Supplementary Table 1. Classification of Blood Pressure(BP)
Supplementary table 1. Classification of blood pressure(BP)
JNC7 category / SBP mmHg DBP mmHgNormal / <120 and <80
Prehyertension / 120-139 or 80-89
Hypertension
Stage 1
Stage 2 / 140-159 or 90-99
≥160 or ≥100
Source: The Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure.JAMA 2003,289:2560-2571.
Supplementary table 2. Genotype distributions of KLKB1 tag SNPs in hypertension patients and controlsa(1317:639)
Tag SNPs / Alleles / Group / No. of genotypes (frequency) / MAF / Adjusted OR (95%CI; P-Value)b(1/2) / 1/1 / 1/2 / 2/2 / 2 vs 1 / 1/2+2/2 vs 1/1
rs2278542 / C/A / Control
Case / 596(0.92)
1189(0.91) / 42(0.08)
115(0.09) / 0(0.00)
3(0.00) / 0.03
0.05 / 1.47(1.00-2.17;0.048) / 1.47(0.99-2.18,0.055)
rs2304595 / G/A / Control
Case / 260(0.42)
599(0.45) / 301(0.46)
584(0.44) / 78(0.12)
133(0.11) / 0.36
0.33 / 0.82(0.70-0.95;0.010) / 0.78(0.63-0.96;0.021)
rs4253325 / G/A / Control
Case / 328(0.50)
605(0.46) / 257(0.41)
589(0.45) / 53(0.09)
116(0.09) / 0.28
0.31 / 1.18(1.01-1.39,0.039) / 1.30(1.06-1.61;0.012)
rs925453 / C/T / Control
Case / 473(0.73)
961(0.73) / 159(0.26)
320(0.24) / 6(0.01)
30(0.02) / 0.13
0.14 / 1.12(0.91-1.39,0.277) / 1.05(0.83-1.33;0.694)
aHypertension was defined as average systolic BP of ≥150 mmHg, an average diastolic BP ≥95 mmHg, or current treatment for hypertension with antihypertensive medication. Control subjects had systolic BP <120 mmHg and diastolic BP <80 mmHg.
The major allele was always referred to as allele 1 and the minor allele as allele 2.
b OR estimated by logistic regression analysis, adjusted for Gender, age, smoking, drinking, BMI, TC, TG, Cr, HDL_C and Glu.
Supplementary table 3. Association between KLK1 gene haplotypes and essential hypertension(1317:639)
Frequenciesvariables / Haplotype / All / Cases / Controls / OR (95% CI) a / P-Value
Hap1 / AGAC / 0.040 / 0.044 / 0.032 / 1.64(1.54-1.75) / 0.000
Hap2b / CAGC / 0.332 / 0.320 / 0.358 / reference / ——
Hap3 / CGAC / 0.263 / 0.268 / 0.252 / 1.25(1.04-1.49) / 0.016
Hap4 / CGGC / 0.221 / 0.220 / 0.224 / 1.13(0.93-1.37) / 0.207
Hap5 / CGGT / 0.139 / 0.142 / 0.133 / 1.25(0.99-1.56) / 0.057
Hypertension was defined as average systolic BP of ≥150 mmHg, an average diastolic BP ≥95 mmHg, or current treatment for hypertension with antihypertensive medication. Control subjects had systolic BP <120 mmHg and diastolic BP <80 mmHg.
aGender, age, smoking, drinking, BMI, TC, TG, Cr, HDL_C and Glu were adjusted.
b Hap2 (CAGC) was chosen to be the baseline haplotype.
Supplementary Table 4 R2L of 27 remaining SNPs “explained” the 4 tag SNPs
Locus / region / MAF / Locus R2Lrs4253238 / 5’flanking / 0.37 / 0.91
rs1912826 / intron 2 / 0.37 / 0.91
rs1511801 / intron 2 / 0.37 / 0.91
rs1511802 / intron 2 / 0.30 / 0.86
rs2304596 / intron 3 / 0.21 / 0.87
rs4253248 / intron 3 / 0.37 / 0.91
rs4253251 / intron 3 / 0.11 / 0.68
rs4253252 / intron 3 / 0.37 / 0.91
rs3733402 / exon 5 / 0.37 / 0.91
rs4253259 / intron 6 / 0.07 / 0.22
rs4253260 / intron 6 / 0.21 / 0.87
rs4253292 / intron 6 / 0.17 / 0.49
rs6848171 / intron 6 / 0.32 / 0.95
rs4253299 / intron 6 / 0.11 / 0.68
rs4253302 / intron 11 / 0.21 / 0.87
rs4253303 / intron 11 / 0.30 / 0.86
rs4253304 / intron 11 / 0.30 / 0.86
rs4253308 / intron 11 / 0.32 / 0.95
rs4253311 / intron 11 / 0.36 / 0.95
rs4253315 / intron 11 / 0.31 / 0.95
rs2292423 / intron 11 / 0.32 / 0.95
rs4241821 / intron 12 / 0.11 / 0.68
rs3775302 / intron 13 / 0.34 / 0.91
rs4861709 / intron 13 / 0.16 / 1.00
rs4253326 / intron 14 / 0.11 / 0.68
rs4253327 / intron 14 / 0.43 / 0.87
rs3087505 / 3'UTR / 0.09 / 0.53
SNPs are presented in chromosomal order.
R2L was not calculated for SNPs with MAF<0.05
SNPs with R2L <0.85 are indicated in bold.