Table 2. SNPs associated with C3 and C4 levels from two-stage GWAS study in Chinese population.
SNPs | Chr (Position)a | Genes | Gene regions | Minor Allele/Major Allele | First Stage (N = 1999) | Second Stage (N = 1496) | Combined (N = 3495) | |||||||||
MAF | Mean levels (g/L) | P valuec | MAF | Mean levels (g/L) | P valuec | β(SE)c | P valuec | |||||||||
aab | Aa | AA | aa | Aa | AA | |||||||||||
C3 | ||||||||||||||||
rs3753394 | 1(194887540) | CFH | promoter | C/T | 0.43 | 1.16 | 1.13 | 1.08 | 5.79×10−13 | 0.44 | 1.31 | 1.26 | 1.20 | 1.08×10−3 | −0.05(0.01) | 7.33×10−11 |
rs3745567 | 19 (6641771) | C3 | intron | T/C | 0.06 | 0.93 | 1.06 | 1.13 | 9.32×10−9 | 0.07 | 1.07 | 1.16 | 1.26 | 3.58×10−4 | 0.09(0.01) | 1.83×10−9 |
C4d | ||||||||||||||||
rs1052693 | 6 (30984131) | HLA-A | 3′ | G/A | 0.36 | 0.28 | 0.31 | 0.34 | 3.26×10−10 | 0.34 | 0.29 | 0.31 | 0.35 | 7.48×10−22 | 0.10(0.01) | 3.01×10−48 |
rs11575839 | 6 (31665770) | HLA-C | 5′ | A/G | 0.05 | 0.47 | 0.40 | 0.31 | 9.70×10−35 | 0.06 | 0.41 | 0.41 | 0.32 | 2.55×10−20 | −0.23(0.01) | 1.22×10−54 |
rs2075799 | 6 (31886508) | C4 | 5′ | T/C | 0.20 | 0.40 | 0.36 | 0.30 | 1.08×10−49 | 0.20 | 0.47 | 0.36 | 0.30 | 2.53×10−48 | −0.17(0.01) | 5.62×10−97 |
rs2857009 | 6 (32127724) | C4 | 3′ | G/C | 0.20 | 0.28 | 0.31 | 0.33 | 3.46×10−24 | 0.21 | 0.28 | 0.31 | 0.34 | 3.04×10−10 | 0.08(0.01) | 1.43×10−22 |
rs2071278 | 6 (32273422) | HLA-DRA | 5′ | G/A | 0.27 | 0.38 | 0.34 | 0.30 | 3.48×10−29 | 0.28 | 0.41 | 0.35 | 0.30 | 7.86×10−39 | −0.13(0.01) | 4.25×10−72 |
rs3763317 | 6 (32484766) | HLA-DRB | 5′ | C/T | 0.37 | 0.28 | 0.31 | 0.35 | 1.88×10−17 | 0.38 | 0.28 | 0.32 | 0.38 | 2.10×10−32 | 0.12(0.01) | 9.21×10−66 |
rs9276606 | 6 (32844673) | HLA-DQB | 3′ | T/A | 0.15 | 0.39 | 0.34 | 0.31 | 2.33×10−14 | 0.15 | 0.39 | 0.35 | 0.32 | 2.90×10−10 | −0.09(0.01) | 3.19×10−22 |
rs241428 | 6 (32912048) | HLA-DQB | 3′ | G/T | 0.08 | 0.22 | 0.26 | 0.33 | 3.64×10−12 | 0.09 | 0.18 | 0.27 | 0.34 | 6.99×10−39 | 0.23(0.01) | 9.12×10−83 |
. Genomic position is based on NCBI build 36.
. aa indicates serum complement levels for homozygous carriers of minor alleles, Aa indicates for heterozygous carriers, and AA indicates for homozygous carriers of major alleles.
. P values andβ-coefficient are based on multi-linear regression analysis for an addictive effect, and adjusted for age, smoking, and logBMI. The combined P s are calculated based on the regression model, adjusting for the covariates and stage information.
. The presented C4 levels were back-transformed.