Table 4

Stratified association between rare non-synonymous variants of ABCG2 and gout susceptibility by common variants of ABCG2, Q126X and Q141K

Sample setNumberCarrier*Frequency (%)†NumberCarrier*Frequency (%)†p ValueOR (95% CI)
All480306.3480153.10.0222.1 (1.1 to 3.9)
Without Q126X425307.1457153.30.0112.2 (1.2 to 4.2)
Without Q126X or Q141K1311410.724793.66.4×10-3 3.2 (1.3 to 7.5)
  • Only non-synonymous SNVs or indels with minor allele frequency less than 1% were considered rare non-synonymous variants in this analysis.

  • Since the P268S variant of ABCG2 did not decrease urate transport activity, it was excluded from this analysis.

  • The A149P variant of ABCG2 was also excluded from this analysis due to its scores of SIFT and PolyPhen-2 as well as a previous report of functional analysis.18

  • *The number of carriers with rare non-synonymous variants of ABCG2.

  • †The percentage of cases or controls carrying rare non-synonymous variants of ABCG2.

  • ABCG2, ATP-binding cassette transporter subfamily G member 2; indels, short insertions and deletions; PolyPhen-2, Polymorphism Phenotyping v2; SIFT, Sorting Intolerant from Tolerant; SNVs, single nucleotide variants.