Genetic analysis of the ELOVL6 gene polymorphism associated with type 2 diabetes mellitus

Liu, Y.; Wang, F.; Yu, Xiaohong; Zhang, Miao; Wang, Z.C.; Chen, Y.; Wang, Y.G.

doi:10.1590/1414-431x20133103

Cited by 13 publications

(12 citation statements)

References 14 publications

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“…Elongase of very long chain fatty acids 6 especially catalyzes elongation of n‐SFA and MUFA with 12, 14, and 16 carbons thereby regulating de novo lipogenesis . ELOVL6 gene polymorphisms were associated with risk of insulin resistance and type 2 diabetes mellitus in European and Han Chinese populations . Moreover, both ELOVL6 and its upstream epidermal growth factor gene are significantly associated with gout in a Han Chinese population .…”

Section: Discussionmentioning

confidence: 99%

Identification of genes mediating branched chain fatty acid elongation

Wang

Park

et al. 2019

FEBS Letters

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Saturated branched chain fatty acids (BCFA) terminating with either a prop‐2‐yl (iso) or sec‐butan‐2‐yl (anteiso) group are common bioactive food components consumed from beef, fish, and dairy products. Little is known about the endogenous metabolism of BCFA and the enzymes mediating their interconversions. By using transient transfection studies, we report for the first time the substrate specificity of the elongase of very long chain fatty acids (ELOVL)1‐7 toward anteiso‐15:0 and iso‐18:0, and assessed competition between BCFA and normal saturated fatty acids (n‐SFA). ELOVL6 mediates elongation of anteiso‐15:0→anteiso‐17:0, while ELOVL3 is active toward iso‐18:0→iso‐20:0. Competition studies reveal n‐16:0 competes with anteiso‐15:0 for ELOVL6, while n‐18:0 competes with iso‐18:0 for ELOVL3. These competitions for elongation may have implications in specialized tissues where both BCFA and n‐SFA are present at comparable levels.

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Section: Discussionmentioning

confidence: 99%

Identification of genes mediating branched chain fatty acid elongation

Wang

Park

et al. 2019

FEBS Letters

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“…Elovl6 is a major transcriptional target of sterol regulatory element-binding protein (SREBP) 1, a critical modulator for fatty acid-lipid biosynthesis and glucose metabolism [ 8 , 9 ]. Clinically, genetic variations in the Elovl6 gene have a significant association with insulin sensitivity in population-based studies [ 10 , 11 ]. Elovl6 is expressed ubiquitously and is unique in its role for de novo fatty acid biosynthesis [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

Crucial Role of Elovl6 in Chondrocyte Growth and Differentiation during Growth Plate Development in Mice

et al. 2016

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ELOVL family member 6, elongation of very long chain fatty acids (Elovl6) is a microsomal enzyme, which regulates the elongation of C12-16 saturated and monounsaturated fatty acids. Elovl6 has been shown to be associated with various pathophysiologies including insulin resistance, atherosclerosis, and non-alcoholic steatohepatitis. To investigate a potential role of Elovl6 during bone development, we here examined a skeletal phenotype of Elovl6 knockout (Elovl6-/-) mice. The Elovl6-/- skeleton was smaller than that of controls, but exhibited no obvious patterning defects. Histological analysis revealed a reduced length of proliferating and an elongated length of hypertrophic chondrocyte layer, and decreased trabecular bone in Elovl6-/- mice compared with controls. These results were presumably due to a modest decrease in chondrocyte proliferation and accelerated differentiation of cells of the chondrocyte lineage. Consistent with the increased length of the hypertrophic chondrocyte layer in Elovl6-/- mice, Collagen10α1 was identified as one of the most affected genes by ablation of Elovl6 in chondrocytes. Furthermore, this elevated expression of Collagen10α1 of Elovl6-null chondrocytes was likely associated with increased levels of Foxa2/a3 and Mef2c mRNA expression. Relative increases in protein levels of nuclear Foxa2 and cytoplasmic histone deacethylase 4/5/7 were also observed in Elovl6 knockdown cells of the chondrocyte lineage. Collectively, our data suggest that Elovl6 plays a critical role for proper development of embryonic growth plate.

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“…Also, Morcillo et al reported that the risk of insulin resistance was decreased when the rs6824447 mutation was present, while the risk increased in individuals with the rs17041272 mutation (17). On the other hand, Liu et al reported that there were no significant differences regarding those mutations between healthy and type 2 diabetic patients (18). We consider that the association with CD onset is low, because no divergence was found in the frequency of any of the mutations examined in this study.…”

Section: Resultsmentioning

confidence: 47%

<i>FADS2</i> and <i>ELOVL6</i> mutation frequencies in Japanese Crohn's disease patients

Motoi

Ito

Suzuki

et al. 2019

DD&T

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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 mutations were found with a largely deviated allele frequency in the present CD group. However, the number of patients examined was small, thus the reliability of our results is limited. The present findings regarding genetic effects on CD onset and lipid metabolism may be weak.

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Genetic analysis of the ELOVL6 gene polymorphism associated with type 2 diabetes mellitus

Cited by 13 publications

References 14 publications

Identification of genes mediating branched chain fatty acid elongation

Identification of genes mediating branched chain fatty acid elongation

Crucial Role of Elovl6 in Chondrocyte Growth and Differentiation during Growth Plate Development in Mice

<i>FADS2</i> and <i>ELOVL6</i> mutation frequencies in Japanese Crohn's disease patients

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