Table 2.
List of observed GCK variants with their allele frequencies in the GDM and control group.
| S. No. | Region | Variation at cDNA level | Amino acid change | Zygosity | Allele frequency GDM (n = 51) |
Allele frequency Control (n = 48) |
P value |
|---|---|---|---|---|---|---|---|
| 1. | 5′-UTR | c.-84 C>G | - | Heterozygous | 5.9 | 9.4 | <.000 |
| 2. | Promoter | c.-516G>A | - | Homozygous | 13.7 | 18.8 | <.000 |
| 3. | Exon-3 | c.213C>T | p.Val71Val | Heterozygous | 0 | 1.0 | <.000 |
| 4. | Exon-3 | c.270G>A | p.Lys90Lys | Heterozygous | 0 | 2.1 | <.000 |
| 5. | Intron-3 | c.364-13G>A | - | Heterozygous | 0 | 1.0 | <.000 |
| 6. | Intron-4 | c.483+33G>A | - | Heterozygous | 0 | 1.0 | <.000 |
| 7. | Exon-6 | c.648 C>T | p.Tyr215Tyr | Heterozygous | 0.9 | 0 | <.000 |
| 8. | Intron-6 | c.676+38 T>C | - | Homozygous | 45.1 | 70.8 | <.000 |
| 9. | Intron-9 | c.1256+8C>T | - | Heterozygous | 22.5 | 27.1 | <.000 |
| 10. | Intron-9 | c.1256+49G>A | - | Heterozygous | 2.9 | 6.3 | <.000 |
| 11. | Exon-10 | c.1254-52to61delGTAATGAATG | - | Homozygous | 1.96 | 0 | <.000 |
cDNA, complementary DNA; GDM, gestational diabetes mellitus.