Skip to main content
. Author manuscript; available in PMC: 2015 Mar 1.
Published in final edited form as: Diabet Med. 2014 Mar;31(3):254–262. doi: 10.1111/dme.12352

Table 3.

Genetic loci demonstrating genome-wide association with maternal metabolic traits

Gene Chromosome Encoded protein Protein function Associated maternal trait Associated metabolic traits in non-gravid populations
G6PC2 2 Glucose-6-phosphatase, catalytic, 2 Component of an integral membrane system that catalyses glucose-6- phosphate hydrolysis Fasting glucose Fasting glucose
GCKR 2 Glucokinase regulator Regulatory protein that inhibits glucokinase by forming an inactive complex with the enzyme Fasting C-peptide, fasting glucose Lipid phenotypes, fasting glucose, 2-h glucose, fasting insulin, Type 2 diabetes
PCSK1 5 Proprotein convertase subtilisin/kexin type 1 Calcium-dependent serine endoprotease involved in proteolytic activation of several precursor proteins including proinsulin, pro- glucagon-like peptide 1 and pro-opiomelancortin, among others Fasting glucose Findings not consistent but associated with obesity-related traits, fasting plasma glucose, 2-h plasma glucose, and fasting and post-glucose proinsulin levels
PPP1R3B 8 Protein phosphatase 1, regulatory subunit 3B Facilitates interaction of protein phosphatase 1 with enzymes of glycogen metabolism Fasting C-peptide, fasting glucose Lipid phenotypes, fasting glucose, C-reactive protein, Type 2 diabetes
HKDC1 10 Hexokinase domain containing 1 Structure consistent with a hexokinase, but function not yet defined 2-h glucose Nominal association with 2-h glucose in a meta-analysis of over 40 000 individuals
MTNR1B 11 Melatonin receptor 1B G-protein coupled receptor that is expressed on β-cells, binds melatonin and may antagonize insulin release Fasting glucose, 1-h glucose Fasting glucose, impaired fasting glucose, Type 2 diabetes, altered β-cell function, including decreased insulin release following oral and intravenous glucose
BACE2 21 β-site amyloid polypeptide cleaving enzyme 2 Not defined Fasting C-peptide None reported