 99%

Suppression of innate inflammation and immunity by interleukin‐37

et al. 2016

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IL-37 is unique in the IL-1 family in that unlike other members of the family, IL-37 broadly suppresses innate immunity. IL-37 can be elevated in humans with inflammatory and autoimmune diseases where it likely functions to limit inflammation. Transgenic mice expressing human IL-37 (IL37-tg) exhibit less severe inflammation in models of endotoxin shock, colitis, myocardial infarction, lung and spinal cord injury. IL37-tg mice have reduced antigen-specific responses and dendritic cells (DCs) from these mice exhibit characteristics of tolerogenic DCs. Compared to aging wild-type (WT) mice, aging IL37-tg mice are protected against B-cell leukemogenesis and heart failure. Treatment of WT mice with recombinant human IL-37 has been shown to be protective in several models of inflammation and injury. IL-37 binds to the IL-18 receptor but then recruits the orphan IL-1R8 (formerly TIR8 or Sin order function as an inhibitor. Here we review the discovery of IL-37, its production, release and mechanisms by which IL-37 reduces inflammation and suppresses immune responses. The data reviewed here suggest a therapeutic potential for IL-37.

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“…Previous reports suggested that IL37 was involved in the development of various inflammatory conditions, including ankylosing spondylitis and rheumatoid arthritis. [23][24][25] However, all these studies were based on genotyping rs3811047:A4G, which result in c.124A4G (p.(Thr42Ala)) substitution and does not differentiate between major IL37 variants identified in this study. On the basis of our data, we recommend genotyping any one of the five non-synonymous SNPs, rs2708943:C4G, rs2723183: A4G, rs2723187:C4T, rs2708947:C4T or rs2723192:A4G, to differentiate between IL37 haplogroups 1 and 2, which differ at least at five non-synonymous sites and probably result in different susceptibility to human diseases.…”

Section: Discussionmentioning

confidence: 86%

Interleukin-37 gene variants segregated anciently coexist during hominid evolution

et al. 2015

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IL37 is a member of IL-1 cytokine family but conveys anti-inflammatory functions. The biological characteristic and genetic heterogeneity of IL37 are not fully understood yet. Here using the whole-genome sequencing data from 1000 Genomes Project, we performed population and evolutionary genetic analysis of human IL37 gene. First, 2184 IL37 gene sequences from different human populations were retrieved. The IL37 protein sequences were inferred from the coding DNA sequences and multiple species alignment was made. Then, the phylogenetic tree of IL37 was built and dN/dS ratios were calculated for each evolutionary branch, the classic McDonald and Kreitman test was also performed. Next, we conducted intraspecific evolutionary genetic analysis and built the genealogy network of 116 unique IL37 haplotypes through median-joining network analysis. Finally, we compared IL37 sequences between the modern and archaic humans. Our results for the first time provide solid evidence that common IL37 variants other than NCBI reference sequence are present worldwide. Our data also supports that IL37 variants are shaped and maintained by selection instead of neutral evolution. We further identified that human IL37 variants consist of two major haplogroups and their presence in archaic humans corroborates its ancient origin in hominid evolution. In conclusion, these data indicate that common IL37 variants are maintained among human populations by selective force, suggesting their potential involvements in immune regulation and human diseases. In addition, the ancient history of IL37 variants reveals interesting insight into the complicated human evolutionary history.

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Association of IL-1F7 gene with susceptibility to human leukocyte antigen-B27 positive Ankylosing spondylitis in Han Chinese population

Cited by 18 publications

References 13 publications

Polymorphism of IL37 gene as a protective factor for autoimmune thyroid disease

Polymorphism of IL37 gene as a protective factor for autoimmune thyroid disease

Suppression of innate inflammation and immunity by interleukin‐37

Interleukin-37 gene variants segregated anciently coexist during hominid evolution

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