Figure 1.
Case-control samples available in this work.
(1) These individuals were typed with the Illumina Sentrix HumanHap300 beadchip containing 317,319 SNPs among which 291,872 satisfied the quality control (QC) criteria (Trégouët et al. (2009) Blood 113: 5298–5303). (2) These individuals were typed with the Illumina 610-Quad and Illumina 660W-Quad beadchips. Among the 551,141 SNPs common to both assays, 491,258 SNPs satisfied the QC criteria (Germain et al (2011) Plos One 6: e25581). (a) 812 VT patients of the MARTHA study were part of the GWAS(2) VT sample. (b) The FV Leiden and FII G20210A mutations were genotyped in the GWAS patients as part of the study design where patients homozygous for these mutations were excluded.
Figure 2.
Pairwise linkage disequilibrium r2 between genotyped SNPs at the 11p11.2 locus over the 47,373,425–48,064,194 bp region in the second GWAS study (Germain et al. Plos One 2011).
Table 1.
Genome-wide significant association (p<1.×10−8) observed at the 11p11.2 locus.
Table 2.
Association of haplotypes derived from rs2856650, rs3740689 and rs10769258 with VT risk in two GWAS.
Table 3.
Association of MYPBC3 rs2856656 and CELF1 rs60206633 with VT in the FARIVE study.
Table 4.
Genotype distribution of the MYPBC3 rs2856656 according to VT status and carrier-ship of F5/F2 mutations in the MARTHA and FARIVE studies.
Figure 3.
Box-Plot representation of the imputed dose at rs1799963 (FII G20210A) according to measured genotypes in a sample of 1,961 VT cases.
The imputed dose in the 419 VT cases of the first GWAS is shown in blue while results obtained in the 1,542 VT part of the second GWAS are shown in red.
Figure 4.
Pairwise linkage disequilibrium r2 between genotyped SNPs mapping from F2 to PTPRJ genes at the 11p11.2 locus in a sample of 1,542 VT cases.
Table 5.
Association of the imputed rs2856656 with VT risk in two GWAS datasets.
Figure 5.
Box-Plot representation of the imputation quality (r2) according to the minor allele frequency of the SNPs inferred from 1000G 2010-08 release.
Box-plot derived from the imputation analysis of the largest GWAS (2).