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rs2413739
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of the study was to validate the impact of the single-nucleotide polymorphism rs2413739 (T > C) in the PACSIN2 gene on thiopurines pharmacological parameters and clinical response in an Italian cohort of pediatric patients with acute lymphoblastic leukemia (ALL) and inflammatory bowel disease (IBD).
|
31792371 |
2019 |
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rs2292832
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|
|
0.020 |
GeneticVariation |
BEFREE |
Previous studies have linked miRNA-149 to cancers, and rs2292832 T>C is related to allergic diseases and inflammatory bowel disease, which both show immune system disorders and coronary artery disease.
|
31785027 |
2019 |
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rs111033623
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|
|
0.010 |
GeneticVariation |
BEFREE |
HSCT is the only curative therapy for XLP and this therapy should be urgently considered.What is Known:• SAP and XIAP deficiencies share common clinical feature, HLH, whereas they also have their own specific manifestations.• IBD affects 25-30% of XIAP-deficient patients, which has been reported in other countries especially in European country and Japan.What is New:• This is the largest patient cohort study of XLP in China.• We firstly summarized the clinical features and outcomes of Chinese XIAP-deficient patients and found only 1 in 22 patients developed IBD and diet background may contribute to it; Asian SAP-deficient patients carrying SH2D1A R55X mutation were more prone to HLH.
|
31754776 |
2020 |
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rs11209026
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|
|
0.900 |
GeneticVariation |
BEFREE |
Our meta-analysis demonstrated that the rs11209026 polymorphism might be a protective factor against developing IBD, while the rs10889677 polymorphism might be a risk factor for IBD.
|
31728561 |
2020 |
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rs10889677
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our meta-analysis demonstrated that the rs11209026 polymorphism might be a protective factor against developing IBD, while the rs10889677 polymorphism might be a risk factor for IBD.
|
31728561 |
2020 |
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rs2241880
|
|
|
0.070 |
GeneticVariation |
BEFREE |
SNPs rs1800896, rs3024505 (IL-10); rs11209026 (IL23R); rs2066844, rs2066845 (NOD-2), and rs2241880 (ATG16L1) were assessed in 93 patients with IBD and 200 healthy controls by hybridization probes and quantitative PCR.
|
31651650 |
2020 |
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rs2097432
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To evaluate the association between HLADQA1*05 and infliximab antibody formation, infliximab loss of response, treatment discontinuation and adverse drug events in patients with inflammatory bowel disease (IBD) METHODS: In a retrospective cohort study, infliximab-exposed patients with IBD (n = 262) were screened for the genetic variation, HLADQA1*05A>G (rs2097432).
|
31650614 |
2020 |
|
rs7134599
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The significance of these results is amplified by studies suggesting that a single nucleotide polymorphism in IFNG-AS1, rs7134599, was associated with both subtypes of IBD patients independently of race.
|
31545920 |
2020 |
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rs3129891
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|
|
0.010 |
GeneticVariation |
BEFREE |
Mutant genotypes at rs2066844, rs2066845, rs2066847 were not found, and only SNPs rs3129891 and rs77005575 were associated with enteric α-defensin expression in colonic IBD.
|
31403980 |
2019 |
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rs77005575
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutant genotypes at rs2066844, rs2066845, rs2066847 were not found, and only SNPs rs3129891 and rs77005575 were associated with enteric α-defensin expression in colonic IBD.
|
31403980 |
2019 |
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rs34436714
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association between genotypes of rs34436714 of NLRP12 and serum tumor necrosis factor-alpha in inflammatory bowel disease: A case-control study.
|
31169706 |
2019 |
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rs77375493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, despite the absence of JAK2 V617F mutation in patients with IBD, the increased gene expression of JAK2 can be explained by another molecular mechanism such as regulation of gene expression at the transcriptional level which may play crucial roles in the pathogenesis of IBD.
|
31069840 |
2019 |
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rs116855232
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Our results indicate that careful monitoring of leukopenia and dose adjustment are necessary throughout treatment in IBD patients heterozygous for the NUDT15 R139C.
|
31045285 |
2019 |
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rs731236
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The aim of this study was to investigate the association of the TaqI polymorphism (rs731236, c.1056T >C) in the VDR gene with serum vitamin D concentration and bone mineral density (BMD) in patients with IBD.
|
30929318 |
2019 |
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rs6271
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A single non-synonymous SNP, rs6271 (Arg549Cys), had a significant association with IBD patients; the odds ratio was a 5.6 times higher SNP frequency in IBD patients compared to controls (p = 0.002).
|
30817802 |
2019 |
|
rs11969064
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
Association of Genetic Variants in NUDT15 With Thiopurine-Induced Myelosuppression in Patients With Inflammatory Bowel Disease.
|
30806694 |
2019 |
|
rs4986790
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Moreover, the TLR4 rs4986790 polymorphism was significantly correlated with the risk of IBD in West Asians, while the TLR9 rs352140 polymorphism was significantly associated with the risk of IBD in Africans.
|
30617966 |
2019 |
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rs352140
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|
|
0.020 |
GeneticVariation |
BEFREE |
Moreover, the TLR4 rs4986790 polymorphism was significantly correlated with the risk of IBD in West Asians, while the TLR9 rs352140 polymorphism was significantly associated with the risk of IBD in Africans.
|
30617966 |
2019 |
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rs5743611
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant associations with the risk of IBD were detected for the TLR1 rs5743611, TLR4 rs4986790, TLR4 rs4986791, and TLR6 rs5743810 polymorphisms in overall analyses.
|
30617966 |
2019 |
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rs5743810
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further subgroup analyses according to ethnicity of participants revealed that the TLR1 rs5743611, TLR4 rs4986790, TLR4 rs4986791, TLR6 rs5743810, and TLR9 rs352140 polymorphisms were significantly associated with the risk of IBD in Caucasians.
|
30617966 |
2019 |
|
rs8005161
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The T allele of rs8005161 might confer a more severe disease course in IBD patients.
|
30616622 |
2019 |
|
rs601338
|
|
|
0.020 |
GeneticVariation |
BEFREE |
CONCLUSIONS Fucosyltransferase 2 gene (rs601338) polymorphism is associated with susceptibility to IBD, UC, and CD in the Chinese population, but these results might not be generalizable to other ethnic populations.
|
30615603 |
2019 |
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rs6795970
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The allelic frequency of only one non-synonymous SNP (rs6795970 [<i>SCN10A</i>]) approached significance in hypoalgesic IBD patients when compared to other IBD patients (<i>p</i> = 0.096, Fisher's exact test).
|
30538988 |
2018 |
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rs2241880
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Cells harbouring the ATG16L1 T300A allele associated with inflammatory bowel disease were also found to accumulate cholesterol and be defective in repair, linking a common inflammatory disease to plasma membrane integrity.
|
30478389 |
2018 |
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rs10500264
|
|
|
0.820 |
GeneticVariation |
BEFREE |
One SNP (rs4986791 in the TLR-4 locus) and 2 SNPs (rs6785049 in the Pregnane-x-receptor gene and rs10500264 in the SLCA10 gene) were associated with a change in albumin and hemoglobin over time respectively in our IBD cohort.
|
30423580 |
2019 |