Genetics of non-alcoholic fatty liver disease: From susceptibility and nutrient interactions to management

Table 1 List of genome/exome wide association studies and loci identified for non-alcoholic fatty liver disease

Ref.	Phenotype associated with	Ancestry of samples included	Genotyping platform	Discovery sample size	Replication sample size	Genes
Romeo et al[6], 2008	Increased hepatic fat levels and inflammation	Hispanic, African American and European American individuals	Perlegen Sciences Custom array (12138 NS variation)	2111 individuals with MRS measured hepatic steatosis	None	PNPLA3
Chalasani et al[15], 2010	Features of hepatic histology	Non-Hispanic white women	Illumina (324,623 SNPs)	236, non-Hispanic white women	None	FDFT1, rs343062 (Chr 7), COL13A1, rs6591182 (Chr 11), EFCAB4B, rs2499604 (chr 1), PZP, rs1421201 (Chr 18) rs2710833 (Chr 4)
Speliotes et al[16], 2011	CT measured hepatic steatosis	European american including Amish	Affymetrix, Illumina	7126 with CT measured hepatic steatosis	592/1405	PNPLA3, NCAN, PPP1R3B, GCKR, LYPLAL1
Kawaguchi et al[3], 2012	NAFLD	Japanese	Illumina	529 patients consisting of four NAFLD subgroups (Matteoni’s classification)	None	PNPLA3, SAMM50, PARVB, HS3ST1-HSP90AB2P, YIPF1
Kitamoto et al[66], 2013	NAFLD	Japanese	Illumina	392 NAFLD and 934 controls	172 NAFLD and 1012 controls	PNPLA3, SAMM50, PARVB gene
Kozlitina et al[19], 2014	MRS measured hepatic steatosis	Hispanic, African, American and European	Illumina	2,736	None	PNPLA3 and TM6SF2

NAFLD: Non-alcoholic fatty liver disease; CT: Computed tomography; SNPs: Single nucleotide polymorphisms; MRS: Magnetic resonance spectroscopy.