rs3817334

This is a intron variant variant in the MTCH2 gene.

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GWAS Catalog Trait Associations (5)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.03
p 1.0e-78
N 1,122,049
Large GWAS
European
Hoffmann TJ et al. “A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.” Genetics 210(2):499-515 (2018)
Allele C
OR —
β 0.023
p 6.0e-20
N 334,487
Large GWAS
multi-ancestry
Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)
Allele C
OR —
β 0.024
p 1.0e-18
N 309,889
Large GWAS
European
Locke AE et al. “Genetic studies of body mass index yield new insights for obesity biology.” Nature 518(7538):197-206 (2015)
Allele C
OR 0.03
p 2.0e-11
N 238,944
Large GWAS
multi-ancestry
Akiyama M et al. “Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.” Nature Genetics 49(10):1458-1467 (2017)
Allele C
OR 0.03
p 1.0e-24
N 158,284
Large GWAS
multi-ancestry
Justice AE et al. “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.” Nature Communications 8:14977 (2017)
Allele C
OR 0.02
p 1.0e-8
N 153,041
Meta-analysisLarge GWAS
multi-ancestry
Speliotes EK et al. “Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.” Nature Genetics 42(11):937-48 (2010)
Allele C
OR 0.06
p 2.0e-12
N 123,865
Large GWAS
European
Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele C
OR 0.02
p 3.0e-8
N 123,097
Meta-analysisLarge GWAS
multi-ancestry
Wood AR et al. “Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively.” Diabetologia 59(6):1214-21 (2016)
Allele C
OR 0.03
p 2.0e-13
N 119,688
Large GWAS
European

intelligence

Davies G et al. “Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.” Nature Communications 9(1):2098 (2018)
Allele T
OR 6.13
p 9.0e-10
N 300,486
Large GWAS
European

physical activity measurement, body mass index

Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele T
OR 0.02
p 1.0e-11
N 161,368
Meta-analysisLarge GWAS
multi-ancestry

platelet count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 8.0e-41
N 406,601
Major Consortium StudyLarge GWAS
European
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 4.0e-27
N 394,642
Large GWAS
European

smoking behavior, body mass index

Justice AE et al. “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.” Nature Communications 8:14977 (2017)
Allele T
OR 0.02
p 1.0e-11
N 196,760
Meta-analysisLarge GWAS
multi-ancestry
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Research that mentions this SNP (3)

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Association of the LINGO2-related SNP rs10968576 with body mass in a cohort of elderly Swedes
AssociationN=949Mathias Rask-Andersen et al.(2015)· Molecular Genetics and Genomics

Association study of 35 GWAS-identified body mass SNPs in 949 elderly Swedish participants (mean age 70-75 years). Significant association found between rs10968576 (LINGO2, intron 4) and BMI with a larger effect size (β = 0.69 kg/m²) than reported in younger populations, suggesting age-specific genetic effects on body mass in the elderly.

Traits studied:Body Mass IndexBody adiposityObesityOverweight
PubMedDOIMetascience Observatory
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Genetic variation at the CELF1 (CUGBP, elav‐like family member 1 gene) locus is genome‐wide associated with Alzheimer's disease and obesity
ReviewAnke Hinney et al.(2014)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This literature review examines the influence of genetic polymorphisms on obesity development and adaptive responses to physical activity, focusing on five candidate genes: COMT (rs4680, Val158Met), DRD2 (rs1800497 Taq1A and rs1799732), FABP2 (rs1799883, Ala54Thr), FTO (rs9939609, A/T), and UCP1 (rs1800592, A-3826G). The review synthesizes molecular mechanisms, phenotypic associations, and implications for human health and training adaptations, noting that physical activity reduces the FTO genetic effect on obesity risk by 30-80% and that various polymorphisms show differential impacts on body composition and metabolic responses to exercise.

Traits studied:Adipose tissue distributionAthletic performanceBody Mass Index (BMI)Body compositionExercise adaptationFat massMuscle massObesityPhysical activity responseWeight loss
PubMedDOIMetascience Observatory
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Common obesity risk alleles in childhood attention‐deficit/hyperactivity disorder
AssociationN=4,415Özgür Albayrak et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This study examined whether 32 obesity-associated genetic risk alleles are associated with childhood ADHD in a German GWAS sample (495 cases, 1,300 controls) and a meta-analysis (2,064 trios, 896 cases, 2,455 controls). The obesity risk allele G at rs206936 in NUDT3 was associated with increased ADHD risk (OR=1.39, P=3.4×10⁻⁴), and rs6497416 in GPRC5B showed association with ADHD in the meta-analysis (P=7.2×10⁻⁴). Several obesity-related SNPs were associated with ADHD endophenotypes including inattention and hyperactivity/impulsivity.

Traits studied:Attention-deficit/hyperactivity disorder (ADHD)Body mass index (BMI)Hyperactivity/impulsivityInattentionObesity
PubMedDOIMetascience Observatory

About MTCH2

This gene encodes a member of the SLC25 family of nuclear-encoded transporters that are localized in the inner mitochondrial membrane. Members of this superfamily are involved in many metabolic pathways and cell functions. Genome-wide association studies in human have identified single-nucleotide polymorphisms in several loci associated with obesity. This gene is one such locus, which is highly expressed in white adipose tissue and adipocytes, and thought to play a regulatory role in adipocyte differentiation and biology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target that can produce two isoforms from the same mRNA by use of alternative in-frame translation termination codons. [provided by RefSeq, Dec 2017]

View all MTCH2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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