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Article

Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels.

Genetics - 1 Apr 2020

Misawa Kazuharu, Hasegawa Takanori, Mishima Eikan, Jutabha Promsuk, Ouchi Motoshi, Kojima Kaname, Kawai Yosuke, Matsuo Masafumi, Anzai Naohiko, Nagasaki Masao

Abstract excerpt

Gout is a common arthritis caused by monosodium urate crystals. The heritability of serum urate levels is estimated to be 30-70%; however, common genetic variants account for only 7.9% of the variance in serum urate levels. This discrepancy is an example of "missing heritability." The "missing heritability" suggests that variants associated with uric acid levels are yet to be found. By using genomic sequences of...

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Identifiers

PMID: 32005656
DOI: 10.1534/genetics.119.303006
PMCID: PMC7153932

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Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels.PMID 32005656Read ↗

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A population-specific low-frequency variant of SLC22A12 (p.W258*) explains nearby genome-wide association signals for serum uric acid concentrations among Koreans.Semantic proximity Read ↗

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