{{Rsnum
|rsid=2228603
|Gene=NCAN
|Chromosome=19
|position=19219115
|Orientation=plus
|GMAF=0.04683
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=Associated with Nonalcoholic Fatty Liver Disease.
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|effect1=
|effect2=
|effect3=hepatic steatosis
|Gene_s=NCAN
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 81.4 | 17.7 | 0.9
| HCB | 82.4 | 17.6 | 0.0
| JPT | 86.5 | 12.6 | 0.9
| YRI | 99.3 | 0.7 | 0.0
| ASW | 96.5 | 1.8 | 1.8
| CHB | 82.4 | 17.6 | 0.0
| CHD | 93.6 | 6.4 | 0.0
| GIH | 81.6 | 17.3 | 1.0
| LWK | 99.1 | 0.9 | 0.0
| MEX | 98.3 | 1.7 | 0.0
| MKK | 98.7 | 1.3 | 0.0
| TSI | 91.2 | 8.8 | 0.0
| HapMapRevision=28
}}

[[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 {{PMID|21423719|OA=1
}}.    

{{GWAS Summary
|SNP=rs2228603
|PubMedID=21423719
|Condition=Nonalcoholic fatty liver disease
|Title = Genome-Wide Association Analysis Identifies Variants Associated with Nonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits
|Gene=NCAN
|Risk Allele=T
|pValue=5.29E-5
|OR=1.65
|95CI=(1.15-2.87) 
|OA=1
}}

{{GWAS Summary
|SNP=rs2228603
|PubMedID=21423719
|Condition=Nonalcoholic fatty liver disease
|Title = Genome-Wide Association Analysis Identifies Variants Associated with Nonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits
|Gene=NCAN
|Risk Allele=T
|pValue=6.82E-10
|OR=1.90
|95CI=NR 
|OA=1
}}

{{PMID Auto
|PMID=22719876
|Title=Genetic Polymorphisms of the Human PNPLA3 Gene Are Strongly Associated with Severity of Non-Alcoholic Fatty Liver Disease in Japanese
|OA=1
}}

{{PMID Auto
|PMID=18193044
|Title=Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
|OA=1
}}

{{PMID Auto
|PMID=18852197
|Title=Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.
|OA=1
}}

{{PMID Auto
|PMID=19802338
|Title=Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.
|OA=1
}}

{{GET Evidence
|gene=NCAN
|aa_change=Pro92Ser
|aa_change_short=P92S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2228603
|overall_frequency_n=573
|overall_frequency_d=10758
|overall_frequency=0.0532627
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=5
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.993
|nblosum100=3
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=24477042
|Title=Genetic variants in GCKR and PNPLA3 confer susceptibility to nonalcoholic fatty liver disease in obese individuals
}}

{{PMID Auto
|PMID=24946282
|Title=A common polymorphism in the NCAN gene is associated with hepatocellular carcinoma in alcoholic liver disease
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}