Distribution of SMARC4-LDLR haplotypes (on the basis of rs1122608, rs2228671, and rs688 polymorphisms) in the whole population and in subjects with or without CAD and associations with FVIII:c, total and LDL cholesterol levels, and total to HDL cholesterol ratio
| rs1122608 . | rs2228671 . | rs688 . | Haplotype frequency, % . | P* . | FVIII, IU/dL . | P* . | Total cholesterol, mM . | P* . | LDL cholesterol, mM . | P* . | Total cholesterol/HDL ratio . | P* . | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Whole population . | CAD-free subjects . | CAD patients . | ||||||||||||
| G | C | C | 35.9 | 36.0 | 35.8 | .002 | 162 ± 74 | .025 | 5.83 ± 1.75 | .001 | 3.79 ± 1.59 | .017 | 4.89 ± 1.62 | .039 |
| G | C | T§ | 35.2 | 31.6 | 36.6† | 166 ± 56 | 5.77 ± 1.38 | 3.74 ± 1.27 | 4.92 ± 2.07 | |||||
| T‡ | C | C | 15.5 | 18.5 | 14.1† | 161 ± 47 | 5.67 ± 1.18 | 3.69 ± 1.02 | 4.66 ± 1.28 | |||||
| T‡ | T‡§ | T§ | 4.8 | 6.7 | 4.2 | 166 ± 45 | 5.76 ± 1.10 | 3.78 ± 1.03 | 4.56 ± 1.37 | |||||
| T‡ | T‡§ | C | 3.0 | 3.5 | 2.8 | 176 ± 50 | 5.31 ± 1.07 | 3.39 ± 1.05 | 4.76 ± 1.47 | |||||
| rs1122608 . | rs2228671 . | rs688 . | Haplotype frequency, % . | P* . | FVIII, IU/dL . | P* . | Total cholesterol, mM . | P* . | LDL cholesterol, mM . | P* . | Total cholesterol/HDL ratio . | P* . | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Whole population . | CAD-free subjects . | CAD patients . | ||||||||||||
| G | C | C | 35.9 | 36.0 | 35.8 | .002 | 162 ± 74 | .025 | 5.83 ± 1.75 | .001 | 3.79 ± 1.59 | .017 | 4.89 ± 1.62 | .039 |
| G | C | T§ | 35.2 | 31.6 | 36.6† | 166 ± 56 | 5.77 ± 1.38 | 3.74 ± 1.27 | 4.92 ± 2.07 | |||||
| T‡ | C | C | 15.5 | 18.5 | 14.1† | 161 ± 47 | 5.67 ± 1.18 | 3.69 ± 1.02 | 4.66 ± 1.28 | |||||
| T‡ | T‡§ | T§ | 4.8 | 6.7 | 4.2 | 166 ± 45 | 5.76 ± 1.10 | 3.78 ± 1.03 | 4.56 ± 1.37 | |||||
| T‡ | T‡§ | C | 3.0 | 3.5 | 2.8 | 176 ± 50 | 5.31 ± 1.07 | 3.39 ± 1.05 | 4.76 ± 1.47 | |||||
Haplotypes present in < 10 subjects were excluded from the analysis. Data about total and LDL-cholesterol were analyzed in the subgroup of patients without lipid-lowering therapies (n = 693).
P for haplotype effect in a sex- and age-adjusted generalized linear model regression of trait.
Subjects with G-C-T haplotype carried a greater risk of CAD than subjects with T-C-C haplotype (OR = 1.59; 95% CI, 1.17-2.18; P = .003 in a sex- and age-adjusted model and P = .021 after 1000 permutations by the Monte Carlo method).
Alleles associated with a favorable lipid profile.
Alleles associated with high FVIII:c levels at SNP analysis.