Dinčić, Evica

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FADS2 gene variant rs174593 is associated with multiple sclerosis

Stojković, Ljiljana; Stefanović, Milan; Dinčić, Evica; Mačak, Nataša; Seke, Mariana; Živković, Maja

(2023)

TY  - 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 .