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From SNPedia

Geno Mag Summary
(C;C) 0 normal risk of Type-2 Diabetes
(C;G) 2.7 increased type-2 diabetes risk; higher gestational diabetes risk
(G;G) 3.1 increased type-2 diabetes risk; higher gestational diabetes risk
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs10830963
23andMe allrs10830963
SNP Nexus

GWAS Ctlgrs10830963
Max Magnitude3.1
? (C;C) (C;G) (G;G) 28
[PMID 19241057] rs10830963 was associated with an increased risk of type-2 diabetes in our Han Chinese cohort (OR 1.16, 95% CI 1.03-1.31, p = 0.015). As previously described, the risk variant was also associated with increased fasting plasma glucose, showing an increase of 0.068 mmol/l (95% CI 0.036-0.100, p = 4 x 10(-5)) per risk allele

[PMID 19088850OA-icon.png] rs10830962, rs4753426, and rs10830963 were significantly associated with higher fasting plasma glucose concentrations and reduced OGTT- and IVGTT-induced insulin release. rs3781638 displayed significant association with lower fasting plasma glucose levels and increased OGTT-induced insulin release

[PMID 19324940OA-icon.png] A study totaling 19,000+ Europeans concluded that rs10830963 had the most influence of any MTNR1B gene SNP on the risk for type-2 diabetes. Specifically, the (G) allele increased the risk of isolated impaired fasting glycemia (OR=1.64, P=5.5x10(-11)) but not isolated impaired glucose tolerance.

[PMID 21658282OA-icon.png] 900+ patients with gestational diabetes were studied, and the rs10830963(G) SNP was postulated to perhaps be a causal SNP for the condition, with an odds ratio of ~1.3 - 1.4.

GWAS snp
PMID [PMID 19060907OA-icon.png]
Trait Fasting plasma glucose
Title Variants in MTNR1B influence fasting glucose levels
Risk Allele G
P-val 3E-50
Odds Ratio 0.07 [0.06-0.08] mmol/l increase

[PMID 19651812OA-icon.png] Common genetic variation near melatonin receptor MTNR1B contributes to raised plasma glucose and increased risk of type-2 diabetes amongst Indian Asians and European whites

[PMID 19741166OA-icon.png] Common Genetic Determinants of Glucose Homeostasis in Healthy Children: The European Youth Heart Study (EYHS)

GWAS snp
PMID [PMID 20081858OA-icon.png]
Trait Fasting glucose-related traits
Title New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
Risk Allele G
P-val 0
Odds Ratio None None

[PMID 20536959] Two susceptible diabetogenic variants near/in MTNR1B are associated with fasting plasma glucose in a Han Chinese cohort

[PMID 20802253OA-icon.png] Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion

[PMID 20839289OA-icon.png] Impact of repeated measures and sample selection on genome-wide association studies of fasting glucose

[PMID 21036910OA-icon.png] Association of a fasting glucose genetic risk score with subclinical atherosclerosis: The Atherosclerosis Risk in Communities (ARIC) Study

[PMID 21059861] Association of a melatonin receptor 1B (MTNR1B) gene variant with fasting glucose and HOMA-B in children and adolescents of high BMI-SDS groups

[PMID 21470412OA-icon.png] A common polymorphism rs3781637 in MTNR1B is associated with type 2 diabetes and lipids levels in Han Chinese individuals

[PMID 21949744OA-icon.png] Effects of 16 Genetic Variants on Fasting Glucose and Type 2 Diabetes in South Asians: ADCY5 and GLIS3 Variants May Predispose to Type 2 Diabetes

[PMID 22096510OA-icon.png] Association of six single nucleotide polymorphisms with gestational diabetes mellitus in a chinese population

[PMID 22450346] The rs10830963 variant of melatonin receptor MTNR1B is associated with increased risk for gestational diabetes mellitus in a Greek population

[PMID 22508271OA-icon.png] Fasting Glucose GWAS Candidate Region Analysis Across Ethnic Groups in the Multiethnic Study of Atherosclerosis (MESA).

[PMID 22698518] Melatonin pathway genes are associated with progressive subtypes and disability status in multiple sclerosis among Finnish patients

[PMID 22768333OA-icon.png] Association of Genetic Variants of Melatonin Receptor 1B with Gestational Plasma Glucose Level and Risk of Glucose Intolerance in Pregnant Chinese Women

GWAS snp
PMID [PMID 22286219OA-icon.png]
Title Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
Risk Allele
P-val 3E-11
Odds Ratio 0.1400 None

[PMID 22768041OA-icon.png] Allele Summation of Diabetes Risk Genes Predicts Impaired Glucose Tolerance in Female and Obese Individuals

[PMID 19184136OA-icon.png] Examination of association of genes in the serotonin system to autism.

[PMID 19324937OA-icon.png] Previously associated type 2 diabetes variants may interact with physical activity to modify the risk of impaired glucose regulation and type 2 diabetes: a study of 16,003 Swedish adults.

[PMID 19455304OA-icon.png] Common genetic variation in the melatonin receptor 1B gene (MTNR1B) is associated with decreased early-phase insulin response.

[PMID 19502414OA-icon.png] Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men.

[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 19822575OA-icon.png] Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing.

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

[PMID 20043853OA-icon.png] Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus.

[PMID 20152958OA-icon.png] A weighted false discovery rate control procedure reveals alleles at FOXA2 that influence fasting glucose levels.

[PMID 20398260OA-icon.png] MTNR1B rs10830963 is associated with fasting plasma glucose, HbA1C and impaired beta-cell function in Chinese Hans from Shanghai.

[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 20664687OA-icon.png] Single-nucleotide polymorphisms in chromosome 3p14.1- 3p14.2 are associated with susceptibility of type 2 diabetes with cataract.

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

[PMID 20712903OA-icon.png] Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.

[PMID 20870969OA-icon.png] Genetic predisposition to long-term nondiabetic deteriorations in glucose homeostasis: Ten-year follow-up of the GLACIER study.

[PMID 20959387] Association of rs10830963 and rs10830962 SNPs in the melatonin receptor (MTNR1B) gene among Han Chinese women with polycystic ovary syndrome.

[PMID 21278902OA-icon.png] Genetic risk profiling for prediction of type 2 diabetes.

[PMID 21366812] Relationship between MTNR1B (melatonin receptor 1B gene) polymorphism rs10830963 and glucose levels in overweight children and adolescents.

[PMID 21380592] No effect by the common gene variant rs10830963 of the melatonin receptor 1B on the association between sleep disturbances and type 2 diabetes: results from the Nord-Trondelag Health Study.

[PMID 21558052OA-icon.png] A low frequency variant within the GWAS locus of MTNR1B affects fasting glucose concentrations: Genetic risk is modulated by obesity.

[PMID 21711391] Association and evolutionary studies of the melatonin receptor 1B gene (MTNR1B) in the self-contained population of Sorbs from Germany.

[PMID 22377712] Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.

GWAS snp
PMID [PMID 22581228OA-icon.png]
Title A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
Risk Allele
P-val 4E-105
Odds Ratio None None

GET Evidence
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.203125

[PMID 22759724] Polymorphisms in the melatonin receptor 1B gene and the risk of delirium

[PMID 23029294OA-icon.png] Meta-analysis of the relationship between common type 2 diabetes risk gene variants with gestational diabetes mellitus

[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

[PMID 24005634] [Involvement of melatonin MT2 receptor mutants in type 2 diabetes development]

[PMID 24157813] Association between Genetic Variations in MTNR1A and MTNR1B Genes and Gestational Diabetes Mellitus in Han Chinese Women

[PMID 23092954OA-icon.png] SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.

[PMID 23456907OA-icon.png] Maternal genotype and gestational diabetes.

[PMID 23462794OA-icon.png] Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets.

[PMID 23611530] Genetics of melatonin receptor type 2 is associated with left ventricular function in hypertensive patients treated according to guidelines.

[PMID 25132852OA-icon.png] MTNR1B Genetic Variability Is Associated with Gestational Diabetes in Czech Women

GWAS snp
PMID [PMID 24509480OA-icon.png]
Trait Type 2 diabetes
Title Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
Risk Allele G
P-val 2E-7
Odds Ratio 1.11 [1.06-1.16]
GWAS snp
PMID [PMID 23251661OA-icon.png]
Trait Obesity-related traits
Title Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
Risk Allele G
P-val 4E-8
Odds Ratio .05 [NR] mg/dL increase

[PMID 25707907] Season-dependent associations of circadian rhythm-regulating loci (CRY1, CRY2 and MTNR1B) and glucose homeostasis: the GLACIER Study

[PMID 25898821] The polymorphisms of melatonin receptor 1B gene (MTNR1B) (rs4753426 and rs10830963) and susceptibility to adolescent idiopathic scoliosis: a meta-analysis

[PMID 26440713] Common type 2 diabetes risk variant in MTNR1B worsens the deleterious effect of melatonin on glucose tolerance in humans

[PMID 26519818] Family association study between melatonin receptor gene polymorphisms and polycystic ovary syndrome in Han Chinese

[PMID 26551672] Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.

[PMID 26563312] Relationship between melatonin receptor 1B (rs10830963 and rs1387153) with gestational diabetes mellitus: a case-control study and meta-analysis

[PMID 26912228] Insomnia does not mediate or modify the association between MTNR1B risk variant rs10830963 and glucose levels.