PNPLA3

Gene name: patatin-like phospholipase domain containing 3
OMIM ID: 609567
Chromosome location: 22q13.31

Polymorphisms

Disease/Phenotype	hepatocellular carcinoma, susceptibility to
Reference transcript	NM_025225.2
DNA Change	c.444C>G
A.A. Change	p.Ile148Met
Exon/Intron	exon 3
Variation Type	substitution
Reference SNP	rs738409
Cases	101 HCC patients
Controls	132 Healthy controls
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value I 59.9% 70.5% 1 M 40.1% 29.5% 1.60 (1.08-2.35) 0.017 I/I 42.6% 50% 1 I/M 34.6% 40.9% 0.99 (0.56-1.76) 0.986 M/M 22.8% 9.1% 2.95 (1.31-6.71) 0.005
Reference	Ezzikouri S, Alaoui R, Tazi S, Nadir S, Elmdaghri N, Pineau P, Benjelloun S.The adiponutrin I148M variant is a risk factor for HCV-associated liver cancer in North-African patients. Infect Genet Evol. 2013 Nov 20;21C:179-183.

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