The results suggest that significant associations of the rs10206961 and rs14242 in <i>VAMP5</i> with an increased risk of HSCR in Southern Chinese, especially in LHSCR patients.
Genetic variants of VAMP5 showed increased association signals in the TCA subgroup of HSCR patients (minimum p = 9.69 × 10(-5) , OR = 3.93 at rs10206961) compared to other subgroups, even after Bonferroni correction (pcorr = 0.002).
In additional combined analysis after imputation based on our previous GWAS, five SNPs still retained significant associations with the TCA subtype (minimum pcorr = 0.006 at rs10206961).