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Crohn's Disease Forum » Books, Multimedia, Research & News » Autophagy genes variants and paediatric Crohn's disease phenotype: A single-centre experience


03-20-2014, 12:14 PM   #1
kiny
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Autophagy genes variants and paediatric Crohn's disease phenotype: A single-centre experience

http://www.sciencedirect.com/science...90865814002503

Autophagy genes variants and paediatric Crohn's disease phenotype: A single-centre experience

March 2014

Background and aims

Little evidence demonstrating the correlation between several single nucleotide polymorphisms and a specific phenotype of Crohn's disease has been reported in children. We investigated the relationship between autophagy genes variants and clinical features in our children with Crohn's disease.

Methods

Genotyping for ATG16L1, NOD2/CARD15, and IRGM1 was performed in 80 consecutive patients with Crohn's disease (median age: 11 years; range: 0.7–17.9 years). Crohn's disease location and behaviour were classified using the Paris classification. Additional data were collected from clinical records on patients’ demographics, age at symptom onset and diagnosis, extraintestinal manifestations, therapy, clinical relapses, and need of surgical intervention.

Results

Patients homozygous for the risk allele ATG16L1 (T300A) showed a trend towards switching to a stricturing phenotype during the course of disease compared to children either homozygous for the wild-type allele or heterozygous for the ATG16L1 single nucleotide polymorphism (p = 0.01). Homozygosity for the ATG16L1 risk allele was associated with a major recurrence of clinical relapses and earlier introduction of immunosuppressants (p = 0.006 and p = 0.04, respectively). Heterozygosity for the NOD2 rs2066847 allele was associated with major ileal involvement (p = 0.01).

Conclusion

In patients carrying the T300A variant, Crohn's disease follows a more aggressive clinical course.
03-20-2014, 12:41 PM   #2
chrohnotrigger
 
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Did the researchers propose a method for the T300A variant's role in the progression of the disease itself? Up/down regulated signaling pathways?
03-20-2014, 12:52 PM   #3
kiny
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Many studies posted in this section regarding the effects ATG16L1 variants have on autophagy and it's relationship with CD. All of the mentioned genes are related to autophagy, macrophages and dendritic cells with these variants would result in severely compromised innate immune systems. So you would assume people with those variants to have far more issues controlling intracellular pathogens, which is likely why the people with the variants have worse cases of CD on average and require more treatment.

All these autophagy gene variants are specific to CD, not UC.
03-20-2014, 01:13 PM   #4
kiny
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Anyone who wants more info on autophagy and CD, I think it is easier to read about xenophagy, autophagy is involved in many functions, it is specifically the xenophagy response that is related to CD. You can ready all day about autophagy without reading anything about xenophagy and CD, it is too broad a subject.
03-21-2014, 04:01 PM   #5
DustyKat
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Hmmmm, interesting and just as an observation from the parent’s forum…

I see the results here have the potential to correlate quite well with what is going on with our kids.

Thanks for posting Kiny.
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