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Table 3 Bioinformatics and cell-based functional studies of the genetic variants associated with bitter taste perception

From: Bivariate genome-wide association analysis strengthens the role of bitter receptor clusters on chromosomes 7 and 12 in human bitter taste

Trait Index SNP GENCODE genes Non-synonymous SNPs in LD (r2 0.8) with index SNP eQTLa Cell-based functional analysisb
Quinine rs10772420 TAS2R19 rs10772420 in TAS2R19; rs10845295, rs10845293 and rs10772423 in TAS2R31c TAS2R10, TAS2R14, TAS2R19, TAS2R20, TAS2R31, TAS2R43, TAS2R50, TAS2R64P T2R4, T2R7, T2R10, T2R14, T2R31, T2R39, T2R40, T2R43, T2R46 [18]
Caffeine rs2597979 PRR4, TAS2R31 rs10743938 in TAS2R31 TAS2R14, TAS2R15, TAS2R20, TAS2R31, TAS2R43, TAS2R45, TAS2R64P T2R7, T2R10, T2R14, T2R43, T2R46 [18]
SOA rs67487380 PRR4   TAS2R10, TAS2R12, TAS2R14, TAS2R15, TAS2R19, TAS2R20, TAS2R31, TAS2R43, TAS2R46, TAS2R64P T2R46 [32]
DB rs10261515 KIAA1147   TAS2R4, TAS2R5 T2R4, T2R8, T2R10, T2R13, T2R30, T2R39, T2R43, T2R46 [18]
PROP rs10246939 MGAM, TAS2R38 rs713598, rs1726866 and rs10246939 in TAS2R38 TAS2R5, TAS2R38 T2R38 [18]
  1. aExpression of these bitter taste receptor genes is associated with the genotype of the index SNP and/or its correlated SNPs (r20.8)
  2. bBitter taste receptors shown to respond to bitter substances in cell-based functional analysis using human embryotic kidney cells [18, 32]
  3. cThe 3 SNPs, previously reported to form a haplotype with rs10772420 [19, 20], in TAS2R31 did not show up in the HaploReg analysis when using the inclusion criteria of r2 0.8. They were included due to their strong correlations with rs10772420 (r2 0.97) in the present sample