Page 35 - GPD-4-3
P. 35

Gene & Protein in Disease                                        TNFA polymorphism and risk of endometriosis




            Table 5. Overall association of genetic variants of tumor necrosis factor‑alpha genetic variants (‑238 G>A, ‑308 G>A, ‑857 C>T,
            ‑863 C>A, and ‑1031 T>C)
            Variant  Model    #              Test of association         Test of heterogeneity  Publication bias
                                  OR     95% CI   P‑value  Adjusted P value  Model  P‑value  I 2  (P‑value)
            -238 G>A  Allele  5   0.97  0.6921 – 1.3501  0.84212  1    Fixed   0.3151  0.156      0.9149
                     Recessive  3  1.36  0.5039 – 3.6581  0.545358  1  Fixed   0.4822  0          0.2062
                     Dominant  5  0.91  0.6201 – 1.3314  0.622949  1   Fixed   0.1576  0.3954     0.5227
                     OD       5   0.82  0.4591 – 1.4758  0.513515  1   Random  0.099  0.4875      0.3856
                     HR vs. HW  3  1.1  0.3945 – 3.0785  0.852951  1   Fixed   0.3748  0          0.1419
                     HR vs. HT  3  2.04  0.7079 – 5.8749  0.186825  1  Fixed   0.3637  0.0114     0.3543
                     HT vs. HW  5  0.82  0.4488 – 1.4821  0.503555  1  Random  0.0922  0.4989     0.3543
            -308 G>A  Allele  6   1.19  0.7366 – 1.9305  0.473908  1   Random  0.016  0.6412      0.3388
                     Recessive  3  2.48  0.9052 – 6.8275  0.077269  0.54  Fixed  0.1647  0.4456   0.2336
                     Dominant  6  1.15  0.7221 – 1.8429  0.55006  1    Random  0.0441  0.5611     0.3473
                     OD       6   1.1  0.8167 – 1.4906  0.521524  1    Fixed   0.1606  0.3689     0.3894
                     HR vs. HW  3  2.5  0.9073 – 6.8940  0.076407  0.53  Fixed  0.121  0.5266     0.2617
                     HR vs. HT  3  2.5  0.8680 – 7.1934  0.089574  0.627  Fixed  0.393  0         0.2463
                     HT vs. HW  6  1.15  0.8485 – 1.5514  0.371987  1  Fixed   0.1203  0.4273     0.3601
            -857 C>T  Allele  4   0.95  0.7817 – 1.1643  0.643092  1   Fixed   0.7773  0          0.5969
                     Recessive  4  0.66  0.3512 – 1.2494  0.203301  1  Fixed   0.8408  0          0.0295
                     Dominant  4  1   0.7925 – 1.2529  0.975723  1     Fixed   0.8083  0          0.8615
                     OD       4   1.06  0.8379 – 1.3432  0.623292  1   Fixed   0.8588  0          0.8101
                     Hr vs. HW  4  0.67  0.3550 – 1.2727  0.222573  1  Fixed   0.8286  0          0.0544
                     HR vs. HT  4  0.64  0.3318 – 1.2337  0.182497  1  Fixed   0.8704  0          0.0041
                     HT vs. HW  4  1.04  0.8219 – 1.3216  0.732768  1  Fixed   0.8457  0          0.9072
            -863 C>A  Allele  4   0.94  0.6769 – 1.3069  0.715021  1   Random  0.0553  0.6047     0.1949
                     Recessive  4  1.198  0.6404 – 2.2410  0.571906  1  Fixed  0.5876  0          0.8224
                     Dominant  4  0.91  0.6230 – 1.3213  0.611938  1   Random  0.0572  0.6007     0.1354
                     OD       4   0.93  0.7356 – 1.1874  0.579667  1   Fixed   0.1069  0.508      0.0698
                     HR vs. HW  4  1.17  0.6235 – 2.2009  0.622903  1  Fixed   0.4822  0          0.8134
                     HR vs. HT  4  1.31  0.6760 – 2.5202  0.427379  1  Fixed   0.823   0          0.9952
                     HT vs. HW  4  0.89  0.6129 – 1.2817  0.521249  1  Random  0.0844  0.5481     0.0943
            -1031 T>C  Allele  7  0.94  0.6628 – 1.3431  0.746865  1   Random    0    0.8146      0.5127
                     Recessive  7  1.57  0.7121 – 3.4829  0.262056  1  Random  0.0524  0.5186     0.5923
                     Dominant  7  0.84  0.5998 – 1.1828  0.321831  1   Random  0.0014  0.7235     0.3698
                     OD       7   0.81  0.6871 – 0.9634  0.016734  0.117  Fixed  0.1808  0.3238   0.084
                     HR vs. HW  7  1.44  0.6079 – 3.3886  0.409659  1  Random  0.0267  0.5797     0.5296
                     HR vs. HT  7  1.93  1.2052 – 3.0958  0.006225  0.043  Fixed  0.1559  0.3569  0.7621
                     HT vs. HW  7  0.78  0.6005 – 1.0174  0.067043  0.46  Random  0.0591  0.5053  0.1702
            Abbreviations: CI: Confidence interval; HR: Homologous recombination; HT: Heterozygote; HW: Homozygous wild; OD: Overdominant; OR: Odds
            ratio; vs: Versus.


            3.1.3. -850 C>T                                    studies exhibited significant deviations, rendering them
                                                               unsuitable for further analysis (Table 3). Maintaining HWE
            For the third TNFA upstream variant, -850 C>T, only two   is crucial in genetic association studies, as it ensures that the
            studies  were identified. 29,31  Upon testing  for HWE,  both   observed genotype frequencies in a population align with


            Volume 4 Issue 3 (2025)                         9                               doi: 10.36922/gpd.5204
   30   31   32   33   34   35   36   37   38   39   40