Table 1.

Significant associations between plasma kallikrein values and SNPs in the kallikrein locus in the CAPS study

MeasureSNPLocationPosition on chr 19 (build 36)CAPS1 P*CAPS2 PCAPS1 + CAPS2 PMean trait value, ng/mL (95% CI)
Common homozygoteHeterozygoteRare homozygote
fPSA, ng/mLrs2271094KLK3 exon 256,051,309<0.00010.002<0.00010.62 (0.081-2.1)0.69 (0.086-2.5)0.98 (0.094-3.6)
rs11084039KLK2 promoter56,068,031<0.0001NDND0.075 (0.069-2.9)0.075 (0.10-2.7)0.96 (0.13-3.5)
rs11670728KLK2 promoter56,068,3010.00010.024<0.00010.66 (0.084-2.3)0.67 (0.085-2.5)1.0 (0.092-3.9)
rs3760728KLK2 promoter56,066,4040.00020.17<0.00010.66 (0.083-2.3)0.68 (0.085-2.5)1.0 (0.094-3.8)
rs6998KLK3 exon 556,055,4730.00030.4<0.00010.66 (0.083-2.3)0.74 (0.084-2.6)0.87 (0.094-3.5)
tPSA, ng/mLrs2271094KLK3 exon 256,051,3090.00030.031<0.00012.6 (0.20-10)2.8 (0.21-12)4.00 (2.4-16)
%fPSArs61752561KLK3 exon 356,053,1940.00020.0001<0.000132 (8.1-56)36 (9.5-63)48 (27-69)
hK2, ng/mLrs198977KLK2 exon 556,073,589<0.0001<0.0001<0.00010.069 (0.013-0.21)0.050 (0.0086-0.14)0.032 (0.0016-0.071)
rs198978KLK2 exon 556,074,884<0.0001<0.0001<0.00010.068 (0.014-0.20)0.062 (0.0091-0.18)0.036 (0.0023-0.11)
rs198972KLK2 exon 356,071,705<0.0001<0.0001<0.00010.065 (0.012-0.20)0.060 (0.0078-0.19)0.049 (0.0024-0.14)
SNP11KLK2 exon 556,075,012<0.0001<0.0001<0.00010.062 (0.0096-0.20)0.060 (0.0038-0.19)0.014 (0.0043-0.033)
rs1654553KLK4 intron 456,102,928<0.0001<0.0001<0.00010.065 (0.012-0.20)0.062 (0.0086-0.21)0.057 (0.0052-0.19)
rs17526278KLK3 promoter56,049,6990.0005NDND0.068 (0.0097-0.22)0.056 (0.0047-0.22)0.038 (0.0050-0.15)

NOTE: Trait values (ng/mL) are given for CAPS1 + CAPS2 when available. Otherwise, trait values are for CAPS1.

Abbreviation: ND, no data.

  • *P < 0.00048 based on permutation testing; P < 0.00012 based on the Bonferroni correction.

  • P < 0.05.