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

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

Trait	Index SNP	GENCODE genes	Non-synonymous SNPs in LD (r² ⩾ 0.8) with index SNP	eQTL^a	Cell-based functional analysis^b
Quinine	rs10772420	TAS2R19	rs10772420 in TAS2R19; rs10845295, rs10845293 and rs10772423 in TAS2R31^c	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]

^aExpression of these bitter taste receptor genes is associated with the genotype of the index SNP and/or its correlated SNPs (r²⩾0.8)
^bBitter taste receptors shown to respond to bitter substances in cell-based functional analysis using human embryotic kidney cells [18, 32]
^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

ISSN: 1471-2164