Table 1 Genes, polymorphisms and the main function their protein
Genes (Official symbol) | Polymorphisms | Main function of their protein |
|---|---|---|
Angiotensin I converting enzyme (ACE) | I/D alleles (rs4343) | Involved in regulating blood pressure |
Angiotensinogen (AGT) | M235T (rs699) | Involved in regulating blood pressure |
T174M (rs4762) | ||
A-20C (rs5050) | ||
A-6G (rs5051) | ||
Apolipoprotein A-I (APOA1) | G-75A (rs670) | Component of HDL particles |
84 T/C (rs5070) | ||
Apolipoprotein A-IV (APOA4) | Asn147Ser (rs5104) | Activates lecithin-cholesterol acyltransferase (LCAT) |
Apolipoprotein A-V (APOA5) | T-1131C (rs662799) | Determinant of plasma TG level |
−3 A/G (rs651821) | ||
S19W (rs3135506) | ||
Gly185Cys (rs2075291) | ||
Apolipoprotein B (APOB) | XbaI (rs693) | Component of LDL particles |
Apolipoprotein C-III (APOC3) | SstI (rs5128) | Major component of TG-rich lipoproteins |
T-455C (rs2854116) | ||
Apolipoprotein E (APOE) | Cys112Arg (rs429358) | Acts as a ligand receptor in the process of catabolism of lipoproteins |
Arg158Cys (rs7412) | ||
G-219T (rs405509) | ||
ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1) | Arg219Lys (rs2230806) | Transports cholesterol and phospholipids through the cell membrane to outside the cell |
Cholesteryl ester transfer protein, plasmatique (CEPT) | TaqIB (rs708272) | Transfers cholesterol between lipoproteins |
C-629A (rs1800775) | ||
C-4502T (rs183130) | ||
G-971A (rs4783961) | ||
Ile405Val (rs5882) | ||
Cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1) | Msp1 (rs4646903) | Catalyses reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids |
A4889G (rs1048943) | ||
Fat mass and obesity associated (FTO) | rs9939609 | Linked to obesity and diabetes |
Glucokinase (hexokinase 4) regulator (GCKR) | rs780094 | Inhibitor and glucokinase |
Insulin induced gene 2 (INSIG2) | rs7566605 | Connected to the metabolism of lipids, cholesterol, and obesity |
Lipoprotein lipase (LPL) | HindIII (rs320) | Hydrolyses TG-rich lipoproteins |
Ser447Ter (rs328) | ||
Lipase (hepatic) (LIPC (HL)) | C-514T (rs1800588) | Hydrolyses TGs and phospholipids of plasma lipoproteins |
G-250A (rs2070895) | ||
Methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR) | C677T (rs1801133) | Catalyzes the conversion of a co-substrate for homocysteine |
Paraoxonase 1 (PON1) | L55M (rs854560) | Reduces LDL-oxidation |
Gln192Arg (rs662) | ||
C-107T (rs705379) | ||
Peroxisome proliferator-activated receptor gamma 2 (PPARG2) | Pro12Ala (rs1801282) | Regulator of adipocyte differentiation |
−681 C/G (rs10865710) | ||
Transcription factor 7-like 2 (TCF7L2) | C47833T (rs7903146) | Transcription factor |