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PMID: 25889045
Merriman TR
An update on the genetic architecture of hyperuricemia and gout.
Arthritis Res Ther. 2015 Apr 10;17:98. doi: 10.1186/s13075-015-0609-2.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
132
ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 25889045:132:140
status:
NEW
view ABCG2 p.Gln141Lys details
The genetic basis is considerably simpler than that at SLC2A9, and the association signal is reported to be driven solely by the rs2231142 (
Q141K
) variant [36].
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141
ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 25889045:141:6
status:
NEW
view ABCG2 p.Gln141Lys details
ABCG2
Q141K
may also interact with extra-renal metabolic pathways to regulate serum urate (for example, via an influence on hepatic conversion of fructose to glucose) [39].
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166
ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 25889045:166:33
status:
NEW
view ABCG2 p.Gln141Lys details
At ABCG2, the rs2231142 variant (
Q141K
), which is highly likely to be a causal variant at this locus [36], was associated with ABCG2 expression in the liver [4].
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