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• W2721556819 abstract "Sjögren’s syndrome (SS) is a common, autoimmune exocrinopathy distinguished by keratoconjunctivitis sicca and xerostomia. Patients frequently develop serious complications including lymphoma, pulmonary dysfunction, neuropathy, vasculitis, and debilitating fatigue. Dysregulation of type I interferon (IFN) pathway is a prominent feature of SS and is correlated with increased autoantibody titers and disease severity. To identify genetic determinants of IFN pathway dysregulation in SS, we performed cis-expression quantitative trait locus (eQTL) analyses focusing on differentially expressed type I IFN-inducible transcripts identified through a transcriptome profiling study. Multiple cis-eQTLs were associated with transcript levels of 2'-5'-oligoadenylate synthetase 1 (OAS1) peaking at rs10774671 (PeQTL = 6.05 × 10−14). Association of rs10774671 with SS susceptibility was identified and confirmed through meta-analysis of two independent cohorts (Pmeta = 2.59 × 10−9; odds ratio = 0.75; 95% confidence interval = 0.66–0.86). The risk allele of rs10774671 shifts splicing of OAS1 from production of the p46 isoform to multiple alternative transcripts, including p42, p48, and p44. We found that the isoforms were differentially expressed within each genotype in controls and patients with and without autoantibodies. Furthermore, our results showed that the three alternatively spliced isoforms lacked translational response to type I IFN stimulation. The p48 and p44 isoforms also had impaired protein expression governed by the 3' end of the transcripts. The SS risk allele of rs10774671 has been shown by others to be associated with reduced OAS1 enzymatic activity and ability to clear viral infections, as well as reduced responsiveness to IFN treatment. Our results establish OAS1 as a risk locus for SS and support a potential role for defective viral clearance due to altered IFN response as a genetic pathophysiological basis of this complex autoimmune disease." @default.
• W2721556819 created "2017-06-30" @default.
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• W2721556819 date "2017-06-22" @default.
• W2721556819 modified "2023-10-14" @default.
• W2721556819 title "Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons" @default.
• W2721556819 cites W1595687567 @default.
• W2721556819 cites W1958363133 @default.
• W2721556819 cites W1967546588 @default.
• W2721556819 cites W1970895045 @default.
• W2721556819 cites W1971833707 @default.
• W2721556819 cites W1973237459 @default.
• W2721556819 cites W1973431560 @default.
• W2721556819 cites W1973479681 @default.
• W2721556819 cites W1974003730 @default.
• W2721556819 cites W1981041672 @default.
• W2721556819 cites W1984861742 @default.
• W2721556819 cites W1986593633 @default.
• W2721556819 cites W1988535310 @default.
• W2721556819 cites W1992436001 @default.
• W2721556819 cites W1997691172 @default.
• W2721556819 cites W1998244390 @default.
• W2721556819 cites W1999444858 @default.
• W2721556819 cites W2000177767 @default.
• W2721556819 cites W2000969329 @default.
• W2721556819 cites W2006535221 @default.
• W2721556819 cites W2010160850 @default.
• W2721556819 cites W2011330612 @default.
• W2721556819 cites W2012697072 @default.
• W2721556819 cites W2016447788 @default.
• W2721556819 cites W2017454918 @default.
• W2721556819 cites W2018838463 @default.
• W2721556819 cites W2022126078 @default.
• W2721556819 cites W2024308747 @default.
• W2721556819 cites W2025033926 @default.

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