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Volume 10
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10.3390/genes10020077
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Article

Functional SNPs in the Human Autoimmunity-Associated Locus 17q12-21

by
Alina S. Ustiugova
1,2,
Kirill V. Korneev
1,2,
Dmitry V. Kuprash
1,2 and
Marina A. Afanasyeva
1,*
1
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 119991 Moscow, Russia
2
Biological Faculty, Lomonosov Moscow State University, 119234 Moscow, Russia
*
Author to whom correspondence should be addressed.
Genes 2019, 10(2), 77; https://doi.org/10.3390/genes10020077
Submission received: 19 November 2018 / Revised: 15 January 2019 / Accepted: 17 January 2019 / Published: 23 January 2019
(This article belongs to the Section Molecular Genetics and Genomics)
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Abstract

Genome-wide association studies (GWASes) revealed several single-nucleotide polymorphisms (SNPs) in the human 17q12-21 locus associated with autoimmune diseases. However, follow-up studies are still needed to identify causative SNPs directly mediating autoimmune risk in the locus. We have chosen six SNPs in high linkage disequilibrium with the GWAS hits that showed the strongest evidence of causality according to association pattern and epigenetic data and assessed their functionality in a local genomic context using luciferase reporter system. We found that rs12946510, rs4795397, rs12709365, and rs8067378 influenced the reporter expression level in leukocytic cell lines. The strongest effect visible in three distinct cell types was observed for rs12946510 that is predicted to alter MEF2A/C and FOXO1 binding sites.
Keywords: enhancer; regulatory variant; luciferase reporter assay; post-GWAS; multiple sclerosis; ulcerative colitis; Crohn’s disease; type 1 diabetes; rheumatoid arthritis; primary biliary cirrhosis enhancer; regulatory variant; luciferase reporter assay; post-GWAS; multiple sclerosis; ulcerative colitis; Crohn’s disease; type 1 diabetes; rheumatoid arthritis; primary biliary cirrhosis

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MDPI and ACS Style

Ustiugova, A.S.; Korneev, K.V.; Kuprash, D.V.; Afanasyeva, M.A. Functional SNPs in the Human Autoimmunity-Associated Locus 17q12-21. Genes 2019, 10, 77. https://doi.org/10.3390/genes10020077

AMA Style

Ustiugova AS, Korneev KV, Kuprash DV, Afanasyeva MA. Functional SNPs in the Human Autoimmunity-Associated Locus 17q12-21. Genes. 2019; 10(2):77. https://doi.org/10.3390/genes10020077

Chicago/Turabian Style

Ustiugova, Alina S., Kirill V. Korneev, Dmitry V. Kuprash, and Marina A. Afanasyeva. 2019. "Functional SNPs in the Human Autoimmunity-Associated Locus 17q12-21" Genes 10, no. 2: 77. https://doi.org/10.3390/genes10020077

APA Style

Ustiugova, A. S., Korneev, K. V., Kuprash, D. V., & Afanasyeva, M. A. (2019). Functional SNPs in the Human Autoimmunity-Associated Locus 17q12-21. Genes, 10(2), 77. https://doi.org/10.3390/genes10020077

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