Table 1.
SNPs Used in the Present Study[Note]
| Block and Variant (Symbol, dbSNP rs #) | Gene Name (OMIM #) | Location | Reported Implication |
| 1: | |||
| C677T (V36,1801133) | MTHFR (MIM 607093) | 1p36.3 | Risk factor in vascular disease |
| Arg506Gln (V53, 6025) | F5 (MIM 227400) | 1q23 | Activated protein C resistence |
| Ser128Arg (V61, 5361) | SELE (MIM 131210) | 1q23-25 | Coronary artery disease |
| Leu554Phe (V62, 5355) | SELE (MIM 131210) | 1q23-25 | Coronary artery disease |
| Met235Thr (V42, 699) | AGT (MIM 106150) | 1q42-43 | Hypertension |
| Val7Met (V43, 664) | NPPA (MIM 108780) | 1p36.2 | Hypertension |
| T2238C (V44, 2238) | NPPA (MIM 108780) | 1p36.2 | |
| 2: | |||
| Thr71Ile (V8, 1367117) | APOB (MIM 107730) | 2p24 | Increased plasma low-density lipoprotein cholesterol level |
| Arg3500Gln (V9, 5742904) | APOB (MIM 107730) | 2p24 | Hypercholesterolemia |
| 3: | |||
| Pro12Ala (V19, 1801282) | PPARG (MIM 601487) | 3p25 | Nonsynonymous change, type 2 diabetes |
| A1166C (V41, 5186) | AGTR1 (MIM 106165) | 3q21-25 | Hypertension |
| 4: | |||
| Gly460Trp (V45, 4961) | ADD1(MIM 102680) | 4p16.3 | Hypertension |
| G−455A (V58, 1800790)a | FGB (MIM 134830) | 4q28 | Progression of atherosclerosis |
| 5: | |||
| Arg16Gly (V49, 1042713) | ADRB2 (MIM 109690) | 5q32-34 | Asthma |
| Gln27Glu (V50, 1042714) | ADRB2 (MIM 109690) | 5q32-34 | Obesity |
| G873A (V59, 1062535)a | ITGA2 (MIM 192974) | 5q23-31 | Glycoprotein Ia/IIa surface expression |
| 6: | |||
| C93T (V4, 1652503) | LPA (MIM 152200) | 6q27 | Atherosclerosis |
| Thr26Asn (V32, 1041981) | LTA (MIM 153440) | 6p21.3 | Myocardial infarction |
| Thr26Asn (V68, 1041981) | TNFb (MIM 153440) | 6p21.3 | Myocardial infarction |
| G−376A (V64, 1800750) | TNF (MIM 191160) | 6p21.3 | Malaria |
| G−308A (V65, 1800629) | TNF (MIM 191160) | 6p21.3 | Asthma |
| G−244A (V66, 673)a | TNF (MIM 191160) | 6p21.3 | |
| G−238A (V67, 361525)a | TNF (MIM 191160) | 6p21.3 | Protective against type 2 diabetes |
| G121A (V5, 1800769)a | LPA (MIM 152200) | 6q27 | |
| 7: | |||
| A−922G (V37, 1800779) | NOS3 (MIM 163729) | 7q36 | |
| C−690T (V38, 3918226) | NOS3 (MIM 163729) | 7q36 | |
| Glu298Asp (V39, 1799983) | NOS3 (MIM 163729) | 7q36 | Hypertension, Alzheimer disease |
| 5G(−675)4G (V56, 1799768) | PAI1 (MIM 173360) | 7q21.3-22 | Coronary artery disease |
| Met55Leu (V25, 3202100) | PON1 (MIM 168820) | 7q21.3 | Cardiovascular disease |
| Gln192Arg (V26, 662) | PON1 (MIM 168820) | 7q21.3 | Coronary artery disease |
| Ser311Cys (V27, 7493) | PON2 (MIM 602447) | 7q21.3 | Coronary artery disease |
| G11053T (V57, 7242)a | PAI1 (MIM 173360) | 7q21.3-22 | |
| 8: | |||
| Trp64Arg (V18, 4994) | ADRB3 (MIM 109691) | 8p12-11.2 | Type 2 diabetes in some populations |
| T−93G (V21, 1800590) | LPL (MIM 238600) | 8p22 | Combined hyperlipidemia |
| Asp9Asn (V22, 1801177) | LPL (MIM 238600) | 8p22 | Combined hyperlipidemia |
| Asn291Ser (V23, 268) | LPL (MIM 238600) | 8p22 | Combined hyperlipidemia |
| Ser447term (V24, 328) | LPL (MIM 238600) | 8p22 | Type 1 hyperlipidemia |
| 9: | |||
| Thr347Ser (V6, 675) | APOA4 (MIM 107690) | 11q23 | |
| Gln360His (V7, 5110) | APOA4 (MIM 107690) | 11q23 | The metabolism of apolipoprotein B |
| C−641A (V10, 2542052) | APOC3 (MIM 107720) | 11q23 | |
| C−482T (V11, 2854117) | APOC3 (MIM 107720) | 11q23 | Increased plasma triglyceride levels |
| T−455C (V12, 2854116) | APOC3 (MIM 107720) | 11q23 | Increased plasma triglyceride levels |
| C1100T (V13, 4520) | APOC3 (MIM 107720) | 11q23 | Increased plasma triglyceride levels |
| C3175G (V14, 5128) | APOC3 (MIM 107720) | 11q23 | Increased plasma triglyceride levels |
| T3206G (V15, 4225) | APOC3 (MIM 107720) | 11q23 | |
| 5A(−1171) 6A (V51, 3025058)a | MMP3 (MIM 185250) | 11q23 | Coronary heart disease |
| G20210A (V52, 1799963)a | F2 (MIM 176930) | 11p11-q12 | Hyperprothrombinemia |
| 10: | |||
| Trp493Arg (V46, 5742912) | SCNN1A (MIM 600228) | 12p13 | Nonsynonymous change |
| Thr663Ala (V47, 2228576) | SCNN1A (MIM 600228) | 12p13 | Nonsynonymous change |
| C825T (V48, 5443) | GNB3 (MIM 139130) | 12p13 | Hypertension |
| 11: | |||
| −323 10-bp Ins/Del (V54, 5742910) | F7 (MIM 227500) | 13q34 | Hypertension |
| Arg353Gln (V55, 6046) | F7 (MIM 227500) | 13q34 | Myocardial infarction |
| 12: | |||
| C−480T (V20, 1800588) | LIPC (MIM 151670) | 15q21-23 | Regulation of plasma lipids |
| 13: | |||
| C−631A (V29, 1800776) | CETP (MIM 118470) | 16q21 | |
| Ile405Val (V31, 5882) | CETP (MIM 118470) | 16q21 | Plasma high-density lipoprotein cholesterol level |
| Asp442Gly (V33, 2303790) | CETP (MIM 118470) | 16q21 | Cholesteryl ester transfer protein deficiency |
| G+1A (V34, 5742907) | CETP (MIM 118470) | 16q21 | Cholesteryl ester transfer protein deficiency |
| C−629A (V30, 1800775)a | CETP (MIM 118470) | 16q21 | |
| 14: | |||
| Alu element Ins/Del (V40, 1799752) | ACE (or DCP1) (MIM 106180) | 17q23 | Myocardial infarction |
| Leu33Pro (V60) | ITGB3 (MIM 173470) | 17q21.32 | Coronary heart disease |
| 15: | |||
| Cys112Arg (V16, 429358) | APOE (MIM 107741) | 19q13.2 | Hyperlipoproteinemia |
| Arg158Cys (V17, 7412) | APOE (MIM 107741) | 19q13.2 | Hyperlipoproteinemia |
| Gly241Arg (V63, 1799969) | ICAM1 (MIM 147840) | 19p13.3-13.21 | |
| NcoI+/− (V28, 5742911) | LDLR (MIM 606945) | 19p13.2 | Cholesterol homeostasis |
| 16: | |||
| Ile278Thr (V35, 5742905) | CBS (MIM 236200) | 21q22.3 | Homocystinaria |
Note.— A list of references regarding the SNPs in this table can be downloaded from the Research at Brigham and Women's Hospital download site.
a
Locus was not used in data analysis because of the problem of “heavy missing,” in the sense that at least 21% of the 136 individual genotypes are imcomplete at this locus.