FADS2 gene variant rs174593 is associated with multiple sclerosis
Аутори
Stojković, LjiljanaStefanović, Milan
Dinčić, Evica
Mačak, Nataša
Seke, Mariana
Živković, Maja
Конференцијски прилог (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Introduction: The hallmark pathogenic mechanisms of multiple sclerosis (MS) are proposed to be associated with long chain polyunsaturated fatty acids(LC-PUFA)-mediated neuroinflammation, through LC-PUFA-derived pro- and anti-inflammatory eicosanoids. Variants in genes coding for fatty acid desaturases (FADS), the key enzymes in LC-PUFA biosynthesis from essential fatty acids, are associated with changesin circulating LC-PUFA levels. The aim of thisstudy wasto investigate the FADS2 intronic variants, rs174576 (C/A), rs174593 (T/C) and rs174616 (G/A), in association with MS. Methods: The study involved 124 patients with relapsing-remitting form of MS and 83 healthy control subjects. The FADS2 gene variants were detected using TaqMan® SNP genotyping assays. Analysis of allele and genotype distributions in patients and controls was done by using the chi-square test. Results: According to the model of dominant effect of allele, genotypes containing the alternative, C, allele of FADS2 rs1745...93 variant were significantly less frequent in MS patients than in controls (MS: TT=57,26%, TC+CC=42,74%; controls: TT=42,17%, TC+CC=57,83%; p=0,03). In addition, the frequency of rs174593 C allele was significantly lower in patients, compared to controls (MS: T=0,76, C=0,24; controls: T=0,67, C=0,33; p=0,04). The frequency distributions of rs174576 and rs174616 alleles and genotypes were not significantly different between the study groups (p>0,05). Conclusion: The obtained resultssupply a rationale for further investigation of the association of FADS2 rs174593 with circulating LC-PUFA levels, in the context of MS. The genotype-LC-PUFA phenotype association could provide guidelinesfor personalized LC-PUFA supplementation, to potentially ameliorate the disease course and improve the effectiveness of therapy
Кључне речи:
gene / variant / microRNA / FADS2 / multiple sclerosisИзвор:
CoMBoS2 – the Second Congress of Molecular Biologists of Serbia : Book of abstracts, 2023, 88-88Финансирање / пројекти:
- Министарство науке, технолошког развоја и иновација Републике Србије, институционално финансирање - 200017 (Универзитет у Београду, Институт за нуклеарне науке Винча, Београд-Винча) (RS-MESTD-inst-2020-200017)
- FerroReg - Identification and functional characterization of extracellular and intracellular genetic regulators of ferroptosis related processes in multiple sclerosis (RS-ScienceFundRS-Ideje-7753406)
Напомена:
- The Second Congress of Molecular Biologists of Serbia; October 6-8, Belgrade, 2023.
Колекције
Институција/група
VinčaTY - CONF AU - Stojković, Ljiljana AU - Stefanović, Milan AU - Dinčić, Evica AU - Mačak, Nataša AU - Seke, Mariana AU - Živković, Maja PY - 2023 UR - https://vinar.vin.bg.ac.rs/handle/123456789/12712 AB - Introduction: The hallmark pathogenic mechanisms of multiple sclerosis (MS) are proposed to be associated with long chain polyunsaturated fatty acids(LC-PUFA)-mediated neuroinflammation, through LC-PUFA-derived pro- and anti-inflammatory eicosanoids. Variants in genes coding for fatty acid desaturases (FADS), the key enzymes in LC-PUFA biosynthesis from essential fatty acids, are associated with changesin circulating LC-PUFA levels. The aim of thisstudy wasto investigate the FADS2 intronic variants, rs174576 (C/A), rs174593 (T/C) and rs174616 (G/A), in association with MS. Methods: The study involved 124 patients with relapsing-remitting form of MS and 83 healthy control subjects. The FADS2 gene variants were detected using TaqMan® SNP genotyping assays. Analysis of allele and genotype distributions in patients and controls was done by using the chi-square test. Results: According to the model of dominant effect of allele, genotypes containing the alternative, C, allele of FADS2 rs174593 variant were significantly less frequent in MS patients than in controls (MS: TT=57,26%, TC+CC=42,74%; controls: TT=42,17%, TC+CC=57,83%; p=0,03). In addition, the frequency of rs174593 C allele was significantly lower in patients, compared to controls (MS: T=0,76, C=0,24; controls: T=0,67, C=0,33; p=0,04). The frequency distributions of rs174576 and rs174616 alleles and genotypes were not significantly different between the study groups (p>0,05). Conclusion: The obtained resultssupply a rationale for further investigation of the association of FADS2 rs174593 with circulating LC-PUFA levels, in the context of MS. The genotype-LC-PUFA phenotype association could provide guidelinesfor personalized LC-PUFA supplementation, to potentially ameliorate the disease course and improve the effectiveness of therapy C3 - CoMBoS2 – the Second Congress of Molecular Biologists of Serbia : Book of abstracts T1 - FADS2 gene variant rs174593 is associated with multiple sclerosis SP - 88 EP - 88 UR - https://hdl.handle.net/21.15107/rcub_vinar_12712 ER -
@conference{ author = "Stojković, Ljiljana and Stefanović, Milan and Dinčić, Evica and Mačak, Nataša and Seke, Mariana and Živković, Maja", year = "2023", abstract = "Introduction: The hallmark pathogenic mechanisms of multiple sclerosis (MS) are proposed to be associated with long chain polyunsaturated fatty acids(LC-PUFA)-mediated neuroinflammation, through LC-PUFA-derived pro- and anti-inflammatory eicosanoids. Variants in genes coding for fatty acid desaturases (FADS), the key enzymes in LC-PUFA biosynthesis from essential fatty acids, are associated with changesin circulating LC-PUFA levels. The aim of thisstudy wasto investigate the FADS2 intronic variants, rs174576 (C/A), rs174593 (T/C) and rs174616 (G/A), in association with MS. Methods: The study involved 124 patients with relapsing-remitting form of MS and 83 healthy control subjects. The FADS2 gene variants were detected using TaqMan® SNP genotyping assays. Analysis of allele and genotype distributions in patients and controls was done by using the chi-square test. Results: According to the model of dominant effect of allele, genotypes containing the alternative, C, allele of FADS2 rs174593 variant were significantly less frequent in MS patients than in controls (MS: TT=57,26%, TC+CC=42,74%; controls: TT=42,17%, TC+CC=57,83%; p=0,03). In addition, the frequency of rs174593 C allele was significantly lower in patients, compared to controls (MS: T=0,76, C=0,24; controls: T=0,67, C=0,33; p=0,04). The frequency distributions of rs174576 and rs174616 alleles and genotypes were not significantly different between the study groups (p>0,05). Conclusion: The obtained resultssupply a rationale for further investigation of the association of FADS2 rs174593 with circulating LC-PUFA levels, in the context of MS. The genotype-LC-PUFA phenotype association could provide guidelinesfor personalized LC-PUFA supplementation, to potentially ameliorate the disease course and improve the effectiveness of therapy", journal = "CoMBoS2 – the Second Congress of Molecular Biologists of Serbia : Book of abstracts", title = "FADS2 gene variant rs174593 is associated with multiple sclerosis", pages = "88-88", url = "https://hdl.handle.net/21.15107/rcub_vinar_12712" }
Stojković, L., Stefanović, M., Dinčić, E., Mačak, N., Seke, M.,& Živković, M.. (2023). FADS2 gene variant rs174593 is associated with multiple sclerosis. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia : Book of abstracts, 88-88. https://hdl.handle.net/21.15107/rcub_vinar_12712
Stojković L, Stefanović M, Dinčić E, Mačak N, Seke M, Živković M. FADS2 gene variant rs174593 is associated with multiple sclerosis. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia : Book of abstracts. 2023;:88-88. https://hdl.handle.net/21.15107/rcub_vinar_12712 .
Stojković, Ljiljana, Stefanović, Milan, Dinčić, Evica, Mačak, Nataša, Seke, Mariana, Živković, Maja, "FADS2 gene variant rs174593 is associated with multiple sclerosis" in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia : Book of abstracts (2023):88-88, https://hdl.handle.net/21.15107/rcub_vinar_12712 .