IL23RandIL12BSNPs and Haplotypes Strongly Associate with Crohn's Disease Risk in a New Zealand Population

DNA samples from 339 Crohn's disease (CD) and 407 randomly selected controls from the Auckland (New Zealand) IBD project, were genotyped for five common single nucleotide polymorphisms inIL-23R(rs11805303, rs7517847, rs1343151, rs11209026, and rs10889677) and two inIL-12B(rs1363670 and rs6887695). While theIL-12Bvariants did not show an overall association and otherIL23Rvariants led to minor changes in the risk of CD, rs1343151 and/or rs7517847 variants in theIL-23Rgene strongly reduced the risk of developing CD at both allelic and genotype levels. A significantly decreased risk of first diagnosis of childhood CD was observed in individuals carrying the A allele of rs1343151, or between 17–40 y in individuals carrying the G allele in rs7517847 ofIL-23R. A significantly decreased risk of ileocolonic or structuring disease was observed in individuals carrying the A allele in either rs11209026 or rs1343151, or the G allele in rs7517847 ofIL-23R, and when such individuals did develop the disease, they were unlikely to require a bowel resection. Certain haplotypes very strongly modified risk. There was evidence for interactions ofIL-23Rvariants with theNOD2wild-type (d/d) genotype. Down-regulating the function of theIL-23Rgene may decrease CD risk in the normal population.

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Genetic factors in chronic inflammation: Single nucleotide polymorphisms in the STAT-JAK pathway, susceptibility to DNA damage and Crohn's disease in a New Zealand population

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis ◽

10.1016/j.mrfmmm.2010.01.017 ◽

2010 ◽

Vol 690 (1-2) ◽

pp. 108-115 ◽

Cited By ~ 71

Author(s):

Lynnette R. Ferguson ◽

Dug Yeo Han ◽

Alan G. Fraser ◽

Claudia Huebner ◽

Wen Jiun Lam ◽

...

Keyword(s):

Dna Damage ◽

Crohn’S Disease ◽

New Zealand ◽

Crohn's Disease ◽

Single Nucleotide Polymorphisms ◽

Chronic Inflammation ◽

Genetic Factors ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Zealand Population

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Single Nucleotide Polymorphisms in Selected Genes in Inflammatory Bowel Disease

BioMed Research International ◽

10.1155/2018/6914346 ◽

2018 ◽

Vol 2018 ◽

pp. 1-5 ◽

Cited By ~ 4

Author(s):

Ewa Dudzińska ◽

Magdalena Gryzinska ◽

Janusz Kocki

Keyword(s):

Ulcerative Colitis ◽

Inflammatory Bowel Disease ◽

Crohn’S Disease ◽

Crohn's Disease ◽

Bowel Disease ◽

Disease Patient ◽

Nucleotide Polymorphisms ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Inflammatory Bowel

Introduction. Inflammatory bowel disease (IBD) is a complicated, multifunctional disorder characterized by chronic, recurring inflammation of the digestive tract. The two main types of IBD are ulcerative colitis (UC) and Crohn’s disease (CD). The aim of the study was to determine single nucleotide polymorphism in fragments of the genes CARD15/NOD2 and DLG5 in patients from the Lublin Voivodeship. Patients and Methods. The study was carried out in Lublin (Poland) in 2016. 27 individuals participated in the research. The research group comprised 9 patients with a diagnosis of Crohn’s disease and 9 with ulcerative colitis, aged 20 to 48, and 9 healthy volunteers. Results. No SNPs were confirmed for the CARD15/NOD2 gene fragment, but a substitution (T>C) was found in the DLG5 gene in a Crohn’s disease patient. Conclusion. Absence of extraintestinal symptoms in patients with Crohn’s disease may be associated with the absence of CARD15/NOD2 SNPs. The study suggests that SNPs (T>C substitution) affect the function of the DLG5 protein and thus play a role in the development of IBD, in particular Crohn’s disease. The analysis presented is a pilot study due to the small number of samples.

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P440 Identification of DMBT1 single nucleotide polymorphisms and their haplotypes as novel susceptibility variants for Crohn's disease and ulcerative colitis

Journal of Crohn s and Colitis ◽

10.1016/s1873-9946(12)60459-0 ◽

2012 ◽

Vol 6 ◽

pp. S184

Author(s):

J. Diegelmann ◽

D. Czamara ◽

E. Le Bras ◽

E. Zimmermann ◽

T. Olszak ◽

...

Keyword(s):

Ulcerative Colitis ◽

Crohn’S Disease ◽

Crohn's Disease ◽

Single Nucleotide Polymorphisms ◽

Nucleotide Polymorphisms ◽

Single Nucleotide

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Identification of DMBT1 single nucleotide polymorphisms and their haplotypes as novel susceptibility variants for Crohn's disease and ulcerative colitis influencing DMBT1 expression via the transcription factors CREB1 and ATF-2

Zeitschrift für Gastroenterologie ◽

10.1055/s-0032-1324115 ◽

2012 ◽

Vol 50 (08) ◽

Author(s):

J Diegelmann ◽

E Le Bras ◽

A Franke ◽

J Glas ◽

S Brand

Keyword(s):

Ulcerative Colitis ◽

Transcription Factors ◽

Crohn’S Disease ◽

Crohn's Disease ◽

Single Nucleotide Polymorphisms ◽

Nucleotide Polymorphisms ◽

Single Nucleotide

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Relationship between the IL23R SNPs and Crohn’s Disease Susceptibility and Phenotype in the Polish and Bosnian Populations: A Case-Control Study

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph16091551 ◽

2019 ◽

Vol 16 (9) ◽

pp. 1551

Author(s):

Krzysztof Borecki ◽

Iwona Zawada ◽

Nermin Nusret Salkić ◽

Beata Karakiewicz ◽

Grażyna Adler

Keyword(s):

Crohn’S Disease ◽

Crohn's Disease ◽

Case Control Study ◽

Age Of Onset ◽

Severe Disease ◽

Polish Population ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Increased Risk ◽

Control Study

It is suggested that IL-23/IL-17 axis and single nucleotide polymorphisms (SNPs) of IL23R may have crucial role in pathogenesis of Crohn’s disease (CD). Thus, we sought to assess the IL23R SNPs contribution to susceptibility and phenotype of CD. We recruited 117 CD subjects and 117 controls from Poland and 30 CD subjects and 30 controls from Bosnia and Herzegovina (B&H). Two common IL23R SNPs: rs1004819, rs7517847 were genotyped using TaqMan SNP assays. In the Polish population it was found that allele rs1004819: A increases the risk of CD, while allele rs7517847: A is protective against disease development. In Poles the co-carriage of two IL23R risk genotypes was associated with increased risk of CD. A significantly increased risk of CD early onset was observed in Poles carrying at least one rs7517847: G allele. It was also found that IL23R SNPs may be associated with structuring/penetrating CD behavior, as alleles rs1004819: A and rs7517847: G were significantly less frequent in patients without complications, from Poland and B&H, respectively. Allele rs1004819: A was also significantly more frequent in Poles with penetrating CD. These results confirm IL23R SNPs contribution to CD susceptibility in the Polish population and suggest their impact on early age of onset and more severe disease course.

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