Statistical analysis of rs7170178 (ANXA2 gene) and rs12885713 (CALM1 gene) variants between PHPT patients and controls_
| Gene: Genotypes of the studied variant | Patients | Controls | Statistical model | OR (95%CI) | p-Value | HWE in control group (p-value) |
|---|---|---|---|---|---|---|
| ANXA2: rs7170178 | ||||||
| AA | 18 | 22 | Additive (AA vs. AG vs. GG) | 0.45 | 0.78 | |
| AG | 29 | 23 | ||||
| GG | 3 | 5 | ||||
| AA | 18 | 22 | Homozygous (GG vs. AA) | 0.73 (0.15-3.49) | 1 | |
| GG | 3 | 5 | ||||
| AA | 18 | 22 | Heterozygous (AG vs. AA) | 1.54 (0.67-3.53) | 0.31 | |
| AG | 29 | 23 | ||||
| AA | 18 | 22 | Dominant (AG+GG vs. AA) | 1.4 (0.62-3.11) | 0.41 | |
| AG+GG | 32 | 28 | ||||
| AA+AG | 47 | 45 | Recessive (GG vs. AA+AG) | 0.57 (0.13-2.55) | 0.71 | |
| GG | 3 | 5 | ||||
| A | 65 | 67 | Allelic (G vs. A) | 1.09 (0.61-1.96) | 0.76 | |
| G | 35 | 33 | ||||
| CALM1: rs12885713 | ||||||
| CC | 20 | 14 | Additive (CC vs. CT vs. TT) | 0.39 | 0.98 | |
| CT | 19 | 25 | ||||
| TT | 11 | 11 | ||||
| CC | 20 | 14 | Homozygous (TT vs. CC) | 0.7 (0.24-2.06) | 0.52 | |
| TT | 11 | 11 | ||||
| CC | 20 | 14 | Heterozygous (CT vs. CC) | 0.53 (0.21-1.32) | 0.17 | |
| CT | 19 | 25 | ||||
| CC | 20 | 14 | Dominant (CT+TT vs. CC) | 0.58 (0.25-1.35) | 0.21 | |
| CT+TT | 30 | 36 | ||||
| CC+CT | 39 | 39 | Recessive (TT vs. CC+CT) | 1 (0.38-2.57) | 1 | |
| TT | 11 | 11 | ||||
| C | 59 | 53 | Allelic (T vs. C) | 0.78 (0.45-1.37) | 0.39 | |
| T | 41 | 47 | ||||
Primer sequences, restriction enzymes, and restriction digestion patterns were used for genotyping of the studied genetic variants_
| Gene | Variant | Primer sequence (5′-> 3′) | Amplicon size | Restriction Enzyme | Restriction digestion pattern |
|---|---|---|---|---|---|
| ANXA2 | rs7170178 | F: 5’-TTCACAGCAGTTCAAAATAC-3’ | 550bp | HpyCH4V | G: 338bp/106bp/72bp/34bp |
| rs17191344 | F: 5’-TGCAAACAGGCGCCACTAAA-3’ | 280bp | Hpy99I | A: 94bp/186bp | |
| rs11633032 | F: 5’-CAACAAGCATGGGGTTGC-3’ | 131bp | BceAI | G: 123bp/8bp | |
| MED12 | rs1057519912 | F: 5’-ACAAGCCTACAGTAGGAATCC-3’ | 143bp | Smll | C: 94bp/49bp |
| CALM1 | rs12885713 | F: 5’-GGGATACGGCGCACCATATAT-3’ | 179bp | HpyCH4V | T: 144bp/35bp |
| MAPK1 | rs1057519911 | F: 5’-TGGCTGATCTATGTCCCTGA-3’ | 122bp | MnlI | C: 63bp/59bp |