The Three-City Study


Unpublished Genetic Data

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