Table 3.
Linkage disequilibrium among FCGR2A*27W, FCGR2C*ORF, 2B.4, and FCGR3A*158V determines major observed haplotypes
| FCGR2A-27W | FCGR2C-ORF, rs759550223 | FCGR2C-ncORF, rs76277413 | FCGR2B-2B.4, rs148754834; rs34701572 | FCGR3A-158V | Haplotype frequency | |
|---|---|---|---|---|---|---|
| Controls | Cases | |||||
| Q | STOP | WT | no 2B.4 | F | 0.6390 | 0.5580 |
| Q | STOP | WT | no 2B.4 | V | 0.1880 | 0.2060 |
| Q | STOP | WT | 2B.4 | F | 0.0319 | 0.0150 |
| Q | STOP | WT | 2B.4 | V | NA | 2.2e-07 |
| Q | ORF | WT | no 2B.4 | F | 5.9e-10 | 0.0055 |
| Q | ORF | splice* | no 2B.4 | V | 0.0103 | 0.0172 |
| Q | ORF | WT | no 2B.4 | V | 0.0036 | 0.0016 |
| Q | ORF | WT | 2B.4 | F | 3.5e-09 | NA |
| Q | ORF | WT | 2B.4 | V | 0.0102 | 0.0174 |
| W | STOP | WT | no 2B.4 | F | 0.0036 | 0.0015 |
| W | STOP | WT | no 2B.4 | V | 0.0036 | 0.0102 |
| W | STOP | WT | 2B.4 | F | 0.0034 | 0.0056 |
| W | STOP | WT | 2B.4 | V | NA | 0.0036 |
| W | ORF | WT | no 2B.4 | F | NA | 0.0042 |
| W | ORF | WT | no 2B.4 | V | 0.0317 | 0.0544 |
| W | ORF | WT | 2B.4 | V | 0.0743 | 0.0997 |
Data shown for 146 control individuals and 145 patients with newly diagnosed ITP (TIKI) who showed no CNV in CNR1 or CNR2. Bold text indicates the most common haplotypes. Frequencies of haplotypes are derived from posterior probabilities using observed alleles using the haplo.stats package in R. 2B.4 promoter constitutes the observation of a A at position −120 and C at position −386. The 2B.4 haplotype is solely observed as a promoter polymorphism of FCGR2B and SNPs are only indicated for this variant.
NA, haplotype not observed.