Schumann · Proceedings of the National Academy of Sciences of the United States of America 2016 · Genome-wide association meta-analysis and animal experiment · n=>105,000

KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference.

Cited 255 times in the scientific literature.

Level 3 - non-randomized controlled study

Genome-wide association meta-analysis of observational cohort data combined with mechanistic animal models

PubMed 27911795 · doi:10.1073/pnas.1611243113 · record verified 2026-08-29

What was done

Researchers conducted a genome-wide association study (GWAS) meta-analysis and replication study of alcohol consumption among >105,000 individuals of European ancestry. They followed up the top genetic finding by examining alcohol preference in brain-specific beta-Klotho knockout mice and testing the effect of the liver-derived hormone FGF21 on mouse alcohol intake.

What was found

The meta-analysis identified a genome-wide significant association between alcohol consumption and a locus in the *KLB* (beta-Klotho) gene (rs11940694, P = 9.2 × 10^-12). In functional mouse experiments, brain-specific beta-Klotho knockout mice demonstrated increased alcohol preference, and FGF21 was shown to inhibit alcohol drinking via central actions requiring brain beta-Klotho.

Why it matters

These findings delineate a liver-brain endocrine axis regulating alcohol intake, identifying beta-Klotho and FGF21 signaling as potential pharmacological targets for mitigating excessive alcohol consumption.

Limits

The human genetic analysis was restricted to individuals of European ancestry, limiting generalizability to other populations. Specific effect sizes on human drinking volume were not reported in the abstract, and therapeutic efficacy of modulating this pathway in humans remains unproven.

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