By the end of 2009, 44 polymorphisms in 30 genes that were considered as candidate risk factors for one of the primary or secondary end points had been genotyped. The associations between each polymorphism and the main end points of the 3C study (dementia, stroke and coronary heart disease) were systematically assessed by computing relative risks with their 95% confidence intervals, adjusting on age, gender, and center. The genotyped polymorphisms are listed below.
Angiotensine I (AGT): M235T |
Interleukin 1, alpha (IL1A): rs1800587 |
Angiotensin I converting enzyme 1 (peptidyl-dipeptidase A) (ACE) : rs4291 ; rs4343 |
Interleukin 1, beta (IL1B): rs1143634 |
Apolipoprotein E (APOE): 334 T/C and 472 C/T (which define APOE e2, e3, e4 alleles) ; -219 G/T (promoter) |
Interleukin 33 (IL33): rs7044343 ; rs11792633 ; rs1157505 |
Apolipoprotein A-V (APOA5) : rs662799 |
Methylenetetrahydrofolate-reductase-(MTHFR/5,10-): rs1801133 ; rs1801131 |
Arachidonate-5-lipoxygenase-activating-protein (ALOX5AP): rs10507391 |
Methyltetrahydrofolate-homocysteine methyltransferase (MTR5): rs1805087 |
Calcium homeostasis modulator 1 (CALHM1) : rs2986017 (P86L) |
Methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR5) : rs1801394 |
Chemokine (C-X3-C motif) ligand 1 : rs170364 ; rs614230 |
Myostatin (MSTN): rs7570532 ; rs3762546 |
Chemokine (C-X3-C motif) receptor 1: rs11129820 ; rs3732378 (Val249Ile) – rs3732379 (Thr280Met) |
Phosphodiesterase 4D (PDE4D): rs918592 |
Cholesteryl ester transfer protein (CETP): rs1800775 ; rs5882 |
Prion protein PrP (PRP129): M129V |
Coagulation factor II (F2): rs1799963 |
S100 calcium binding protein B (S100B): rs2300403 |
Coagulation factor V (F5): rs6025 |
Solute carrier family 2 (SCLGluA9 or SLC2A9): rs6855911 ; rs7442295 |
Complement factor H (CFH): rs1061170 (Y402H) |
Transcobalamin II, macrocytic anemia (TCN2): rs1801198 |
Estrogen-receptor-1 (ESR1): rs2234693 ; rs9340799 |
Transforming growth factor, beta 1 (TGFB1): rs1800471 |
Estrogen-receptor-2 (ESR2): rs1256049 ; rs4986938 ; rs1271572 |
Tryptophan hydroxylase 1 (TPH1 -intron7) : rs1800532 |
Eukaryotic-translation-initiation-factor2-alpha-kinase2 (EIF2AK2): rs2254958 |
Vitamin-K-epoxide-reductase-complex1 (VKORC1): rs2359612 |