Variants influencing age at diagnosis of HNF1A-MODY

Table 4 Results of GWAS analysis depending on causative variant location in the validation set

SNP ID	Gene	MAF	Effective allele	Est. G	Est G:D domain	Est G:T domain	ANOVA p-value
rs2305198	HK1	0.354	C	1.381	7.655	0.994	0.396
rs7079157	HK1	0.165	C	− 0.205	15.148	5.848	0.058
rs9939578	TVP23A	0.144	G	− 0.639	NA	NA	NA
rs10865231	STON1-GTF2A1L	0.675	G	− 0.141	9.985	3.494	0.153
rs2825115	Intergenic	0.483	C	− 0.266	15.182	3.409	0.068
rs2637248	LRMDA-215	0.176	A	− 1.021	− 10.563	3.684	0.019
rs6848074	LOC101929199	0.250	A	0.205	NA	NA	NA
rs4949634	ST6GALNAC3	0.359	A	1.175	NA	− 1.906	0.639
rs210307	AL163953.3	0.231	T	0.709	− 9.281	0.549	0.127

D dimerization domain, GWAS genome-wide association study, ID identifier, MAF minor allele frequency, SNP single-nucleotide polymorphism, T transactivation domain, Est G. main effect of the risk allele estimated in the Linear Mixed Model; Est G:D the estimated interaction effect of the risk allele and the indicator variable of the dimerization domain; Est G:T the estimated interaction effect of the risk allele and the indicator variable of the transactivation domain; GxE p-value: the p-value for the null hypothesis that the Est G:T and Est G:D equal zero; Joint p-value the p-value for the null hypothesis that Est G, Est G:T and Est G:D equal zero

ISSN: 1528-3658