Genome-wide association study reveals novel loci for adult type 1 diabetes in a 5-year nested case-control study

Table 3 The expression and splicing quantitative trait loci analysis of target single nucleotide polymorphisms

SNP name	Influence type	Gene symbol	Expression tissues	P value
rs55846421	eQTLs	ARF6	Cells-cultured fibroblasts	0.00015
		KLHDC1	Brain-cerebellum	0.0000022
			Lung	0.000034
			Thyroid	0.00021
		LRR1	Adipose-subcutaneous	8.00 × 10-10
			Adipose-visceral	5.20 × 10-7
			Breast-mammary tissue	8.70 × 10-7
			Esophagus-muscularis	0.000054
			Lung	0.000077
			Nerve-tibial	0.00013
			Thyroid	0.00016
		RHOQP1	Adipose-subcutaneous	3.30 × 10-8
		RP11-596C23.6	Artery-tibial	1.1 × 10-9
			Esophagus-mucosa	2.3 × 10-9
			Artery-aorta	6.0 × 10-8
			Testis	2.9 × 10-7
			Esophagus-muscularis	0.0000019
			Esophagus-gastroesophageal junction	0.0000025
			Muscle-skeletal	0.0000027
			Small intestine-terminal ileum	0.0000042
			Lung	0.000019
			Colon-sigmoid	0.00002
			Spleen	0.000024
			Artery-coronary	0.000031
			Thyroid	0.000061
			Heart-atrial appendage	0.000062
	sQTLs	RPL36AL	Liver	0.0000063
			Brain-nucleus accumbens	0.0000071
rs3117017	eQTLs	COL11A2	Thyroid	2.0 × 10-8
		HCG24	Brain-nucleus accumbens	5.0 × 10-25
			Brain-putamen	6.4 × 10-17
			Brain-cortex	3.0 × 10-14
			Brain-caudate	3.4 × 10-14
			Brain-frontal cortex	4.3 × 10-11
			Brain-anterior cingulate cortex	0.000022
			Brain-hippocampus	0.000025
		HLA-DOA	Whole blood	0.00005
		HLA-DPA1	Cells-cultured fibroblasts	0.000071
		HLA-DPB1	Testis	0.000028
		HLA-DPB2	Brain-nucleus accumbens	1.3 × 10-18
			Brain-caudate	2.4 × 10-13
			Brain-putamen	3.4 × 10-11
			Brain-cortex	3.5 × 10-8
			Brain-hypothalamus	3.6 × 10-7
			Brain-cerebellum	0.000057
		HSD17B8	Thyroid	1.0 × 10-13
			Muscle-skeletal	3.5 × 10-11
			Esophagus-muscularis	1.3 × 10-8
			Artery-tibial	5.6 × 10-7
			Esophagus-gastroesophageal junction	0.0000011
			Colon-sigmoid	0.0000018
			Heart-left ventricle	0.0000028
			Testis	0.0000032
			Adipose-visceral	0.000016
			Artery-aorta	0.000018
			Esophagus-mucosa	0.000029
			Skin-not sun exposed	0.00003
			Cells-cultured fibroblasts	0.000065
		RING1	Pancreas	0.0000059
		RPS18	Artery-tibial	0.000032
			Whole blood	0.000084
		WDR46	Lung	0.000018
	sQTLs	COL11A2	Thyroid	3.5 × 10-8
			Brain-spinal cord	9.0 × 10-7
			Pituitary	0.0000084
		HLA-DPB1	Skin-sun exposed (lower leg)	6.6 × 10-7
			Muscle-skeletal	8.5 × 10-7
			Skin-not sun exposed (suprapubic)	8.6 × 10-7
		HLA-DPB2	Brain-cerebellum	1.9 × 10-12
			Skin-sun exposed (lower leg)	6.6 × 10-7
			Muscle-skeletal	8.5 × 10-7
			Skin-not sun exposed (suprapubic)	8.6 × 10-7
			Brain-spinal cord	0.000004
			Colon-transverse	0.000014
			Artery-tibial	0.000063
			Testis	0.00012
rs75836320	-	-	-	-
rs362071	eQTLs	MED15	Artery-tibial	3.1 × 10-13
			Nerve-tibial	1.2 × 10-11
			Esophagus-muscularis	5.4 × 10-11
			Lung	1.4 × 10-9
			Adipose-subcutaneous	6.5 × 10-9
			Thyroid	8.2 × 10-9
			Spleen	1.4 × 10-8
			Whole blood	3.6 × 10-8
			Artery-aorta	9.0 × 10-8
			Colon-transverse	1.2 × 10-7
			Adrenal gland	2.0 × 10-7
			Adipose-visceral	5.0 × 10-7
			Prostate	5.8 × 10-7
			Liver	9.7 × 10-7
			Esophagus-gastroesophageal junction	0.0000046
			Pancreas	0.0000063
			Skin-sun exposed (lower leg)	0.000015
			Cells-cultured fibroblasts	0.000052
	sQTLs	KLHL22	Skin-sun exposed (lower leg)	0.000003
			Skin-not sun exposed (suprapubic)	0.0000049
		MED15	Muscle-skeletal	3.0 × 10-7

eQTLs: Expression quantitative trait loci; sQTLs: Splicing quantitative trait loci.