TIM-3 rs1036199 polymorphism increases susceptibility to autoimmune diseases: evidence based on 4200 subjects

Liu, Rongzeng; Wang, Xing; Chen, Xiafei; Wang, Shengnan; Zhang, Heqian

doi:10.1042/bsr20181235

Cited by 8 publications

(10 citation statements)

References 36 publications

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“…OR with P < 0.05 was considered significant. χ 2 ‐Based Q test was used to evaluate heterogeneity between the individual studies, with P < 0.1 considered as significant . When the heterogeneity was significant, the random eﬀects model was used to analyze the pooled ORs.…”

Section: Methodsmentioning

confidence: 99%

Quantitative assessment of the association between TAP2 rs241447 polymorphism and cancer risk

Liu

Chen

2019

J of Cellular Biochemistry

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The findings regarding the relation of transporter associated with antigen processing (TAP) to cancer risk have been inconsistent. The aim of this study was to comprehensively evaluate the association between TAP2 rs241447 polymorphism and cancer susceptibility. A meta‐analysis of nine investigations with 2800 cases and 1620 controls was conducted to gain a better understanding of the effect of TAP2 rs241447 polymorphism on cancer risk. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to evaluate the strength of the correlation between TAP2 gene polymorphism and cancer susceptibility. The pooled results from TAP2 rs241447 polymorphism showed a decreased risk of cancer in two dominant genetic models (GG + AG vs AA: OR = 0.86, 95% CI, 0.75‐0.99; AG vs AA: OR = 0.85, 95% CI, 0.73‐0.99). From the subgroup analysis, decreased cancer susceptibility was found in Caucasians (GG + AG vs AA: OR = 0.82, 95% CI, 0.68‐0.99), especially among the subgroup of cervical carcinoma (GG + AG vs AA: OR = 0.82, 95% CI, 0.69‐0.96; AG vs AA: OR = 0.83, 95% CI, 0.70‐0.99). Overall, the results suggest that TAP2 rs241447 polymorphism contributes to decreased cancer susceptibility.

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Section: Methodsmentioning

confidence: 99%

Quantitative assessment of the association between TAP2 rs241447 polymorphism and cancer risk

Liu

Chen

2019

J of Cellular Biochemistry

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“…The two functional TIM-3 SNPs rs1036199 and rs10515746 have been investigated in association with autoimmune diseases, but the influence of these specific SNPs on the progression and outcome of sepsis remains unclear [32]. As the primary outcome, this study suggests that genetic variations at the TIM-3 rs1036199 and rs10515746 positions are significantly associated with 28-day mortality in patients with sepsis.…”

Section: Discussionmentioning

confidence: 81%

“…In humans, single nucleotide polymorphisms (SNPs) in the coding and noncoding regions of the TIM-3 gene, also known by the gene name HAVCR2 (hepatitis A virus cellular receptor 2), have been linked to several allergic and autoimmune diseases [21,32,33]. Two important SNPs in the HAVCR2 region located on chromosome 5 were examined in the present study.…”

Section: Introductionmentioning

confidence: 99%

“…Two important SNPs in the HAVCR2 region located on chromosome 5 were examined in the present study. Both the functional TIM-3 rs1036199 SNP, which encodes a missense mutation, and the TIM-3 rs10515746 SNP, an upstream variant in the promoter region, have previously been associated with increased susceptibility to autoimmune diseases such as rheumatoid arthritis and multiple sclerosis [21,[32][33][34][35].…”

Section: Introductionmentioning

confidence: 99%

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TIM-3 Genetic Variants Are Associated with Altered Clinical Outcome and Susceptibility to Gram-Positive Infections in Patients with Sepsis

Mewes

Alexander

Büttner

et al. 2020

IJMS

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Background: Previous studies have reported the fundamental role of immunoregulatory proteins in the clinical phenotype and outcome of sepsis. This study investigated two functional single nucleotide polymorphisms (SNPs) of T cell immunoglobulin and mucin domain-containing protein 3 (TIM-3), which has a negative stimulatory function in the T cell immune response. Methods: Patients with sepsis (n = 712) were prospectively enrolled from three intensive care units (ICUs) at the University Medical Center Goettingen since 2012. All patients were genotyped for the TIM-3 SNPs rs1036199 and rs10515746. The primary outcome was 28-day mortality. Disease severity and microbiological findings were secondary endpoints. Results: Kaplan–Meier survival analysis demonstrated a significantly lower 28-day mortality for TIM-3 rs1036199 AA homozygous patients compared to C-allele carriers (18% vs. 27%, p = 0.0099) and TIM-3 rs10515746 CC homozygous patients compared to A-allele carriers (18% vs. 26%, p = 0.0202). The TIM-3 rs1036199 AA genotype and rs10515746 CC genotype remained significant predictors for 28-day mortality in the multivariate Cox regression analysis after adjustment for relevant confounders (adjusted hazard ratios: 0.67 and 0.70). Additionally, patients carrying the rs1036199 AA genotype presented more Gram-positive and Staphylococcus epidermidis infections, and rs10515746 CC homozygotes presented more Staphylococcus epidermidis infections. Conclusion: The studied TIM-3 genetic variants are associated with altered 28-day mortality and susceptibility to Gram-positive infections in sepsis.

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“…The functional consequence of this change has not been reported so far but it can be postulated that this variant may affect the mucin domain ( 59 ). A meta-analysis aimed at evaluation of association between the rs1036199 and autoimmune diseases (ADs) mainly in Asian populations pointed to the rs1036199*G allele as a risk factor increasing susceptibility to ADs ( 225 ). The possible functional relevance of HAVCR SNPs was summarized in Table 2 .…”

Section: T Cell Immunoglobulin and Mucin-domain Containing-3mentioning

confidence: 99%

Immune Checkpoint Molecules—Inherited Variations as Markers for Cancer Risk

2021

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In recent years, immunotherapy has been revolutionized by a new approach that works by blocking receptors called immune checkpoints (IC). These molecules play a key role in maintaining immune homeostasis, mainly by suppressing the immune response and by preventing its overactivation. Since inhibition of the immune response by IC can be used by cancer to avoid recognition and destruction by immune system, blocking them enhances the anti-tumor response. This therapeutic approach has brought spectacular clinical effects. The ICs present heterogeneous expression patterns on immune cells, which may affect the effectiveness of immunotherapy. The inherited genetic variants in regulatory regions of ICs genes can be considered as potential factors responsible for observed inter-individual differences in ICs expression levels on immune cells. Additionally, polymorphism located in exons may introduce changes to ICs amino acid sequences with potential impact on functional properties of these molecules. Since genetic variants may affect both expression and structure of ICs, they are considered as risk factors of cancer development. Inherited genetic markers such as SNPs may also be useful in stratification patients into groups which will benefit from particular immunotherapy. In this review, we have comprehensively summarized the current understanding of the relationship between inherited variations of CTLA-4, PDCD1, PD-L1, BTLA, TIM-3, and LAG-3 genes in order to select SNPs which can be used as predictive biomarkers in personalized evaluation of cancer risk development and outcomes as well as possible response to immunotherapy.

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TIM-3 rs1036199 polymorphism increases susceptibility to autoimmune diseases: evidence based on 4200 subjects

Cited by 8 publications

References 36 publications

Quantitative assessment of the association between TAP2 rs241447 polymorphism and cancer risk

Quantitative assessment of the association between TAP2 rs241447 polymorphism and cancer risk

TIM-3 Genetic Variants Are Associated with Altered Clinical Outcome and Susceptibility to Gram-Positive Infections in Patients with Sepsis

Immune Checkpoint Molecules—Inherited Variations as Markers for Cancer Risk

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