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conferenceseries
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Volume 3
Diagnostic Pathology: Open Access
ISSN: 2476-2024
Laboratory Medicine 2018
June 25-26, 2018
June 25-26, 2018 | Berlin, Germany
13
th
International Conference on
Laboratory Medicine & Pathology
Commentary on Mutations in Interleukin-10 Receptor in Inflammatory Bowel Disease in Iranian
IBD cohort
Razieh Khoshnevisan
and
Roya Sherkat
Isfahan University of Medical Science, Iran
Introduction:
Early-onset inflammatorybowel disease (IBD) is adiagnosisofCrohn’sdisease, ulcerative colitis and inflammatory
bowel disease unclassified which runs a chronic, relapsing course and can result in substantial long-term morbidity. IBD is a
multifactorial disorder with genetic susceptibility, immunological predisposition and environmental triggers.
Aim:
The aim of the study is to determine prevalence of IL10R mutation in IBD patients from Isfahan, Iran.
Materials & Methodology:
Total DNA content of each patient was extracted from whole blood with and PCR amplification
was done as previously described. We performed sequencing of all exons in IL10RA and IL10RB in cohort of IBD patients and
healty control.
Results &Discussions:
Overall detection rate of IL-10RAmutations was 69.3% (53/76) and IL10-RB 3.9(3/76) in total patients.
Identified IL-10RAmutations were P.(I224V), P.(A153V), P.(A153A), P.(S159G), P.(R263Q), P.(R284C), P.(R351Q), P.(Q376Q),
P.(T416I), P.(A493V), P.(A511A) and P.(S563S)and IL10RBmutation was P.(K47E). Of them, P.(A153V), P.(A153A), P.(R284C),
P.(T416I), P.(A493V), P.(A511A), P.(S563S) were not reported variant with IBD variants. The most common mutations were
P.(A153A) and P (R361G) found in 48 out of 76 patients (63.1%). Like all studies which demonstrate relation between IL10R
mutation and IBD our results also confirmed that early-onset IBD could be attributed to a synergistic effect of several variant
alleles of the genes encoding IL10 receptors. These variants, alone, could only give rise to a sub-clinical manifestation of the
IBD.
Razikhosh@yahoo.comDiagn Pathol Open 2018, Volume 3
DOI: 10.4172/2476-2024-C1-003