Table 1.
Results of the replication study of the most significantly associated SNPs, performed in an HLA-unmatched, independent sample set comprising 554 T1D patients and 841 healthy white blood donors of southern European origin, using pre-designed Taqman SNP Genotyping
SNP | Coordinate | Alleles 1/2 | Allele 1 Frequency (%) | p value | OR (95% CI) | |
---|---|---|---|---|---|---|
Cases | Controls | |||||
rs10946990* | 29504625 | C/T | 25 | 26 | ns | - |
rs2284165* | 30268034 | G/C | 21 | 18 | ns | - |
rs2844650* | 31010512 | A/G | 7 | 6 | ns | - |
rs419434† | 33094727 | A/G | 18 | 10 | 1×10−8 | 1.93 (1.52–2.44) |
rs2294472 | 33207188 | C/T | 45 | 47 | ns | - |
rs986522* | 33243940 | C/G | 54 | 51 | ns | - |
Assays (Applied Biosystems, Foster City, CA). Allele frequencies were compared in 2 × 2 contingency tables using Fisher’s exact test with EPI-INFO v.6.0 (Center for Disease Control, Atlanta, GA).
Genotyping was interrupted after analyzing 190 patients vs. 190 controls, because allele frequency did not differ between the two groups.
In complete LD (r2=1) with rs423209.