PhenoModifier-Variant Detail

Variant "MBOAT7:c.50G>C(p.Gly17Ala)"

Search result: 1 record

Variant information

Gene:

MBOAT7

Variant:

MBOAT7:c.50G>C(p.Gly17Ala)

Genomic location:

chr19:54676763(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_001145303.2:c.50G>C(p.Gly17Ala)
protein_coding	NM_144686.3:c.50G>C(p.Gly17Ala)
protein_coding	NM_024298.4:c.*975G>C
protein_coding	NM_001146056.2:c.*975G>C
protein_coding	NM_001146083.2:c.*975G>C

dbSNP ID:

rs641738

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered susceptibility(1)

Detail：

Target disease:

Nonalcoholic Fatty Liver Disease (DOID_0080208)

Effect type:

Expressivity

Modifier effect:

Altered susceptibility

Evidence:

OR=1.65, 95% CI: 1.08-2.55; n=765

Effect:

The MBOAT7 rs641738 T allele is associated with reduced MBOAT7 expression and may predispose to HCC in patients without cirrhosis

Reference:

PMID28674415

Title:

MBOAT7 rs641738 variant and hepatocellular carcinoma in non-cirrhotic individuals.

Species studied:

Human

Abstract:

Nonalcoholic fatty liver disease (NAFLD) represents an emerging cause of hepatocellular carcinoma (HCC), especially in non-cirrhotic individuals. The rs641738 C>T MBOAT7/TMC4 variant predisposes to progressive NAFLD, but the impact on hepatic carcinogenesis is unknown. In Italian NAFLD patients, the rs641738 T allele was associated with NAFLD-HCC (OR 1.65, 1.08-2.55; n=765), particularly in those without advanced fibrosis (p<0.001). The risk T allele was linked to 3'-UTR variation in MBOAT7 and to reduced MBOAT7 expression in patients without severe fibrosis. The number of PNPLA3, TM6SF2, and MBOAT7 risk variants was associated with NAFLD-HCC independently of clinical factors (p<0.001), but did not significantly improve their predictive accuracy. When combining data from an independent UK NAFLD cohort, in the overall cohort of non-cirrhotic patients (n=913, 41 with HCC) the T allele remained associated with HCC (OR 2.10, 1.33-3.31). Finally, in a combined cohort of non-cirrhotic patients with chronic hepatitis C or alcoholic liver disease (n=1121), the T allele was independently associated with HCC risk (OR 1.93, 1.07-3.58). In conclusion, the MBOAT7 rs641738 T allele is associated with reduced MBOAT7 expression and may predispose to HCC in patients without cirrhosis, suggesting it should be evaluated in future prospective studies aimed at stratifying NAFLD-HCC risk.