Table 1.
Variants observed on contrasting haplotypes identified after Sanger resequencing of the 3.000 bp genomic fragment defined by rs168748 to rs4968000.
| Haplotype rs168748-rs2303153-rs4968000 | Associated with Disease Manifestation: | rs168748 * | rs250570 | rs62029389 | rs62029390 | rs62029391 | rs61379932 | rs2303153 * | rs4968000 * | rs3743966 |
|---|---|---|---|---|---|---|---|---|---|---|
| CCA | severe | C | C | G | G | G | G | C | A | T |
| TCA | severe | T | G | G | G | G | G | C | A | T |
| TGC | mild | T | G | A | T | A | A | G | C | A |
| TGA | mild | T | C | A | T | A | A | G | A | A |
| Different when comparing CCA and TCA with TGC and TGA? | no | no | yes | yes | yes | yes | yes | no | yes |
* rs168748-rs2303153-rs4968000 were used to map the fragment associated with disease severity and define the contrasting haplotypes CCA and TCA (associated with severe disease) as well as TGC and TGA (associated with mild disease). rs2303153 is not in LD with the neighboring markers rs168748 located 2 kb on the 5′ side (r² = 0.086; D’ = 0.341) and rs4968000 located 1 kb on the 3′ side (r² = 0.070; D’ = 0.277).