rs11802047 (HLX): Height-Linked Genetic Variant

Key takeaways

• rs11802047 is located near HLX and LINC02817 and is one of 12,111 common variants found to be significantly associated with adult human height.
• The evidence comes from a study of 5.4 million people across five ancestry groups, the largest height genetics study ever conducted.
• Together, the 12,111 variants explain about 40-45% of height variation in people of European ancestry.
• Height-related effect sizes appear broadly similar across ancestry groups, though genetic prediction is less accurate in non-European populations.
• No individual effect size for rs11802047 is available in the current study data.

What the research says rs11802047 is in the genomic region near HLX and LINC02817, and is one of 12,111 independent SNPs identified as significantly associated with adult height in a genome-wide association study (GWAS, a method that scans hundreds of thousands of genetic positions across the genome simultaneously) of 5,380,080 individuals drawn from 281 studies. Together, the 12,111 variants account for nearly all of the common-variant heritability for height, explaining approximately 40% of height variance in European ancestry populations, or 45% when all variants in the HapMap 3 reference panel are included. Effect sizes and associated genomic regions were similar across five major ancestry groups, though prediction accuracy was substantially lower outside European ancestry populations, ranging from about 10-24% of explained variance, which the authors attribute to differences in linkage disequilibrium (the tendency of nearby genetic variants to be inherited together) and allele frequencies rather than to different underlying biology.

Reported associations

• Adult human height: rs11802047 is among 12,111 common SNPs reaching genome-wide significance for association with adult height in a meta-analysis of 5,380,080 individuals across five ancestry groups; no per-allele effect size for this specific SNP is reported in the available study text.

Evidence quality The supporting study is a meta-analysis of 281 studies encompassing up to 5,380,080 individuals, representing the largest height GWAS conducted as of its publication in Nature (2022). The discovery sample was approximately 76% European ancestry, 9% East Asian, 9% Hispanic, 6% African, and 1% South Asian. The 12,111 identified SNPs, which include the HLX-LINC02817 locus, met genome-wide significance thresholds and together were shown to account for nearly all common SNP-based heritability for height, satisfying a saturation criterion set by the authors. No specific p-value or individual effect size for rs11802047 appears in the provided study text. No conflicting findings are reported within this study, though the authors note reduced predictive performance in non-European ancestry populations and call for additional research to achieve equivalent saturation in those groups.

Lifestyle considerations No lifestyle considerations on file for this variant.