The function of ABCG2 as a urate transporter was inferred from genome-wide association analyses and subsequent functional studies, which specifically demonstrated a strong association of a missense SNP in the ABCG2 gene (rs2231142; Q141K) with hyperuricemia [72,73,74], an SNP that could be causally related to at least 10% of all gout cases [50]. The gene discussed is ABCG2; the disease is hyperuricemia.