Role of Genetic Alterations in the NLRP3 and CARD8 Genes in Health and Disease

Table 1

Association studies confirming the role of NLRP3 and CARD8 gene polymorphisms in inflammatory disease.

Disease	Gene	SNPs	Cohorts	Reference
CD	NLRP3	rs4353135, rs4266924, rs6672995, rs10733113, rs107635144, rs55646866	European	[47]
	CARD8	rs2043211	Korean, British	[48, 49]
		rs1972619	Korean	[48]
	NLRP3/CARD8	rs35829419/rs2043211	New Zealander, Swedish	[50, 51]
CVD	NLRP3	rs35829419	Swedish (MI)	[52]
	CARD8	rs2043211	Chinese (ischemic stroke)	[53]
	NLRP3/CARD8	rs35829419/rs2043211	New Zealander (AAA)	[54]
RA	NLRP3	rs4353135	Taiwanese	[55]
	CARD8	rs2043211	Swedish	[56]
	NLRP3/CARD8	rs35829419/rs2043211	Swedish	[57]
AS	CARD8	rs2043211	Swedish	[57]
Celiac disease	NLRP3	rs35829419	Italian and Brazilian	[58, 59]
T1D	NLRP3	rs10754558	Brazilian	[58]
Gout	NLRP3	rs7512998	Chinese	[60]
AD	NLRP3	rs35829419	Northern Chinese	[61]
		rs10754558	Northern Chinese	[61]
		rs2027432	Northern Chinese	[61]
	CARD8	rs2043211	Brazilian	[62]

CD: Crohn’s disease; CVD: Cardiovascular diseases; RA: Rheumatoid arthritis; AS: Ankylosing spondylitis; T1D: Type 1 diabetes; AD: Alzheimer’s disease; MI: Myocardial infarction; AAA: Abdominal aortic aneurysms.