Purpose: A two-allele haplotype of TC (OCTN1 rs1050152 and OCTN2 -207G→C) is associated with Crohn's disease (CD). The association has been replicated in different populations, but also failed in some studies. The present study is to replicate the association of OCTN1 rs1050152 and examine another variant rs272879 with familial and sporadic inflammatory bowel disease (IBD) in a cohort from central Pennsylvania, USA.
Methods: The study samples (n=465) included 212 inflammatory bowel disease patients (CD=115, UC=97), including 103 familial (CD=55, UC=46) and 111 sporadic (CD=60, UC=51) IBD, 139 non-IBD family members from a familial IBD registry, and 114 unrelated healthy controls. A total of 12 OCTN1 variants within exonic sequences were examined. Two nonsynonymous SNPs, rs1050152 (L503F) and rs272879 (L395V) were genotyped by a PCR-based RFLP/cRFLP method and statistically analyzed. These samples with an additional 141 unrelated healthy samples were also genotyped for rs1050152 using the SNPlex™ Genotyping System.
Results: The OCTN1 rs1050152 is associated with CD (OR=1.745, 95% CI=1.019-2.990, χ²=4.129, p=0.042) and with IBD (OR=1.68, 95% CI=1.052-2.676, χ²=4.732, p=0.030); while the variant rs272879 is not associated with IBD, CD or ulcerative colitis (UC). The distribution of the rs1050152 variant showed a high level of the T allele in male UC (OR=2.585, 95% CI=1.139-5.869, p=0.023) and IBD (OR=2.039, 95% CI=1.024-4.059, p=0.042) patients, and in female CD patients (OR=2.329, 95% CI=1.038-5.226, ρ value=0.039).
Conclusion: The present results replicated the association of the OCTN1 rs1050152 (L503F) variant with CD and IBD overall. A weak gender-specific effect of rs1050152 (L503F) on male UC and female CD was observed.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.crohns.2009.09.003 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Lack of impact of OCTN1 gene polymorphisms on clinical outcomes of gabapentinoids in Pakistani patients with neuropathic pain.
PLoS One
May 2022
Department of Biochemistry, Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Pakistan.
Background And Objective: Gabapentinoids are the first-line drugs for neuropathic pain. These drugs are the substrate of organic cation transporter (OCTN1) for renal excretion and absorption across the intestinal epithelium. Gabapentinoids exhibit wide interindividual variability in daily dosage and therapeutic efficacy which makes titration regimens prolonged for optimal efficacy.
View Article and Find Full Text PDFPopulation pharmacokinetics of gabapentin in patients with neuropathic pain: Lack of effect of diabetes or glycaemic control.
Br J Clin Pharmacol
April 2021
School of Pharmaceutical Sciences, UNESP - São Paulo State University, Araraquara, SP, Brazil.
Article Synopsis
- Gabapentin (GBP) is commonly used to treat neuropathic pain, and this study aimed to understand how diabetes and blood sugar levels affect its pharmacokinetics in patients.
- The clinical trial involved 29 participants, analyzing GBP's absorption, distribution, and clearance through blood samples collected over 24 hours after a single dose.
- Results indicated that GBP’s drug disposition followed a specific model, and its clearance was linked to kidney function, showing no significant effects from hyperglycemia or diabetes on GBP distribution and excretion.
Tooth loss and adiposity: possible role of carnitine transporter (OCTN1/2) polymorphisms in women but not in men.
Clin Oral Investig
February 2021
Department of Periodontology, Dental Clinics, Dental School, University Medicine Greifswald, Fleischmannstrasse 42, 17475, Greifswald, Germany.
Objective: SLC22A4/5 single nucleotide polymorphisms (SNPs) have been reported to affect inflammatory diseases. We report the relationship of these polymorphisms with adiposity and tooth loss as elucidated in a 10-year follow-up study.
Methods: Participants of the Study of Health in Pomerania (SHIP, N = 4105) were genotyped for the polymorphisms c.
Associations between single-nucleotide polymorphisms and inflammatory bowel disease-associated colorectal cancers in inflammatory bowel disease patients: a meta-analysis.
Clin Transl Oncol
August 2017
Department of Digestive Medicine, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, No. 24 Jinghua Road, Jianxi District, Luoyang, 471003, Henan, China.
Purpose: To assess the correlation between single-nucleotide polymorphisms (SNPs) and inflammatory bowel disease (IBD)-associated colorectal cancer (CRC) in IBD patients.
Methods: A systematic search of PubMed, EmBase, and Cochrane databases was performed. Five genetic models (allelic, dominant, recessive, heterozygous and homozygous models) were used to analyze the associations, and trial sequential analysis was used to analyze the robustness of the results.
Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy.
Pharmacol Res
February 2013
Department of Pharmacology, University of Bologna, Via Irnerio 48, 40126 Bologna, Italy.
The two basic mainstays of gastrointestinal stromal tumours (GIST) treatment are surgery and imatinib, a selective tyrosine kinase inhibitor that allows achieving a stable or responding disease in about 80% of patients with unresectable/metastatic GIST. Response to imatinib mainly depends from KIT and PDGFRα mutational status. Nevertheless, some patients with a potentially responsive genotype do not respond, and others develop a pattern of resistance to imatinib which is not associated with secondary mutations.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!