Table 3. Examples of genetic variants in UTRs reported in the GWAS Catalog and associated with diseases.

The table reports, from left to right: the UTR region where each variant is located; the affected disease; the gene where the variant is predicted to map; the disease-associated polymorphism (SNP); the risk allele frequency; its statistical significance, expressed as p value; the impact of the associated variant on disease, expressed as odds ratio; and the Pubmed ID of the paper where the result has been reported, as indicated in GWAS Catalog.

UTR region	Disease	Mapped gene	SNP	Risk allele frequency	p value	Odds ratio	Pubmed ID
5′UTR	Duodenal ulcer	PSCA	rs2294008	0.37	2.E-33	1.84	22387998
	Primary biliary cholangitis	IL21R	rs2189521	0.70	4.E-16	1.41	28425483
	Chronic hepatitis B infection	CD40	rs1883832	0.37	3.E-15	1.19	25802187
3′UTR	Testicular germ cell tumor	KITLG	rs995030	0.80	2.E-50	2.26	23666240
	Venous thromboembolism	F5	rs6427196	0.93	4.E-51	2.07	23650146
	Dementia and core Alzheimer’s disease neuropathologic changes	PVRL2	rs6857	0.29	2.E-62	1.61	25188341
	Chronic hepatitis B infection	HLA-DPB1	rs9277535	0.58	1.E-70	1.52	25802187
	Chronic lymphocytic leukemia	IRF4	rs9391997	0.49	9.E-22	1.35	26956414
	Atrial fibrillation	TBX5	rs883079	0.42	5.E-15	1.18	28416822
	Type 2 diabetes	LOC105375716, SLC30A8	rs3802177	0.70	2.E-18	1.16	24509480
	Coronary heart disease	ZPR1	rs964184	0.13	1.E-17	1.13	21378990
	Epithelial ovarian cancer	HOXD3	rs711830	0.32	3.E-15	1.12	28346442
	Myocardial infarction	CELSR2	rs7528419	0.80	1.E-15	1.11	26343387
	Breast cancer	SLC4A7	rs4973768	0.47	2.E-30	1.10	23535729
	Inflammatory bowel disease	FEN1	rs4246215	0.34	2.E-15	1.08	23128233