rs11134701 (FGF18-SMIM23): Height variant

Key takeaways

• rs11134701 is a common genetic variant in the FGF18 - SMIM23 genomic region, identified as one of 12,111 SNPs associated with adult human height in a study of 5.4 million people
• Discovered using data from five ancestry groups across 281 cohorts, one of the most comprehensively powered genetic studies ever conducted
• The full catalog of 12,111 height-associated variants explains approximately 40% of height differences in people of European ancestry
• These same variants explain only about 10-20% of height variation in non-European ancestry populations, due to differences in how genetic variants are inherited and how common they are across groups
• No drug interactions or lifestyle considerations have been documented for this specific variant

What the research says A genome-wide association study (a GWAS, which scans hundreds of thousands of genetic positions simultaneously to identify those statistically linked to a trait) enrolling 5.4 million individuals identified 12,111 independent variants significantly associated with adult height, including rs11134701 in the FGF18 - SMIM23 genomic region. These associated variants cluster into 7,209 non-overlapping genomic segments averaging approximately 90 kilobases (about 90,000 base pairs of DNA) in size, covering roughly 21% of the human genome. Collectively, these common variants account for approximately 40% of phenotypic variance in height (the measurable share of height differences between individuals that is linked to inherited genetic factors) in European-ancestry populations, rising to 45% when all variants in the HapMap 3 reference panel are included.

Reported associations

• Adult height: rs11134701, at this locus, was identified among 12,111 independent SNPs (single-nucleotide polymorphisms, meaning one-letter differences in the DNA sequence) significantly associated with adult height in a GWAS of 5.4 million individuals; the full variant set explains approximately 40% of common-variant heritability of height (the proportion of height differences between people that is attributable to inherited common genetic variants) in European-ancestry samples (45% using the full HapMap 3 panel) and roughly 10-20% in non-European ancestry groups

Evidence quality The association evidence derives from 5.4 million participants across 281 cohorts, representing five broad ancestry groups: approximately 75.8% European, 8.8% East Asian, 8.5% Hispanic admixed, 5.5% predominantly African, and 1.4% South Asian. This scale makes the identified height-associated regions, including this locus, statistically well-powered and unlikely to reflect false positives. However, the specific effect size for rs11134701 in isolation, for example the average height difference between individuals carrying different versions of this variant, is not reported in the available study text. Effect sizes and associated regions are broadly consistent across ancestry groups, but prediction accuracy is substantially lower outside European-ancestry populations; the study authors attribute this gap to differences in linkage disequilibrium (the tendency of nearby genetic variants to be co-inherited as a unit) and allele frequency (how common a given variant is in a population) across populations. No conflicting findings are present in the single study reviewed, though the limited prediction accuracy in non-European groups is a noted limitation.

Lifestyle considerations No lifestyle considerations on file for this variant.