Fig. 1

The genotype-phenotype association analysis and luciferase reporter assay. a The relative expression of HOTTIP with different genotypes (compared with AA genotype, ^** P < 0.001; compared with AC genotype, ^## P < 0.001). AA: N = 10, AC: N = 25, CC: N = 15. b The effect of rs1859168 on HOTTIP transcriptional activity as determined by luciferase reporter assay (compared with A allele, **P < 0.001)