rs10501320

This is a regulatory region variant variant in the MADD gene.

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GWAS Catalog Trait Associations (9)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

insulin measurement

Strawbridge RJ et al. “Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.” Diabetes 60(10):2624-34 (2011)

Allele G

OR —

p 1.0e-88

N 10,701

Large GWAS

European

blood glucose amount

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele C

OR 0.04

p 3.0e-40

N 928,679

Large GWAS

multi-ancestry

glucose measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.03

p 9.0e-38

N 394,642

Large GWAS

European

Lagou V et al. “GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification.” Nature Genetics 55(9):1448-1461 (2023)

Allele C

OR 0.00

p 1.0e-30

N 475,416

Large GWAS

multi-ancestry

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele C

OR 0.02

p 1.0e-17

N 450,015

Large GWAS

multi-ancestry

Chen J et al. “The trans-ancestral genomic architecture of glycemic traits.” Nature Genetics 53(6):840-860 (2021)

Allele C

OR —

β 0.022

p 1.0e-29

N 200,622

Large GWAS

European

HbA1c measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.02

p 8.0e-33

N 394,642

Large GWAS

European

hemoglobin A1 measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele C

OR 0.03

p 6.0e-25

N 415,403

Large GWAS

multi-ancestry

nervousness

Nagel M et al. “Item-level analyses reveal genetic heterogeneity in neuroticism.” Nature Communications 9(1):905 (2018)

Allele C

OR 6.85

p 7.0e-12

N 369,499

Large GWAS

European

Anxiety

Nagel M et al. “Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.” Nature Genetics 50(7):920-927 (2018)

Allele C

OR 0.02

p 3.0e-11

N 348,219

Meta-analysisLarge GWAS

European

body mass index

Hawkes G et al. “Genetic evidence that high BMI in childhood has a protective effect on intermediate diabetes traits, including measures of insulin sensitivity and secretion, after accounting for BMI in adulthood.” Diabetologia 66(8):1472-1480 (2023)

Allele G

OR 0.01

p 3.0e-10

N 441,761

Large GWAS

European

feeling nervous measurement

Nagel M et al. “Item-level analyses reveal genetic heterogeneity in neuroticism.” Nature Communications 9(1):905 (2018)

Allele C

OR 6.11

p 1.0e-9

N 373,121

Large GWAS

European

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Research that mentions this SNP (1)

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

AssociationN=1,025Margarita Vlassi et al.(2012)· Hormones

This case-control study investigated 25 T2DM-associated SNPs in a multi-ethnic Hawaiian cohort (291 GDM cases, 734 controls) and found ethnicity-specific associations with gestational diabetes. Key findings in Filipinos included rs1113132 (EXT2, OR=1.52, p=0.028), rs1111875 (HHEX, OR=1.5, p=0.047), rs2237892 (KCNQ1, OR=0.49, p<0.001), rs10830963 (MTNR1B, OR=0.63, p=0.025), and rs13266634 (SLC30A8, OR=0.58, p=0.011). In Japanese women, rs4402960 (IGFBP2, OR=0.5, p=0.031) and rs2237892 (KCNQ1, OR=0.5, p=0.03) were significant. Pacific Islanders showed associations with rs10830963 (MTNR1B, OR=0.52, p=0.037) and rs13266634 (SLC30A8, OR=2.43, p=0.03). No SNPs showed consistent associations across all three ethnic groups.

Traits studied:Gestational diabetes mellitus (GDM)Type 2 diabetes mellitus (T2DM)

DOI Metascience Observatory

About MADD

Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

rs10501320

GWAS Catalog Trait Associations (9)

insulin measurement

blood glucose amount

glucose measurement

HbA1c measurement

hemoglobin A1 measurement

nervousness

Anxiety

body mass index

feeling nervous measurement

Research that mentions this SNP (1)

About MADD

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