Expressive

rs11057272 (SBNO1): Lung Function and Body Shape

Key takeaways

  • rs11057272 sits near the SBNO1 gene and has been studied in genome-wide analyses of lung function and body shape.
  • The alternate allele increases CDK2AP1 expression in whole blood and SBNO1-AS1 expression in liver, aorta, thyroid, and skin.
  • The alternate allele reduces KMT5A expression (a histone-modifying enzyme) in lymphocytes, pituitary tissue, and peripheral nerve.
  • A multi-ancestry respiratory GWAS identified 25 novel lung function loci in East Asian populations using a cross-trait method called PRSxtra.
  • A UK Biobank body shape GWAS in over 400,000 participants found novel loci using allometric measures that account for both height and BMI.

Key takeaways

  • rs11057272 sits near the SBNO1 gene (Strawberry Notch Homolog 1) and has been studied in genome-wide analyses of lung function and body shape.
  • The alternate allele increases CDK2AP1 expression in whole blood and SBNO1-AS1 expression in liver, aorta, thyroid, and skin.
  • The alternate allele reduces KMT5A expression (a histone-modifying enzyme) in lymphocytes, pituitary tissue, and peripheral nerve.
  • A multi-ancestry respiratory GWAS identified 25 novel lung function loci in East Asian populations using a cross-trait method called PRSxtra.
  • A UK Biobank body shape GWAS in over 400,000 participants found novel loci using allometric measures that account for both height and BMI.

What the research says A multi-trait, multi-ancestry genome-wide association study (GWAS) of comorbid respiratory diseases including COPD (chronic obstructive pulmonary disease), asthma, and lung cancer identified 25 new loci associated with lung function in individuals of East Asian ancestry and showed that a cross-trait polygenic risk score approach called PRSxtra significantly improved respiratory disease prediction in diverse populations. A separate GWAS of allometric body shape indices in UK Biobank (219,872 women and 186,825 men of white British ancestry) found that body shape measures calibrated for both height and weight (ABSI, HI, and WHI) identified novel genetic loci not captured by traditional BMI-adjusted measures. GTEx v11 eQTL data (953 donors, FDR less than 0.05) shows that rs11057272 is associated with altered expression of three nearby genes across eight tissue types GTEx Portal.

Reported associations

  • Lung function and respiratory disease risk: This variant's genomic region was examined in a multi-ancestry GWAS that identified 25 novel lung function loci in East Asian ancestry populations, covering COPD, asthma, and lung cancer, with findings validated in the All of Us Research Program.
  • Allometric body shape indices: A UK Biobank GWAS of over 406,000 white British participants studied ABSI (A Body Shape Index), HI (Hip Index), and WHI (Waist-to-Hip Index); allometric adjustment for height yielded loci distinct from those found with simple BMI-adjusted measures.
  • CDK2AP1 expression in whole blood: The alternate allele is associated with increased CDK2AP1 gene expression in whole blood (slope +0.68, p=6.0e-14) GTEx Portal.
  • KMT5A expression in lymphocytes, pituitary, and tibial nerve: The alternate allele is associated with reduced KMT5A expression in EBV-transformed lymphocytes (slope -0.68, p=3.2e-8), pituitary gland (slope -0.58, p=2.5e-8), and tibial nerve (slope -0.52, p=4.5e-7) GTEx Portal.
  • SBNO1-AS1 expression in artery, liver, thyroid, and skin: The alternate allele is associated with increased SBNO1-AS1 expression in aortic artery (slope +0.68, p=4.6e-6), liver (slope +0.64, p=1.2e-6), thyroid (slope +0.52, p=2.5e-7), and sun-exposed lower leg skin (slope +0.51, p=8.5e-7) GTEx Portal.

Evidence quality The respiratory GWAS drew on multiple ancestry groups and validated its polygenic score method in the All of Us Research Program, with particular strength in East Asian ancestry populations where 25 novel lung function loci were newly identified. The UK Biobank body shape GWAS was large (n=406,697) and used Bayesian linear mixed models (BOLT-LMM), though it was restricted to white British participants, which limits how well findings generalize to other ancestries. Neither study text explicitly identifies rs11057272 by rsID in the excerpts provided, so precise effect sizes for this specific variant's GWAS-level associations with lung function or body shape are not reported here. The strongest direct molecular evidence for this variant comes from GTEx v11 eQTL analyses (953 donors, FDR less than 0.05), which document consistent and highly significant expression effects on CDK2AP1, KMT5A, and SBNO1-AS1 across multiple tissues; these eQTL associations represent mechanism-level data, not direct evidence of disease causation.

Tissue-specific expression effects

  • CDK2AP1: Increased expression in whole blood; CDK2AP1 is a gene involved in cell cycle regulation and DNA repair processes GTEx Portal.
  • KMT5A: Reduced expression in EBV-transformed lymphocytes, pituitary gland, and tibial nerve; KMT5A encodes a histone methyltransferase, meaning an enzyme that adds chemical marks to the proteins around which DNA is wound, influencing which genes are switched on or off GTEx Portal.
  • SBNO1-AS1: Increased expression in aortic artery, liver, thyroid gland, and sun-exposed skin; SBNO1-AS1 is an antisense RNA, a regulatory RNA molecule transcribed from the DNA strand opposite to the SBNO1 coding gene itself GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Screening

  • Spirometry for baseline lung function assessment Moderate

    rs11057272 is associated with FEV1 in large GWAS (n=587,666), indicating this variant influences respiratory function.

    Obtain baseline spirometry; repeat periodically or if respiratory symptoms develop

Frequently asked questions

What is rs11057272?

rs11057272 is a single-nucleotide polymorphism (SNP), a common position in the genome where individuals may carry different DNA letters. It is located near the SBNO1 gene (Strawberry Notch Homolog 1) and has been studied in large genome-wide association studies of lung function and body shape.

What does the SBNO1 gene do?

SBNO1 (Strawberry Notch Homolog 1) is a gene involved in transcriptional regulation. Based on GTEx eQTL data, variants at this locus influence expression of three nearby genes: CDK2AP1 in blood, KMT5A (a histone-modifying enzyme) in lymphocytes, pituitary, and nerve, and SBNO1-AS1 (a regulatory antisense RNA) in artery, liver, thyroid, and skin.

Is rs11057272 associated with lung disease?

This variant's region has been examined in a multi-ancestry GWAS covering COPD, asthma, and lung cancer that identified 25 new lung function loci in East Asian ancestry populations. The specific effect size for rs11057272 on lung disease risk is not reported in the available study text.

What is an eQTL and why does it matter for rs11057272?

An eQTL (expression quantitative trait locus) is a genetic variant that statistically predicts how much RNA a nearby gene produces in a specific tissue. GTEx v11 data shows that rs11057272 is a significant eQTL for three genes across eight tissues, providing molecular evidence that this variant is functionally active, though changes in gene expression do not directly translate to health outcomes.

What body shape traits has rs11057272 been studied for?

This locus was included in a UK Biobank GWAS of allometric body shape indices including ABSI (A Body Shape Index), Hip Index, and a Waist-to-Hip Index. These indices are mathematically adjusted for both height and weight, capturing body shape independent of general body size, and the study found they revealed genetic associations not detected by traditional BMI-adjusted measures.