Genetics of inflammatory bowel disease: scientific and clinical implications

Satsangi, Jack; Morecroft, James A.; Shah, Neha; Nimmo, Elaine R.

doi:10.1053/bega.2002.0349

Cited by 60 publications

(60 citation statements)

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“…3,4 While the aetiology of CD remains unknown, it is now clear that gene-environment interactions are central to understanding disease pathogenesis. 5 Detailed evaluation of the susceptibility locus on chromosome 16 has lead to the identification of the inflammatory bowel disease (IBD)1 gene as NOD2 (caspase recruitment domain (CARD)15). 6,7 NOD2/CARD15 contains a highly conserved CARD linked to a nucleotide-binding domain, which are thought to regulate apoptosis and nuclear factor-kB (NFkB) activation.…”

Section: Introductionmentioning

confidence: 99%

NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?

et al. 2004

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Section: Introductionmentioning

confidence: 99%

NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?

et al. 2004

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“…[1][2][3][4] Epidemiologic, molecular, and clinical studies have proven that genetic susceptibility combined with environmental interaction are central to the pathogenesis of IBD. 5 Genome-wide scanning has identified susceptibility loci for CD on chromosomes 1, 6 5 (IBD5), 7-9 6 (IBD3; HLA), 8,10 12 (IBD2), 11 14 (IBD4), 7,12 16 (IBD1), 11,13 and 19 (IBD6). 8 The most consistently replicated CD susceptibility locus is located on chromosome 16 (IBD1), and the susceptibility gene has been identified as the NOD2/CARD15 gene.…”

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confidence: 99%

The Contribution of OCTN1/2 Variants Within the IBD5 Locus to Disease Susceptibility and Severity in Crohn’s Disease

et al. 2005

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Background & Aims:Recent data suggest that polymorphisms in the organic cation transporter (OCTN) genes OCTN1 (SLC22A4) and OCTN2 (SLC22A5) represent disease-causing mutations within the IBD5 locus (chromosome 5q31). We investigated associations with disease susceptibility, phenotype, and evidence for epistasis with CARD15 in 679 patients with Crohn's disease (CD) or ulcerative colitis (UC). Methods: A total of 374 patients with CD, 305 patients with UC, and 294 healthy controls (HCs) were studied. Genotyping for single nucleotide polymorphisms IGR2096, IGR2198, and IGR2230, OCTN1 variant (SLC22A4 1672C¡T), and OCTN2 variant (SLC22A5 ؊207G¡C) was performed using the TaqMan system. Results: The IBD5 OCTN1 and OCTN2 polymorphisms were in strong linkage disequilibrium (D=, >0.959). IGR2198 variant allele frequency (49.1% vs 40.8%; P ‫؍‬ .0046) and homozygosity (21% vs 14.8%; P ‫؍‬ .044) were associated with CD versus HCs. Variant allelic frequency of OCTN1 (53.6% vs 43%; P ‫؍‬ .0008) and OCTN2 (56.1% vs 48.4%; P ‫؍‬ .0092) polymorphisms and homozygosity for the OCTN1/2-TC haplotype (28.4% vs 16%; P ‫؍‬ .0042) were associated with CD versus HCs. IGR2198 homozygosity and TC homozygosity were associated with stricturing/penetrating disease at follow-up (P ‫؍‬ .011 and P ‫؍‬ .011, respectively) and disease progression (P ‫؍‬ .038 and P ‫؍‬ .049, respectively) on univariate analysis and with need for surgery on multivariate analysis (P ‫؍‬ .016 and P ‫؍‬ .004, respectively). In the absence of the IBD5 risk haplotype, no association of OCTN1/2 variants with CD was detected. No associations were seen with UC. Conclusions: The IBD5 locus influences susceptibility, progression, and need for surgery in CD. However, the contribution of OCTN1/2 variants is not independent of the IBD5 haplotype; a causative role for these genes remains plausible but is not yet proven. Further genetic, functional, and expression data are now required.

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“…На данный момент ВЗК считаются многофакторными заболеваниями с генетической предрасположенностью [9].…”

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Stem cells therapy in inflammatory bowel disease

Рахметова

Orazbayeva

2017

J CLIN MED KAZ

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The article analyzes the experience of applying various stem cell pools in the treatment of inflammatory diseases of the colon. Basic and clinical studies on properties of mesenchymal stem cells and clinical effects of various technologies for their use conducted held in recent years allows to consider the mesenchymal stem cells transplantation as a new and promising direction in the treatment of ulcerative colitis.Key words: Inflammatory bowel disease, mesenchymal stem cell, transplantation, regenerative medicine. ТҰЖЫРЫМДАМАМақалада тоқ ішектің ісіп қызару ауруларын емдеуде бағаналық жасушалардың әртүрлі популяциясын қолдану тәжірибесіне талдау жасалды. Мезенхималдық бағаналық жасушалардың қасиетін және оларды пайдаланудың әртүрлі технологияларының клиникалық әсерін зерделеу бойынша соңғы жылдары өткізілген іргелі және клиникалық зерттеулер мезенхималдық бағаналық жасушаларды трансплантаттауды ойық жаралы колитті емдеудегі жаңа және перспективалық бағыт ретінде қарауға мүмкіндік береді.Негізгі сөздер: ішектің ісіп қызаруы, мезенхималдық бағаналық жасушалар, трансплантаттау, регенеративті медицина. ПРИМЕНЕНИЕ СТВОЛОВЫХ КЛЕТОК В ЛЕЧЕНИИ ВОСПАЛИТЕЛЬНЫХ ЗАБОЛЕВАНИЙ КИШЕЧНИКА Рахметова В. С. Оразбаева А. Б.Отдел гастроэнтерологии и гепатологии, АО «Национальный научный медицинский центр», Астана, Казахстан.РЕЗЮМЕ В статье проанализирован опыт применения различных популяций стволовых клеток в лечении воспалительных заболеваний толстого кишечника. Фундаментальные и клинические исследования по изучению свойств мезенхимальных стволовых клеток и клинических эффектов различных технологий их применения, проведенные за последние годы, позволяют рассматривать трансплантацию мезенхимальных стволовых клеток как новое и перспективное направление в лечении язвенного колита.Ключевые слова: воспалительные заболевания кишечника, мезенхимальные стволовые клетки, трансплантация, регенеративная медицина.

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Genetics of inflammatory bowel disease: scientific and clinical implications

Cited by 60 publications

References 46 publications

NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?

NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?

The Contribution of OCTN1/2 Variants Within the IBD5 Locus to Disease Susceptibility and Severity in Crohn’s Disease

Stem cells therapy in inflammatory bowel disease

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