Expressive

rs10906841 (NMT2): Expression in Arteries and Brain

Key takeaways

  • The alternative allele at rs10906841 reduces NMT2 expression in eight tissues, including arteries, brain regions, and nerve.
  • The largest reduction is in tibial artery, with an effect size of -0.39 on a log2 scale in GTEx data from 953 donors.
  • Brain regions including the cerebellum and nucleus accumbens consistently show lower NMT2 expression with this allele.
  • Effect sizes point in the same direction across all eight tissues, suggesting a broadly acting regulatory mechanism.
  • No trait-level disease associations are directly confirmed for this variant from the provided study excerpts.

Key takeaways

  • The alternative allele at rs10906841 reduces NMT2 (N-myristoyltransferase 2) expression in eight tissues, including arteries, brain regions, and nerve.
  • The largest reduction is in tibial artery, with an effect size of -0.39 on a log2 scale in GTEx data from 953 donors.
  • Brain regions including the cerebellum and nucleus accumbens consistently show lower NMT2 expression with this allele.
  • Effect sizes are consistent in direction across all eight tissues, pointing to a broadly acting regulatory mechanism.
  • No trait-level disease associations are directly confirmed for this variant from the provided study excerpts.

What the research says GTEx v11 data from 953 donors identify the alternative allele at rs10906841 as an eQTL - a variant that influences how much a nearby gene is expressed - for NMT2, with reduced expression across eight tissues, most strongly in tibial artery (effect size -0.39 on a log2 scale, p=6.8e-46) and aorta (effect size -0.37, p=2.3e-16). GTEx Portal A genome-wide study of 5.4 million individuals identified 12,111 independent variants associated with human height, explaining approximately 40 to 45 percent of height variance in European-ancestry populations. Longitudinal genomic analyses show that physical decline is genetically distinct from baseline physical function, with bone mineral density (a measure of bone strength) and telomere length each contributing a standardized effect of approximately 0.05 to rate of physical decline.

Reported associations

  • NMT2 expression - tibial artery: Reduced expression with the alternative allele (effect size -0.39, log2 scale, p=6.8e-46, n=953 donors) GTEx Portal
  • NMT2 expression - aorta: Reduced expression (effect size -0.37, p=2.3e-16) GTEx Portal
  • NMT2 expression - esophagus gastroesophageal junction: Reduced expression (effect size -0.36, p=5.1e-20) GTEx Portal
  • NMT2 expression - brain cerebellum: Reduced expression (effect size -0.36, p=4.8e-20) GTEx Portal
  • NMT2 expression - esophagus muscularis: Reduced expression (effect size -0.35, p=1.7e-25) GTEx Portal
  • NMT2 expression - brain nucleus accumbens (basal ganglia): Reduced expression (effect size -0.30, p=1.4e-14) GTEx Portal
  • NMT2 expression - brain cerebellar hemisphere: Reduced expression (effect size -0.29, p=4.9e-20) GTEx Portal
  • NMT2 expression - tibial nerve: Reduced expression (effect size -0.27, p=5.8e-20) GTEx Portal

Evidence quality The GTEx v11 eQTL evidence is statistically strong: p-values range from 1.4e-14 to 6.8e-46 across all eight tissues in 953 donors, all below conventional genome-wide significance thresholds, with a uniformly negative effect direction that supports a genuine regulatory signal. GTEx Portal Two large-scale GWAS studies were included alongside this data, one examining height in 5.4 million individuals and the other examining longitudinal physical and cognitive decline in the UK Biobank, but neither study excerpt explicitly names rs10906841 in its results; trait-level associations for this variant should therefore be considered preliminary.

Tissue-specific expression effects

  • NMT2: Reduced expression in tibial artery, aorta, gastroesophageal junction, brain cerebellum, esophageal muscularis, brain nucleus accumbens (basal ganglia), brain cerebellar hemisphere, and tibial nerve; the alternative allele consistently reduces expression across all eight reported tissues GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is NMT2 and what does it do?

NMT2 stands for N-myristoyltransferase 2, an enzyme that attaches a fatty acid called myristate to proteins. This modification helps proteins anchor to cell membranes and influences their activity in cellular signaling.

Which tissues does rs10906841 affect?

GTEx eQTL data show the alternative allele reduces NMT2 expression in tibial artery, aorta, esophageal gastroesophageal junction, brain cerebellum, esophageal muscularis, brain nucleus accumbens, brain cerebellar hemisphere, and tibial nerve - all eight tissues show reduced expression in the same direction.

Is rs10906841 linked to height or aging?

Studies on height in 5.4 million individuals and longitudinal physical decline were provided as context for this variant, but the available study text does not explicitly name rs10906841 among their findings. Any link to these traits should be considered preliminary.

What does it mean that rs10906841 is an eQTL?

An eQTL (expression quantitative trait locus) is a genetic position where variation is statistically linked to differences in how much a nearby gene is expressed. This identifies a potential biological mechanism but does not by itself establish disease risk or clinical significance.

How robust is the GTEx evidence for this variant?

GTEx v11 data from 953 donors show p-values from 1.4 x 10^-14 to 6.8 x 10^-46 across eight tissues, well below standard genome-wide thresholds. The effect is consistently negative across all tissues, adding confidence to the signal.