. Author manuscript; available in PMC: 2013 May 24.

Published in final edited form as: Nat Rev Drug Discov. 2011 Dec 1;10(12):945–963. doi: 10.1038/nrd3599

Table V.

Mutation and polymorphism associated with human diseases

CCN	Identified mutation & polymorphism	Associated human diseases	Refs.
CCN1	• rs3753794, rs3753793 and rs2297140, rs2297141 and IVS 2+50	• Plasma HDL-cholesterol levels in obese individuals	¹⁹¹
	• rs954353	• Colorectal cancer (CRC)	¹⁹²

CCN2	• −945 (G to C) substitution	• Susceptibility to systemic sclerosis	¹⁶²
	• rs9399005	• Susceptibility to systemic sclerosis	¹⁶⁴
	• rs6918698	• Susceptibility to systemic sclerosis	¹⁶³
	• rs9402373 and rs12526196	• Severity of hepatic fibrosis (HF)	¹⁹³
	• −945 GG genotype	• Cardiovascular events of stroke and myocardial infarction (MI) in surviving hemodialysis (HD) patients	¹⁹⁴
	• −447C	• Higher degree of calcification in patients with symptomatic aortic stenosis	¹⁹⁵
	• −20 GG genotype	• Susceptibility to nephropathy in type I diabetes	¹⁹⁶

CCN3	N/A

CCN4	• 2364 (A to G) substitution	• Prevalence of hypertension	¹⁹⁷
	• 2365 AA genotype	• Spinal osteoarthritis with high endplate sclerosis	¹⁹⁸

CCN5	N/A

CCN6	• Germline mutations (likely loss of function)	• Autosomal recessive disorder progressive pseudorheumatoid dyaplasia (PPD)	¹⁶⁰
	• Somatic mutation (frameshifts at a polyadenosine tract)	• Gastrointestinal tumors from patients with mutation in the mismatch repair pathway	¹⁹⁹
	• 84 AA genotype	• Susceptibility to juvenile idiopathic arthritis (JIA)	²⁰⁰