Expressive

rs11701104 (RUNX1): Male Pattern Baldness Variant

Key takeaways

  • rs11701104, near RUNX1 and RUNX1-AS1, is one of more than 250 genetic signals tied to male pattern baldness in a study of over 52,000 men.
  • Common genetic variants explain roughly 50% of the variation in male pattern baldness.
  • A polygenic score built from 250+ loci predicts severe hair loss with about 78% accuracy (AUC = 0.78) in men aged 40-69.
  • The specific effect size for rs11701104 alone was not reported in the available study; it is understood as part of a broad multi-locus signal.
  • This evidence comes from a single large study; independent replication for this specific variant has not been documented in the available sources.

Key takeaways

  • rs11701104, near the RUNX1 (runt-related transcription factor 1) and RUNX1-AS1 (RUNX1 antisense RNA 1) genes, has been associated with male pattern baldness in a large genome-wide association study.
  • The study analyzed more than 52,000 men aged 40-69 from the UK Biobank, finding over 250 independent loci significantly linked to severe hair loss.
  • Common genetic variants collectively explain roughly 50% of the variation in male pattern baldness.
  • A polygenic prediction score built from these variants achieved an area under the curve (AUC) of 0.78 for distinguishing severe from no hair loss.
  • The specific effect size for rs11701104 individually was not reported in the available study text, and replication for this locus has not been documented in the provided sources.

What the research says A genome-wide association study (GWAS) of 52,874 men from the UK Biobank cohort identified over 250 independent loci associated with severe male pattern baldness at genome-wide significance (P < 5 x 10^-8), with the RUNX1 and RUNX1-AS1 region (where rs11701104 is located) among the genomic regions implicated. The SNP-based (single-nucleotide polymorphism) heritability of male pattern baldness was estimated at approximately 50% from common variants, consistent with earlier twin-based estimates of around 80% total heritability. A polygenic score derived from a discovery sample of 40,000 men discriminated severe from no hair loss with AUC = 0.78, sensitivity = 0.74, specificity = 0.69, positive predictive value (PPV) = 59%, and negative predictive value (NPV) = 82% when tested in a held-out validation sample of 12,000 men.

Reported associations

  • Male pattern baldness (severe): This locus was among more than 250 independent signals identified at genome-wide significance (P < 5 x 10^-8) in a GWAS of 52,874 UK Biobank men aged 40-69. An individual effect size for rs11701104 was not reported in the available study text.

Evidence quality The GWAS included 52,874 men from the UK Biobank, split into a discovery sample (n=40,000) and a validation sample (n=12,000), making it one of the largest studies of male pattern baldness at the time of publication. Over 250 independent loci reached genome-wide significance (P < 5 x 10^-8), and prediction accuracy was internally validated with AUC = 0.78. However, the available study text does not report an individual odds ratio, beta coefficient, or p-value for rs11701104 specifically. Replication of this specific locus in independent cohorts is not documented in the provided text. The study-level evidence is robust given the large sample and strict significance threshold, but variant-level evidence for this SNP individually should be considered preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs11701104 associated with?

rs11701104, located near the RUNX1 and RUNX1-AS1 genes, has been associated with male pattern baldness in a large genome-wide study of over 52,000 men from the UK Biobank.

What are the RUNX1 and RUNX1-AS1 genes?

The study that identified this variant does not describe the specific biological functions of RUNX1 or RUNX1-AS1 in relation to hair biology. These genes define the genomic region where rs11701104 is located.

How strongly does rs11701104 affect hair loss risk?

An individual effect size for rs11701104 was not reported in the available study. It is one of over 250 loci, and their combined signal achieved a prediction accuracy of around 78% for distinguishing severe from no hair loss.

Is male pattern baldness genetic?

Research suggests genetics plays a large role. Common genetic variants explain roughly 50% of the variation in male pattern baldness, while twin studies have estimated total genetic contribution at around 80%.

How accurate is genetic prediction of male pattern baldness?

A polygenic score combining more than 250 genetic loci achieved an AUC of 0.78 for distinguishing men with severe hair loss from those with none, with sensitivity of 74% and specificity of 69% in a validation sample of 12,000 men.