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- W4241443629 abstract "Sialic acid acetylesterase (SIAE) is an enzyme that negatively regulates B lymphocyte antigen receptor signalling and is required for the maintenance of immunological tolerance in mice. Heterozygous loss-of-function germline rare variants and a homozygous defective polymorphic variant of SIAE were identified in 24/923 subjects of European origin with relatively common autoimmune disorders and in 2/648 controls of European origin. All heterozygous loss-of-function SIAE mutations tested were capable of functioning in a dominant negative manner. A homozygous secretion-defective polymorphic variant of SIAE was catalytically active, lacked the ability to function in a dominant negative manner, and was seen in eight autoimmune subjects but in no control subjects. The odds ratio for inheriting defective SIAE alleles was 8.6 in all autoimmune subjects, 8.3 in subjects with rheumatoid arthritis, and 7.9 in subjects with type I diabetes. Functionally defective SIAE rare and polymorphic variants represent a strong genetic link to susceptibility in relatively common human autoimmune disorders. PMID: 20555325 Funding information This work was supported by: NIAMS NIH HHS, United States Grant ID: AR 058481 NINDS NIH HHS, United States Grant ID: NS 32765 NIAID NIH HHS, United States Grant ID: R01 AI068759 NIAMS NIH HHS, United States Grant ID: RC1 AR058481-01 NIAID NIH HHS, United States Grant ID: R01 AI064930-04 NIAID NIH HHS, United States Grant ID: R01 AI076505 NINDS NIH HHS, United States Grant ID: R01 NS032765 NIAID NIH HHS, United States Grant ID: AI 068759 NIAID NIH HHS, United States Grant ID: AI 076505 NIAID NIH HHS, United States Grant ID: R01 AI068759-05 NIAID NIH HHS, United States Grant ID: R01 AI076505-02 NIAMS NIH HHS, United States Grant ID: AR 044422 NIDDK NIH HHS, United States Grant ID: P30 DK043351 NIAID NIH HHS, United States Grant ID: R01 AI064930 NIAMS NIH HHS, United States Grant ID: AR 022263 NIAMS NIH HHS, United States Grant ID: R01 AR044422 NIAMS NIH HHS, United States Grant ID: RC1 AR058481 NIAMS NIH HHS, United States Grant ID: R01 AR044422-13 NIAID NIH HHS, United States Grant ID: AI 064930 NIAMS NIH HHS, United States Grant ID: N01AR22263 More Less keyboard_arrow_down" @default.
- W4241443629 created "2022-05-12" @default.
- W4241443629 creator A5006998673 @default.
- W4241443629 date "2010-07-16" @default.
- W4241443629 modified "2023-09-28" @default.
- W4241443629 title "Faculty Opinions recommendation of Functionally defective germline variants of sialic acid acetylesterase in autoimmunity." @default.
- W4241443629 doi "https://doi.org/10.3410/f.3611960.3942055" @default.
- W4241443629 hasPublicationYear "2010" @default.
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