FADS2 and ELOVL6 mutation frequencies in Japanese Crohn's disease patients.

FADS2 and ELOVL6 mutation frequencies in Japanese Crohn's disease patients. Drug Discov Ther. 2019;13(6):354-359 Authors: Motoi Y, Ito Z, Suzuki S, Takami S, Matsuo K, Sato M, Ota Y, Tsuruta M, Kojima M, Noguchi M, Uchiyama K, Kubota T Abstract Crohn's disease (CD) development is thought to involve genetic factors related to immune response as well as environmental factors, such as intestinal bacteria and diet, though no clear cause has yet been identified. In our previous study, we found that the concentrations of linoleic acid, stearic acid, and metabolites in erythrocytes differed between CD patients and healthy subjects. These factors related to lipid metabolism are controlled by Δ6 desaturase (fatty acid desaturase 2, FADS2) and elongase 6 (ELOVL6), respectively. In the present study, we analyzed the gene sequences of FADS2 and ELOVL6 in 52 Japanese CD patients, and then compared mutation frequencies with findings in healthy individuals. Nineteen FADS2 mutations and 33 ELOVL6 mutations were found. Furthermore, a new variant in the promoter region was shown in both genes, though no mutation in the coding region was found in either. For the FADS2 intron, the allele frequency of rs227784 (0.3365; 95% CI = 0.0337-0.01460) was higher than that in healthy subjects (0.0190). Furthermore, allele rs227784 had a greater association with CD (odds ratio = 4.4; 95% CI = 2.1-9.3). As compared with healthy Japanese healthy individuals, no mut...
Source: Drug Discoveries and Therapeutics - Category: Drugs & Pharmacology Tags: Drug Discov Ther Source Type: research