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Table 3 Summary of lipid-related pharmacogenetic studies according to biochemical/clinical phenotypes

From: Pharmacogenetics of lipid diseases

Phenotype(s)

Clinical trial/population

Medication

Statistically significant gene-therapy interaction with biochemical or clinical outcomes (locus involved)

Reference

TC/LDL-C/apoB

LCAS

FLUVA

Y (ACE)

[75]

 

PLAC1

PRAVA

N (APOA4)

[35]

 

Brazil

FLUVA

Y (APOB)

[67]

 

Finland

LOVA

N (APOB)

[31]

 

USA

ATORVA

Y (APOE)

[36]

 

Spain

ATORVA+BEZA

Y (APOE)

[41]

 

Japan

BEZA

Y (APOE)

[37]

 

LCAS

FLUVA

Y (APOE)

[39]

 

KORFPS

HRT

Y (APOE)

[46]

 

Japan

HRT

Y (APOE)

[47]

 

NMAPS

HRT

N (APOE)

[48]

 

Canada

LOVA

Y (APOE)

[34]

 

USA (FH)

LOVA

N (APOE)

[30]

 

Finland

LOVA

N (APOE)

[32]

 

PLAC1

PRAVA

Y (APOE)

[35]

 

Japan

PRAVA

Y (APOE)

[40]

 

Japan

PRAVA

Y (APOE)

[33]

 

Spain

PRAVA

N (APOE)

[43]

 

Sweden (FH)

PRAVA/CHOLY

N (APOE)

[32]

 

Canada

PROB

Y (APOE)

[28]

 

Netherlands (FH)

SIMVA

N (APOE)

[29]

 

FH

SIMVA

Y (APOE)

[59]

 

Canada (FH)

SIMVA

Y (APOE)

[54]

 

Netherlands

SIMVA

Y (CYP2D6)

[80]

 

Germany

SIMVA

N (CYP2D6)

[81]

 

Brazil (FH)

FLUA

Y (LDLR)

[57]

 

Denmark (FH)

FLUVA

N (LDLR)

[60]

 

Norway (FH)

LOVA

N (LDLR)

[51]

 

Japan (FH)

PRAVA+CHOLY

Y (LDLR)

[53]

 

South Africa (FH)

SIMVA

Y (LDLR)

[50]

 

FH

SIMVA

N (LDLR)

[59]

 

UK (FH)

SIMVA

Y (LDLR)

[56]

 

Netherlands (FH)

SIMVA

N (LDLR)

[55]

 

Canada (FH)

SIMVA

Y (LDLR)

[54]

 

UK (FHRT)

SIMVA (+)

N (LDLR)

[52]

 

Spain (FH)

SIMVA

Y (LDLR)

[58]

 

Japan

HRT

N (LIPC)

[103]

 

Spain (FH)

SIMVA

N (PON1)

[72]

 

LCAS

FLUVA

N (PON1)

[73]

HDL-C/APOA1

LCAS

FLUVA

Y (ABCA1)

[66]

 

Canada

GEMF

Y (ACE)

[77]

 

Canada

LOVA

Y (APOE)

[34]

 

Canada

FENO

Y (APOExPPARAxLPL)

[42]

 

Japan

HRT

 

[45]

 

DALI

ATORVA

 

[25]

 

Korea

HRT

Y (APOE)**

[102]

 

Japan

Statin

(LDL/HDL)

[24]

 

ERA

HRT

Y (CETP)

[68]

 

Japan

HRT

N (CETP)

[103]

 

Canada

FENO

Y (CETP)

[42]

 

LCAS

FLUVA

Y (ESR1)

[70]

 

LCAS

FLUVA

N (LIPC)

[73]

 

Spain (FH)

SIMVA

N (LPL)

[72]

 

Canada

GEMF

Y* (LPL)

[71]

 

Canada

FENO

N (PON1)

[42]

 

Canada

FENO

N (PON1)

 
   

Y (PPARA)

 
   

N (PPARG)

 

TG

Spain

ATORVA+BEZA

Y (APOE)

[41]

 

USA

 

Y (APOE)

[36]

 

Canada

ATORVA

Y

[42]

 

DALI

FENO

(APOExPPARAxLPL)

[25]

 

Canada

ATORVA

 

[42]

 

Canada

FENO

Y (CETP)

[42]

  

FENO

N (LPL)

 
   

N (PPARG)

 

Disease end points/disease assessment

LCAS

FLUVA

Y (ACE)

[75]

 

CARE

PRAVA

Y (ACExGP3A)

[76]

 

4S

SIMVA

Y (APOE)

[38]

 

REGRESS

PRAVA

N [AT2R1]

[101]

 

WOSCOPS

PRAVA

N (B1AR)

[78]

 

LCAS

FLUVA

N (CD14)

[79]

 

REGRESS

PRAVA

Y (CETP)

[21]

 

WOSCOPS

PRAVA

Y (CETP)

[23]

 

WOSCOPS

PRAVA

Y (Factor XII)

[82]

 

REGRESS

PRAVA

Y (FGA)

[83]

 

LCAS

FLUVA

N (IL6)

[79]

 

WOSCOPS

PRAVA

Y (IL6)

[84]

 

FATS

LOVA/COLEP/

Y (LIPC)

[65]

 

REGRESS

NIA

N (LPL)

[69]

 

REGRESS

PRAVA

Y (MMP3)

[85]

 

LCAS

PRAVA

Y* (LPL)

[70]

 

LCAS

FLUVA

N (PON1)

[73]

 

Spain (FH)

FLUVA

N (PON1)

[72]

 

LCAS

SIMVA

N (TNFA)

[79]

  

FLUVA

  
  1. Phenotypes
  2. apoB: Apolipoprotein B; APOA1: apoliprotein AI; HDL: High-density lipoprotein cholesterol; LDL-C: low-density lipoprotein-C; TC: total cholesterol; TG: triglyceride.
  3. Studies/populations
  4. 4S: Scandinavian Simvastatin Survival Study; CARE: Cholesterol and Recurrent Events; DALI: Diabetes Atorvastatin Lipid Intervention; ERA: Estrogen Replacement and Atherosclerosis trial; FATS: Familial Atherosclerosis Treatment Study; HRT: hormone replacement therapy; KORFPS: Kuopio Osteoporosis Risk Factor and Prevention Study; LCAS: Lipoprotein and Coronary Atherosclerosis Study; NMAPS: New Mexico Aging Process Study; PLAC1: Pravastatin Limitation of Atherosclerosis in Coronary Arteries Study-1; REGRESS: Regression Growth Evaluation Statin Study; WOSCOPS: West Of Scotland Coronary Prevention Study.
  5. Medications
  6. ATORVA: atorvastatin; BEZA: bezafibrate; CHOLY: cholestyramine; COLEP: colestipol; FENO: fenofibrate; FLUVA: fluvastatin; GEMF: gemfibrozil; LOVA: lovastatin; NIA: niacin; PRAVA: pravastatin; PROB: probucol; SIMVA: simvastatin.
  7. Genes
  8. ABCA1: atp-binding cassette, subfamily a, member 1; ACE: Angiotensin I-converting enzyme; APOB: Apolipoprotein B; APOE: Apolipoprotein E; APOA4: Apolipoprotein A-IV; AT2R1: Angiotensin II receptor, vascular type 1; B1AR: Beta-1-adrenergic receptor; CD14: Monocyte differentiation antigen CD14; CETP: Cholesteryl ester transfer protein; CYP2D6: Cytochrome P450, subfamily IID; ESR1: Estrogen receptor 1; Factor XII: Coagulation factor XII; FGA: Fibrinogen, A alpha polypeptide; GP3A: Platelet-specific antigen system PL(A1); IL6: Interleukin 6; LDLR: Low-density lipoprotein receptor; LIPC: Lipase, hepatic; LPL: Lipoprotein lipase; MMP3: Matrix metalloproteinase 3; PON1: Paraoxonase 1; PPARA: Peroxisome proliferator-activated receptor-alpha; PPARG: Peroxisome proliferator-activated receptor-gamma; TNFA: Tumour necrosis factor, alpha.
  9. *borderline significance (p ≈ 0.05); **the phenotype reported is low-density lipoprotein-C/high-density lipoprotein-C.
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Human Genomics

ISSN: 1479-7364