| ABO |
| LOCUS ID | 28 | |||||||||||||
| GENE_SYMBOL | ABO | |||||||||||||
| GENE NAME | ABO blood group (tra | |||||||||||||
| SYNONYMNS | GTB, GAT, A3GALNT, A3GALT1 | |||||||||||||
| CHROMOSOME | 9 | |||||||||||||
| HOMOLOGENE ID | 69306 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles hav |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Cardiovascular | 1. The ABO blood types are associated with cancers, cardiovascular diseases and type 2 diabetes mellitus but whether they are also associated with gestational diabetes mellitus (GDM) is unknown. | 25820620 |
| Insulin resistance and inflammation | 1. The associations of the ABO blood group gene and NR5A2 gene variants with PC discovered by recent genome-wide association studies may link insulin resistance, inflammation, and thrombosis to pancreatic carcinogenesis. | 20647474 |