Table 1.
Frequency of the A3669G (rs6198) polymorphism in nondiseased Caucasian donors and DBA patients
| Normal donors | DBA patients | |
|---|---|---|
| rs6198 | All | |
| Genotype | ||
| A/A | 176 (72) | 33 (57) |
| A/G | 65 (26) | 21 (36) |
| G/G | 5 (2) | 4 (7) |
| A/G + G/G | 70 (28) | 25 (43) |
| Total | 246 | 58 |
| P vs ND | n.a. | .03 |
| Allele frequency | ||
| A | 417 (85) | 87 (75) |
| G | 75 (15) | 29 (25) |
| P | n.a. | .02 |
Values are n (%) unless otherwise specified.
DBA: DNA was prepared from mononuclear cells collected from 58 DBA patients at the time of their routine visit according to protocols approved by the University of Turin, Turin, Italy. Nondiseased donors: DNA from 246 anonymous nondiseased Caucasian donors was obtained from the Department of Genetics and Genomic Sciences of the Mount Sinai School of Medicine.14 All the samples were provided for this study as de-identified material and analyzed blindly for A3669G (rs6198). In the case of 44 DBA patients, the frequency of the SNP was detected by genomic PCR amplification followed by direct sequencing.8 All the DBA patients and the nondiseased donors were also genotyped by restriction fragment length polymorphism analyses using previously published amplification primers5 and SwaI. Genotype distributions and allele frequencies were analyzed according to the Fisher exact test and χ2, respectively.
ND indicates nondiseased donors; and n.a., not applicable.