rs10141867

This is a synonymous variant in the ZBTB42 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

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

apolipoprotein A 1 measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele A

OR 0.02

p 5.0e-17

N 323,833

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (1)

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Functional characterization of a haplotype in the AKT1 gene associated with glucose homeostasis and metabolic syndrome

FunctionalBrennan T. Harmon et al.(2010)· Human Genetics

This functional study characterized a 12-kb haplotype upstream of AKT1 defined by three core polymorphisms (rs1130214, rs10141867, rs33925946) that are associated with glucose homeostasis and metabolic syndrome. The authors performed promoter assays in muscle, bone, and fat cells showing that rs10141867 creates a 15.7-fold enhancer in differentiated muscle. In human skeletal muscle biopsies from heterozygotes, rs10141867 caused a 1.75-fold increase in ZBTB42 expression compared to the ancestral allele, demonstrating tissue-specific effects of the haplotype on metabolic regulation.

Traits studied:Body compositionGlucose homeostasisInsulin resistanceMetabolic syndromeMuscle strength

PubMed DOI Metascience Observatory

About ZBTB42

The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]