Table 1 Significant genes involved in alcoholic liver disease

RASGRF2

Ras protein-specific guanine nucleotide-releasing factor 2

5q14.1

5924

31

1237

This gene encodes a calcium-regulated nucleotide exchange factor activating RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby coordinating the signaling of distinct mitogen-activated protein kinase pathways.

rs26907

[18]

ALDH2

Aldehyde dehydrogenase 2

12q24.12

217

13

517

Aldehyde dehydrogenase enzymes oxidize aldehydes to generate carboxylic acids for use in the muscle and heart. Numerous aldehyde dehydrogenase genes exist, of which ALDH2 is best known for its role in alcohol oxidation.

A single nucleotide polymorphism (SNP) at exon 12

[19]

NFE2L2

Nuclear factor, erythroid 2-like 2

2q31.2

4780

6

605

This gene encodes a transcription factor that is a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes that contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation, which includes the production of free radicals.

rs35652124

rs4893819

[20]

ADH1B

Alcohol dehydrogenase 1B

4q23

125

10

375

The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products.

rs1229984

[21]

PNPLA3

Patatin-like phospholipase domain-containing 3

22q13.31

80339

9

481

The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane-bound, may be involved in the balance of energy usage/storage in adipocytes.

rs738409

[22]

DRD2

Dopamine Receptor D2

11q23.2

1813

9

443

This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia.

rs1799732

rs17294542

rs1800497

[23]

MTHFR

Methylenetetrahydrofolate reductase

1p36.22

4524

12

656

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine re-methylation to methionine.

rs1801133

[24]

TM6SF2

Transmembrane 6 superfamily member 2

19p13.11

53345

10

377

Regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content. May function as sterol isomerase.

rs5854292

[25]

IL-1b

Interleukin 1 beta

2q14.1

3553

7

269

IL1RL1is a protein coding gene. Among its related pathways are innate lymphoid cell differentiation pathways and cytokine signaling in the Immune system.

polymorphism in exon 5 of the IL-1b gene

[26]

CYP2E1

Cytochrome P450 family 2 subfamily E member 1

10q26.3

1571

9

493

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids, and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation.

polymorphisms in CYP2E1 Pst I/Rsa I in 59-flanking region and CYP2E1 Dra I in intron 6 respectively

[27]

MBOAT7

Membrane-bound O-acyltransferase domain-containing 7

19q13.42

79143

9

472

This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor.

rs641738

[2]