Background And Aim: Ulcerative colitis (UC) and Crohn's disease (CD) are two major phenotypes of inflammatory bowel disease (IBD) that present with inflammation of the colon or the entire gastrointestinal tract, respectively. Genome-wide association studies have confirmed the role of nucleotide-binding oligomerization domain protein-2 (NOD2) variants and identified several other genes associated with IBD. We investigated whether variants in NOD2 and interleukin-23 receptor (IL23R) are associated with IBD in a well-characterized case-control cohort from southern India.
Methods: We recruited 652 patients (411 UC and 241 CD) using established diagnostic criteria and 442 age-, sex-, and ethnically-matched, normal individuals. By direct sequencing, we screened the complete NOD2 gene and genotyped the R381Q variant in IL23R, and performed an association analysis and genotype-phenotype correlation analysis.
Results: The clinical presentation of UC and CD patients did not differ significantly from the Europeans. We observed a monomorphic status for three common disease-susceptible variants, R702W, G908R, and 1007fs in NOD2; three other single nucleotide polymorphisms, P268S, R459R, and R587R, had a comparable minor allele frequency in patients and controls. Compared to Europeans, we found a low frequency (∼1%) of the protective allele at R381Q in IL23R and no statistically-significant association with IBD (odds ratio = 0.87; 95% confidence interval = 0.26-2.86; P>0.05).
Conclusions: Our study suggests that variants in the NOD2 gene and the protective variant R381Q in IL23R are not associated with IBD in Indians. Additional variants in these or other candidate genes might play a major role in the pathophysiology of IBD in Indians.
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http://dx.doi.org/10.1111/j.1440-1746.2010.06533.x | DOI Listing |
medRxiv
December 2024
Department of Psychiatry and Psychotherapy, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Recent advancements in Parkinson's disease (PD) drug development have been significantly driven by genetic research. Importantly, drugs supported by genetic evidence are more likely to be approved. While genome-wide association studies (GWAS) are a powerful tool to nominate genomic regions associated with certain traits or diseases, pinpointing the causal biologically relevant gene is often challenging.
View Article and Find Full Text PDFFront Immunol
November 2024
Division of Rheumatology, Allergy and Immunology, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, United States.
Front Immunol
November 2024
Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
Objective: Next-generation sequencing (NGS) panels are increasingly used for the diagnosis of monogenic systemic autoinflammatory diseases (SAIDs). However, their role in patients with adult-onset Still's disease (AOSD) remains unknown. This study aims to assess the usefulness of NGS panels in AOSD patients to improve diagnosis and management of the disease.
View Article and Find Full Text PDFClin Immunol
January 2025
Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America. Electronic address:
Inflamm Bowel Dis
November 2024
Division of Gastroenterology, Rabin Medical Center, Petah Tikva, Israel.
Background: Patients with ulcerative colitis (UC) undergoing proctocolectomy and ileal pouch-anal anastomosis (IPAA) may eventually require biologic therapy. Factors associated with biologic therapy after IPAA have not been previously studied.
Methods: All patients with UC after total proctocolectomy and IPAA who were followed at Rabin Medical Center comprehensive pouch clinic and who consented to prospective observational follow-up were included.
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