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GCH1 haplotype defined by SNP rs8007267 and in vitro BH4 production. (A) Location of 6 variants typed in the discovery cohort and pattern of linkage disequlibrium (LD, measured as D′) across the GCH1 locus. Rs8007267 and rs2878172 form a haplotype block in strong LD with rs7147286. (B) Ratio of plasma BH4 to total biopterin from whole blood treated with 10 µM forskolin for 24 hr in sickle cell anemia subjects.
