Have questions? Visit https://www.reddit.com/r/SNPedia


From SNPedia

Geno Mag Summary
(A;A) 3 2.7x increased risk for Type 2 Diabetes. Mothers have babies 54g heavier.
(A;G) 2 1.3x increased risk for Type 2 Diabetes. Mothers have babies 27g heavier.
(G;G) 2 Mothers have typical Birth-Weight babies. Slightly lower risk of Type 2 Diabetes.
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs1799884
1000 genomesrs1799884
GWAS Ctlgrs1799884
Max Magnitude3
? (A;A) (A;G) (G;G) 28

rs1799884, known also as the -30 SNP of the GCK gene, has been associated with type-2 diabetes.

This SNP is one of 4 relatively common SNPs reported to represent risk for type-2 diabetes in the DESIR prospective study of 3,877 Caucasian participants. Under a recessive model, the odds ratio for rs1799884(A;A) homozygotes is 2.70 (CI: 1.51-4.83, p=0.0008); under an additive model, the odds ratio is 1.34 (CI: 1.07-1.69, p=0.01). For the 4 SNPs, each risk allele increased type-2 diabetes risk by 1.34x (p=2x10e-6), with an odds ratio of 2.48 (CI: 1.59-3.86) for carriers of 4 or more compared to those with one or none (risk alleles).[PMID 17977958]

[PMID 19241058] Association of GCKR rs780094, alone or in combination with GCK rs1799884, with type 2 diabetes and related traits in a Han Chinese population.


[PMID 20682688OA-icon.png] Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study: common genetic variants in GCK and TCF7L2 are associated with fasting and post-challenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes from the International Association of Diabetes and Pregnancy Study Groups

[PMID 20858683OA-icon.png] Common variants at ten genomic loci influence hemoglobin A1C levels via glycemic and non-glycemic pathways

GWAS snp
PMID [PMID 21909109]
Title Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
Risk Allele A
P-val 2E-19
Odds Ratio 0.0619 [0.049-0.075] mg/dL increase

[PMID 22716779] Relevant associations of the glucokinase regulatory protein/glucokinase gene variation with TAG concentrations in a high-cardiovascular risk population: modulation by the Mediterranean diet

[PMID 17186458OA-icon.png] A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses.

[PMID 17503332OA-icon.png] Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals.

[PMID 18332101] Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes.

[PMID 18498634OA-icon.png] The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.

[PMID 18521185OA-icon.png] Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.

[PMID 18556336OA-icon.png] The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population.

[PMID 18689695OA-icon.png] Predicting diabetes: clinical, biological, and genetic approaches: data from the Epidemiological Study on the Insulin Resistance Syndrome (DESIR).

[PMID 19018513] The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits.

[PMID 19060907OA-icon.png] Variants in MTNR1B influence fasting glucose levels.

[PMID 19073768OA-icon.png] Interaction effect of genetic polymorphisms in glucokinase (GCK) and glucokinase regulatory protein (GCKR) on metabolic traits in healthy Chinese adults and adolescents.

[PMID 19096518OA-icon.png] Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.

[PMID 19197348OA-icon.png] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.

[PMID 19368707OA-icon.png] Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study.

[PMID 19533084OA-icon.png] Combined effects of single-nucleotide polymorphisms in GCK, GCKR, G6PC2 and MTNR1B on fasting plasma glucose and type 2 diabetes risk.

[PMID 19741163OA-icon.png] Additive effects of genetic variation in GCK and G6PC2 on insulin secretion and fasting glucose.

[PMID 19937311] Common variants at the GCK, GCKR, G6PC2-ABCB11 and MTNR1B loci are associated with fasting glucose in two Asian populations.

[PMID 20227404] The glucokinase gene promoter polymorphism -30G>A (rs1799884) is associated with fasting glucose in healthy pregnant women but not with gestational diabetes.

[PMID 20628598OA-icon.png] Common polymorphisms in MTNR1B, G6PC2 and GCK are associated with increased fasting plasma glucose and impaired beta-cell function in Chinese subjects.

[PMID 20661421OA-icon.png] Association of rs780094 in GCKR with metabolic traits and incident diabetes and cardiovascular disease: the ARIC Study.

[PMID 20668700OA-icon.png] Effects of GCK, GCKR, G6PC2 and MTNR1B variants on glucose metabolism and insulin secretion.

[PMID 21697023] [Fasting hyperglycaemia and polymorphism in glucokinase promoter (rs1799884)].

[PMID 23690305OA-icon.png] Genetic variants and the risk of gestational diabetes mellitus: a systematic review

[PMID 23840762OA-icon.png] Large Scale Meta-Analyses of Fasting Plasma Glucose Raising Variants in GCK, GCKR, MTNR1B and G6PC2 and Their Impacts on Type 2 Diabetes Mellitus Risk

GWAS snp
PMID [PMID 23575436]
Trait Glycemic traits
Title New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.
Risk Allele A
P-val 5E-18
Odds Ratio .06 [0.049-0.077] mmol-1 increase

[PMID 22517333] Associations of apolipoprotein A5 (APOA5), glucokinase (GCK) and glucokinase regulatory protein (GCKR) polymorphisms and lifestyle factors with the risk of dyslipidemia and dysglycemia in Japanese - a cross-sectional data from the J-MICC Study.

[PMID 22996131OA-icon.png] Monogenic models: what have the single gene disorders taught us?

GWAS snp
PMID [PMID 24244560OA-icon.png]
Trait Glycated hemoglobin levels
Title A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry.
Risk Allele T
P-val 6E-8
Odds Ratio .44 [0.42-0.46] unit increase
GWAS snp
PMID [PMID 24647736OA-icon.png]
Trait Glycated hemoglobin levels
Title Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
Risk Allele T
P-val 2E-22
Odds Ratio .12 [0.10-0.14] unit increase

[PMID 25633883] Association of the glucokinase gene promoter polymorphism -30G > A (rs1799884) with gestational diabetes mellitus susceptibility: a case-control study and meta-analysis

[PMID 28072873OA-icon.png] Association Study with 77 SNPs Confirms the Robust Role for the rs10830963/G of MTNR1B Variant and Identifies Two Novel Associations in Gestational Diabetes Mellitus Development.

[PMID 28359772] GCK, GCKR, FADS1, DGKB/TMEM195 and CDKAL1 Gene Polymorphisms in Women with Gestational Diabetes.