Table 5. Comparison of the genotype frequencies between CNV vs. No CNV group.
| Cohort 1 | Cohort 2 | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| SNPs | Genotype | CNV-Genotype frec (%) Genotype cases (n) | CNV+ Genotype frec (%) Genotype cases (n) | Genot. Uncor. p-value | CNV-Genotype frec (%) Genotype cases (n) | CNV+ Genotype frec (%) Genotype cases (n) | Genot. Uncor. p-value | CNV-Genotype frec (%) Genotype cases (n) | CNV+ Genotype frec (%) Genotype cases (n) | Genotype Uncorrected p-value | Genotype OR (95% CI) |
| rs11873429 | AA/AC/CC | 94.4/4.5/1.1 84/4/1 | 92.3/7.7/0 72/6/0 | 0.33 | 92.9/7.1/0 26/2/0 | 96.4/3.6/0 53/2/0 | 0.35 | 94/5.1/0.9 110/6/1 | 94/6/0 125/8/0 | C; 0.49 | 1.69 (0.4–3.6) |
| rs577948 | AA/AG/GG | 33.3/48.9/17.8 30/44/16 | 25.4/54.9/19.7 18/39/14 | 0.69 | 27.8/52.8/19.4 10/19/7 | 37.8/35.6/26.6 17/16/12 | 0.28 | 31.7/50/18.3 40/63/23 | 30.2/47.4/22.4 35/55/26 | C; 0.28 | 01.34 (0.6–2.9) |
| rs669676 | AA/AG/GG | 26.4/44.7/28.9 32/54/35 | 31.9/45/23.1 29/41/21 | 0.40 | 26.2/54.8/19.1 11/23/8 | 33.9/40.7/25.4 20/24/15 | 0.43 | 26.2/47/26.8 43/77/44 | 32.7/43.3/24 49/65/36 | R; 0.69 | 0.9 (0.5–1.5) |
| rs13095226 | CC/CT/TT | 83.6/16.4/0 102/20/0 | 81.5/15.2/3.3 75/14/3 | 0.032 | 77.3/22.7/0 34/10/0 | 70.2/23.9/6 47/16/4 | 0.07 | 81.9/18.1/0 136/30/0 | 76.7/18.9/4.4 122/30/7 | R; 0.0023*0.013 | NA (0.00-NA) |
| rS644242 | AA/AC/CC | 94.9/5.1/0 37/2/0 | 92.6/5.9/1.5 63/14/1 | 0.70 | 86.7/13.3/0 39/6/0 | 92.5/7.5/0 62/5/0 | 0.29 | 90.5/9.5/0 76/8/0 | 86.2/13.1/0.7 125/19/1 | C; 0.51 | NA (0.00-NA) |
| rs634990 | CC/CT/TT | 34.7/43/22.3 42/52/27 | 23.6/57/19.4 22/53/18 | 0.33 | 44.4/33.3/22.2 20/15/10 | 37.3/40.3/22.4 25/27/15 | 0.91 | 37.3/40.4/22.3 62/67/37 | 29.4/50/20.6 47/80/33 | D; 0.28 | 1.26 (0.8–2.1) |
| rs74315511 | CC/CT/TT | 120 | 92 | - | 44 | 66 | - | 164 | 158 | - | - |
| rs8139305 | AA/AG/GG | 120 | 93 | - | 44 | 66 | - | 164 | 159 | - | - |
Chr: Chromosome; Genotype freq: Genotype frequency; OR: Odds ratio; CI: Confidence interval; P-value: value from logistic regression model adjusted by age and gender; P value significance < 0.05. C; Codominant model (XX vs XY vs YY), R; Recessive model (XX-XY vs YY) D; Dominant model (XX vs XY-YY).
* Bonferroni correction p value.