**2.4 GWAS and HDL-C Levels**

Results from genomewide association studies (GWAS) have confirmed associations between polymorphisms in viable candidate genes including CETP, LPL, HL/LIPIC, EL/LIPG, ABCA1, LCAT and the APOA1/C3/A4/A5 gene cluster and HDL-C levels (Boes et al., 2009). GWAS have also identified several novel putative loci, which are discussed in detail in a recent review (Teslovich et al., 2010).

Dyslipidemia: Genetics and Role in the Metabolic Syndrome 109

ABCG8 A632V rs6544718 Va 982 p=0.02 (Jakuljl et al.

APOB rs515135 0.19 (A) Va 982 p=2.4X10-20 Waterworth

rs7412 0.06 (T) N-HB 683 -22.52mg/dl;

rs429358 0.076 (T) M-A 739 10.54mg/dl;

rs10402271 0.67 (T) Va 6,519 +2.62 mg/dl; p

APOB rs562338 0.18 (A) Va 10,849 +4.89 mg/dl;

APOB rs754523 0.28 (A) Va 6,542 +2.78 mg/dl;

APOB rs693 0.42 (G) Va 3,222 +2.44 mg/dl;

APOB rs7575840 0.28 (T) F 5054 0.131

APOC1 rs4420638 0.82 (A) Va 10,806 +6.61 mg/dl;

LDLR rs6511720 0.90 (T) Va 7,442 +9.17 mg/dl; p

PCSK9 rs11206510 0.81 (C) Va 10,805 +3.04 mg/dl;

PCSK9 C679X rs28362286 B 1750 81.5 vs. 106.9

Table 2. Genetic Polymorphisms Associated with LDL-C. See Table 1 legend.

**Size**

(Meta)

(Meta)

(Meta)

(Meta)

(Meta)

(Meta)

(Meta)

rs28362263 0.06 (A) B 1750 95.5 vs. 106.9

PCSK9 E670G rs505151 0.11 (G) W 691 P=0.001 (Chen et al.

**Results (Effect Size, p-value)**

+2.75 mg/dl; p=2x10-8

p=3.6 X 10-12

p=1.3 X10-6

p=0.0034

+4.05 mg/dl; p=4x10-114

p= 3.88x10 -9

+7.14 mg/dl; p=9x10-147

p< 0.0001

p< 0.0001

p = 4.9 X10-24

=1.5 X 10-5


=3.3 X 10-19

p=5.4 X 10-7

+2.01mg/dl; p= 2x10-28

mg/dl;p<0.001

mg/dl;p<0.001


**Reference** 

(Teslovich et al. 2010)

2010)

(Willer et al. 2008)

(Willer et al. 2008)

(Willer et al. 2008)

(Teslovich et al. 2010)

(Haas et al. 2011)

et al. (2010)

(Teslovich et al. 2010)

(Chang et al. 2010)

(Chang et al. 2010)

(Willer et al. 2008)

(Willer et al. 2008)

(Teslovich et al. 2010)

(Willer et al. 2008)

(Willer et al. 2008)

(Teslovich et al. 2010)

(Huang et al. 2009)

(Huang et al. 2009)

2005)

et al. 2011)

(Teslovich et al. 2010)

p=1.44E-05 (Dumitrescu

**Gene Polym. rs Number MAF Ethn. Sample**

ABCG8 rs4299376 0.30 (G) E 95,454

APOB Thr98Ile rs1367117 0.30 (A) E 95,454

APOE rs4420638 0.17 (G) E 95,454

LDLR rs6511720 0.11 (T) E 95,454

PCSK9 rs2479409 0.30 (G) E 95,454

PCSK9 rs11206510 0.81 (T) EA 21,986

SORT1 rs629301 0.22 (G) E 95,454

APOE Arg176

APOE Cys130

PCSK9 A443T

Ala443Thr

APOE/ C1/C4 Cys

Arg
