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Cited by 15 publications
(11 citation statements)
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References 26 publications
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“…In addition, LXR-α which is encoded by NR1H3 , was found to harbor a rare p.Arg415Gln mutation co-segregating with MS in two multi-incident families, and common alleles resulting in increased disease susceptibility [9]. Although this association was initially controversial [96, 111], it has now been independently replicated [6, 112].…”
Section: Resultsmentioning
confidence: 99%
“…In addition, LXR-α which is encoded by NR1H3 , was found to harbor a rare p.Arg415Gln mutation co-segregating with MS in two multi-incident families, and common alleles resulting in increased disease susceptibility [9]. Although this association was initially controversial [96, 111], it has now been independently replicated [6, 112].…”
Section: Resultsmentioning
confidence: 99%
“…Evidence indicated that the effect of genetic variants' on gene expression might occur in specific tissues or cell types. [9][10][11][12][13][14][15][16] In stage 1, we performed a functional annotation of the rs6647 variant to determine the regulatory potential using software HaploReg version 4.1 (HaploReg v4.1). 17 In stage 2, we investigated the potential association of the rs6647 variant and the expression of SERPINA1 and other genes in and around the SERPINA1 locus using multiple expression quantitative trait loci (eQTLs) datasets from human brain tissues and blood.…”
Section: Introductionmentioning
confidence: 99%
“…Various major histocompatibility complex (MHC) variants (Moutsianas et al, 2015) and 110 non-MHC variants are related to MS susceptibility (International Multiple Sclerosis Genetics et al, 2013). In recent years, researchers identified the variants in SLC9A9 and NR1H3 had associations with the risk of MS (Liu et al, 2016; Zhang et al, 2018). Moreover, experts have focused research on network-based analyses of genome and protein pathways using GWAS datasets, especially those related to immune pathways (Baranzini et al, 2009).…”
Section: Introductionmentioning
confidence: 99%