Variants influencing age at diagnosis of HNF1A-MODY

Table 2 Results of GWAS analysis depending on causative variant location in the discovery cohort

SNP ID	Gene	MAF	Effective allele	Est. G	Est G:D domain	Est G:T domain	GxE p-value	Joint p-value
Ela powina rs2305198	HK1	0.38	C	− 0.068	− 0.205	− 0.050	4.50E−02	2.09E−07
rs7079157	HK1	0.23	C	− 0.067	− 0.245	− 0.055	5.25E−02	3.96E−06
rs9939578	TVP23A	0.12	G	− 0.049	0.213	− 0.151	1.32E−03	4.66E−06
rs10865231	STON1-GTF2A1L	0.26	G	− 0.062	− 0.115	− 0.068	2.04E−01	1.82E−05
rs2825115	Intergenic	0.44	C	− 0.064	− 0.295	0.117	1.14E−05	2.04E−05
rs2637248	LRMDA-215	0.14	G	− 0.141	− 0.218	0.208	3.97E−05	2.44E−05
rs6848074	LOC101929199	0.25	G	− 0.003	0.427	− 0.067	6.04E−06	2.27E−05
rs4949632	ST6GALNAC3	0.34	G	0.056	− 0.409	− 0.113	1.03E−05	2.84E−05
rs210307	AL163953.3	0.23	C	0.142	0.028	− 0.098	7.16E−02	2.86E−05
rs11081446	Regulatory region variant	0.48	G	0.116	− 0.158	− 0.167	3.20E−05	3.07E−05

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

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