Table 1.
SNPa | Locus | Chr | Positionb | Gene | Alleles | Trans-ethnic meta-analysis (SU)c | Association analysis (Gout)d | |||
---|---|---|---|---|---|---|---|---|---|---|
Riske | Non-risk | Log10BFf | Posterior probability | OR (95%CI) | p valueg | |||||
rs2307394 | 2q23.1 | 2 | 148,716,428 | ORC4 (ACVR2A) | C | T | 6.72 | 0.480 | 1.15 (1.08, 1.24) | 2.80 × 10–5 |
rs10994856 | 10q11.23 | 10 | 52,645,248 | A1CF | A | G | 13.23 | 0.024 | 1.31 (1.13, 1.52) | 2.78 × 10–4 |
rs7953704 | 12q24.31 | 12 | 122,625,992 | MLXIP | G | A | 9.66 | 0.006 | 1.14 (1.06, 1.21) | 2.08 × 10–4 |
rs2957742 | 15q23 | 15 | 72,302,894 | MYO9A (PKM) | C | G | 8.54 | 0.027 | 1.13 (1.06, 1.21) | 3.54 × 10–4 |
rs4886755 | 15q24.2 | 15 | 76,298,132 | NRG4 | G | A | 12.31 | 0.010 | 1.13 (1.05, 1.21) | 6.83 × 10–4 |
a dbSNP rs number
b SNP positions are based on NCBI human genome reference sequence Build hg19
c Results of trans-ethnic meta-analysis of SU were obtained from Ref.2 (Nakatochi, et al., Commun Biol, 2019)
d Results of genome-wide meta-analysis of Japanese clinically-defined gout were obtained from Ref.1 (Nakayama, et al., Ann Rheum Dis, 2020)
e Risk allele is defined as a base which increases SU level and gout risk
f Log10 (Bayes’ factor) of > 6 was adopted for a genome-wide significance level (Ref.2)
g The significance level α was set to a p value of < 1.19 × 10–3 (= 0.05/42 with Bonferroni correction)
Loci identified for the first time in clinically-defined gout cases are shown in bold. Of three loci, two loci including ORC4 and MYO9A were identified as novel gout loci
SNP Single nucleotide polymorphism, Chr Chromosome, SU Serum urate, BF Bayes’ factor, OR Odds ratio, 95%CI 95% Confidence interval