Table 3. Linear regression analysis between tSNPs and HapMap lymphoblastoid cell line expression levels of MAPKAPK2, IL-10, IL-20, FCAMR and C1orf116.
Gene | Significant tSNP | Location | Disease Associated allele* | Effect on Expression level | Linear regression p-value‡ | |
MAPKAPK2 (NM_004759) † | rs4129024 | Intron 1 | G | Decreased | 0.003 | |
rs4311892 | 3.94 kbdownstream | G | No effect | 0.193 | ||
MAPKAPK2 (NM_032960) † | rs4129024 | Intron 1 | G | No effect | 0.066 | |
rs4311892 | 3.94 kbdownstream | G | No effect | 0.055 | ||
IL-10 | rs1878672 | Intron 3 | G | Decreased | 0.022 | |
rs1800896 | −1082 bp | A | Decreased | 0.011 | ||
IL-20 | rs1400986 | −468 bp | T | No effect | 0.404 | |
FCAMR | rs10863962 | 2.24 kbdownstream | T | Increased | 0.009 | |
rs2353550 | −3.34 kbupstream | G | Increased | 0.005 | ||
rs2842711 | −15.19 kbupstream | T | No effect | 0.655 | ||
C1orf116 | rs2842721 | 3.66 kbdownstream | A | No effect | 0.187 | |
rs12138969 | 705 bpdownstream | A | No effect | 0.609 |
Allele with increased frequency in children with JIA compared with controls. This corresponds to the minor alleles for all except rs4129024 where the frequency of major allele G is higher in cases than controls.
Two transcript encoding two different isoforms have been found for this gene. They code for the same number of exons but differ at the 3′UTR region.
The linear regression model was used to evaluate the association between log2-transformed expression values and genotypes of tSNPs. Associations reaching nominal significance (p<0.05) are shown in bold. One SNP reached the Bonferroni corrected threshold for 12 tests of 0.0042 = 0.05/12.