Table 4.
Genetic variants studied in relation to gestational diabetes mellitus
| Gene | Location | Variant | Association |
| Genes related to insulin secretion | |||
| ABCC8 | 11p15.1 | tagGCC allele of exon 16 and the AGG allele of the R1273R | Significant[97] |
| KCNJ11 | 11p15.1 | E23K | Significant[98] |
| UCP-2 | 11q13 | UCP2-866G> A | Controversial[98] |
| MT-ND1 | mtDNA | T3398C mutation | Significant[100] |
| TCF7L2 | 10q25.3 | rs7903146 | Significant[101,102] |
| GCK | 7p15.3-p15.1 | rs1799884 (-30G/A) | Significant[105-107] |
| HNF4A | 20q13.12 | rs2144908, rs2425637 and rs1885088 | No association[105] |
| HNF1A | 12q24.2 | rs1169288, rs1800574 | No association[105,108] |
| Genes of insulin and insulin receptors | |||
| INS | 11p15.5 | INS-VNTR class-III allele | Controversial[110,111] |
| INSR | 19p13.3-p13.2 | INSR allele-1 Kpn I RFLP | Significant[112] |
| IGF2 | 11p15.5 | IGF2 Bam HI RFLP | Significant[112] |
| IGF2BP2 | 3q27.2 | rs4402960 | Significant[113-115] |
| IRS1 | 2q36 | rs1801278 (Gly972Arg) | Controversial[98,107] |
| Genes of insulin resistance | |||
| PPARG | 3p25 | rs1801282 | No association[107] |
| PPARGC1A | 4p15.1 | rs8192678 | No association[101,118] |
| ADRB3 | 8p11.23 | rs4994 (Trp64Arg) | Controversial[101,194,119-121] |
| SLC2A1 | 1p34.2 | SLC2A1 Xba I RFLP | No association[112] |
| ADIPOQ | 3q27 | rs1501299 | No association[101] |
| FOXC2 | 16q24.1 | -512C allele | No association[101] |
| HLA genes | |||
| HLA | 6p21 | DR3 and DR4 | Controversial[122,123,125] |
| HLA | 6p21 | DR3-DQ2/X, DR4-DQ8/X with positive autoantibodies | Associated[124] |
| HLA | 6p21 | DR7-DQ2/X, DR9-DQ9/X and DR14-DQ5/X | Associated[124] |
| HLA | 6p21 | DQB1 alleles | Associated[111] |
| Other genes | |||
| CAPN10 | 2q37.3 | SNP-19, SNP-43, SNP-44, SNP-63) | No association[98,101] |
| HFE | 6p21.3 | C282Y in Northern and Central European women | Associated[127] |
| HFE | 6p21.3 | H63D | No association[127] |
| MBL2 | 10q11.2 | rs1800450 (Gly54Asp) | Significant[128] |
| MBL2 | 10q11.2 | rs5030737 (Arg52Cys) | No association[128] |
| SERPINE1 | 7q22.1 | -675 4G/5G | Could be associated[130] |
ABCC8: ATP-binding cassette transporter sub-family C member 8; ADIPOQ: Adiponectin ADRB3 adrenergic receptor β3; CAPN10: Calpaine 10; FOXC2: Forkhead box C2; GCK: Glucokinase; HFE: Haemochromatosis; HLA: Human leukocyte antigen; HNF4A: Hepatocyte nuclear factor 4 alpha; HNF1A: Hepatocyte nuclear factor 1 alpha; IGF2BP2: Insulin-like growth factor-2 mRNA-binding protein-2; IGF2: Insulin-like growth factor 2; IRS1: Insulin receptor substrate 1; INS: Insulin; INSR: Insulin receptor; KCNJ11: Potassium channel inwardly rectifying subfamily J member 11; MBL2: Mannose binding lectin 2; MT-ND1: Mitochondrial NADH dehydrogenase-1; PPARG: Peroxisome proliferator-activated receptor gamma; PPARGCIA: Peroxisome proliferator-activated receptor gamma coactivator 1-alpha; RFLP: Restriction fragment length polymorphism; SERPINE1: Serpin peptidase inhibitor, clade E, member 1; SLC2A1: Solute carrier family 2 (facilitated glucose transporter), member 1; SNP: Single nucleotide polymorphism; TCF7L2: Transcription factor 7-like 2; UCP-2: Uncoupling protein-2; VNTR: Variable number of tandem repeats.