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Table 1 Summary of the 28 genome-wide significant urate loci detected by Köttgen and colleagues [4]

From: An update on the genetic architecture of hyperuricemia and gout

 

GRAIL gene

Effect size (male/female a ), mg/dL

FEUA, Yes/No b

Association signal

Probable causal gene c

Strongest candidate(s) d,e

Old loci

      

Rs1471633

PDZK1

0.059

No

Within PDZK1

PDZK1

-

Rs1260326

GCKR

0.074 (0.091/0.063)

Yes

Spans >20 genes

-

GCKR

Rs12498742

SLC2A9

0.373 (0.269/0.460)

Yes

Spans 4 genes

SLC2A9

-

Rs2231142

ABCG2

0.217 (0.280/0.181)

Yes

Spans 4 genes

ABCG2

-

Rs675209

RREB1

0.061

Yes

Upstream and within RREB1

-

RREB1

Rs1165151

SLC17A3

0.091

No

Spans 20 genes

-

SLC17A1-A4

Rs1171614

SLC16A9

0.079

No

Spans 2 genes

-

-

Rs2078267

SLC22A11

0.073

Yes

Within SLC22A11

SLC22A11

-

Rs478607

SLC22A12

0.047

Yes

Spans 6 genes

-

SLC22A12

Rs3741414

INHBC

0.072 (0.091/0.057)

No

Spans 7 genes

-

-

New loci

      

Rs11264341

PKLR

0.050

No

Spans 2 genes

-

-

Rs17050272

INHBB

0.035

No

Intergenic

INHBB

-

Rs2307384

ACVR2A

0.029

No

Spans 3 genes

-

-

Rs6770152

MUSTN1

0.044

No

Spans 3 genes

-

-

Rs17632159

TMEM171

0.039

No

Intergenic

-

-

Rs729761

VEGFA

0.047

No

Intergenic

-

-

Rs1178977

MLXIPL

0.047

No

Spans 5 genes

-

MLXIPL

Rs10480300

PRKAG2

0.035

No

Within PRKAG2

-

PRKAG2

Rs17786744

STC1

0.029

No

Intergenic

-

-

Rs2941484

HNF4G

0.044

No

Within HNF4G

 

HNF4G

Rs10821905

ASAH2

0.057

No

Within A1CF

 

A1CF

Rs642803

LTBP3

0.036

No

Spans 6 genes

-

-

Rs653178

PTPN11 f

0.035

No

Spans 3 genes

-

-

Rs1394125

NRG4

0.043 (0.061/0.032)

Yes

Spans 4 genes

-

-

Rs6598541

IGF1R

0.043

Yes

Within IGFR1

-

IGFR1

Rs7193778

NFAT5

0.046

Yes

Intergenic

-

-

Rs7188445

MAF

0.032

No

Intergenic

-

-

Rs7224610

HLF

0.042

Yes

Within HLF

-

HLF

Rs2079742

C17ORF82

0.043

No

Downstream and within BCAS3

-

-

Rs164009

PRPSAP1

0.028

No

Within QRICH2

-

-

  1. aMale and female effect sizes are given for loci where there was a significant sex-specific difference. bFractional excretion of uric acid (FEUA) was tested by Köttgen and colleagues [4] on a considerably smaller subset (n = 6,799), meaning that inadequate power may contribute to lack of association seen at loci of weaker effect. cA probable causal gene either has very strong functional evidence (SLC2A9 and ABCG2) or has strong functional evidence combined with association signal restricted to the gene (PDZK1 and SLC22A11) or has very strong expression single-nucleotide polymorphism (eSNP) evidence (INHBB). dA ‘strongest candidate’ is listed when the locus contains a candidate with strong functional evidence (GCKR, SLC17A1-A4, and SLC22A12) or has the association signal tightly restricted to the named gene or has strong eSNP evidence (MLXIPL). eRREB1, ras responsive element (zinc-finger) binding protein, has been genetically implicated in type 2 diabetes associated end-stage kidney disease [60]. PRKAG2, protein kinase, AMP-activated, gamma 2 non-catalytic subunit, has been genetically implicated in blood pressure control [61]. HNF4G, hepatocyte nuclear factor 4G, has been genetically implicated in obesity [62]. MLXIPL, carbohydrate element-responsive binding protein, has been identified as a pleiotropic gene for metabolic syndrome and inflammation [63]. f PTPN11 is approximately 1 Mb downstream of the association signal and does not harbor any association signal. A1CF, APOBEC1 (APOB mRNA editing enzyme) complementation factor; GRAIL, Gene Relationships Across Implicated Loci; HLF, hepatic leukemia factor; IGFR1, insulin-like growth factor 1 receptor.
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Arthritis Research & Therapy

ISSN: 1478-6362

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