rs4988235 - Lactase Persistence - Can You Digest Milk?
Gene: MCM6 (LCT regulation)
rs4988235 controls whether you continue producing the lactase enzyme into adulthood. The ancestral G allele leads to declining lactase production after weaning (lactose intolerance). The derived A allele maintains lactase expression throughout life.
Genotype Interpretations
Lactose tolerant - you produce lactase throughout life. Dairy is fine
Likely lactose tolerant - one copy is usually sufficient for full lactase expression
Lactose intolerant - lactase production declines after childhood. Dairy may cause bloating, gas, and diarrhea
Population Context
Lactase persistence evolved independently in at least 5 populations with dairy herding traditions. The European variant (rs4988235-A) spread ~7,500 years ago with cattle domestication. Different variants cause lactase persistence in East African (rs145946881) and Middle Eastern populations.
Clinical Relevance
GG individuals should consider lactose-free dairy alternatives or lactase supplements. Calcium and vitamin D intake should be monitored if avoiding dairy.
Sources
- [1] Enattah NS et al. (2002) Nat Genet 30:233-7
- [2] Itan Y et al. (2009) PLoS Comput Biol 5:e1000491
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