Table 2.
HWE in the study population and genotype distribution in cases (i.e., patients suffering from osteoporosis as defined by BMD T-score ≤ −2.5) and controls (i.e., patients having a BMD T-score > 2.5) for each single P2X4 SNP
| Cases | Controls | MAF | HWE p value | |
|---|---|---|---|---|
| Ser242Gly (rs25644) | – | – | 0.105 | 1 |
| AA (%) | 224 (80) | 500 (80) | – | – |
| AG (%) | 53 (19) | 119 (19) | – | – |
| GG (%) | 3 (1) | 1 | – | – |
| χ2 | OR = 0.99 (95 % CI, 0.7165–1.37), χ2 = 0.003, p = 0.956 | – | – | |
| Tyr315Cys (rs28360472) | – | – | 0.013 | 1 |
| AA (%) | 270 (95) | 622 (98) | – | – |
| AG (%) | 13 (5) | 11 (2) | – | – |
| GG | – | – | – | – |
| χ2 | OR = 2.68 (95 % CI, 1.194–6.024), χ2 = 6.169, p = 0.013 | – | – |
OR odds ratio; CI confidence interval; MAF minor allele frequency; HWE Hardy–Weinberg equilibrium