rs10769282

This variant is located in the MTCH2 gene.

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GWAS Catalog Trait Associations (1)

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

body fat distribution

Rask-Andersen M et al. “Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.” Nature Communications 10(1):339 (2019)
Allele G
OR —
β 0.024
p 2.0e-12
N 116,138
Large GWAS
European

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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