Rs2228603

rs2228603 is a SNP in the NCAN gene (also known as CSPG3), coding for the neurocan core protein. The T risk allele results in a proline to serine missense mutation at position 92 of the protein.

In a large GWAS of individuals of European descent published in March, 2011, rs2228603 was found to be associated with nonalcoholic fatty liver disease (NAFLD), as evidenced by hepatic steatosis found by CT scanning and confirmed by histology. The investigators confirmed their initial findings with using the same case cohort and two separate control groups and found genome-wide significant odds ratios of 1.65 (95% CI = 1.15-2.87; p=5.29E-5; p=6.82E-10) and 1.9 (95% CI not reported) NAFLD is associated with higher LDL-C and lower LDL-C levels as well as impaired fasting glucose and increased risk of insulin resistance and diabetes. However, rs2228603 was found to be associated with lower triglycerides and plasma LDL-Cholesterol in this study.