Table 3

Genetic variations affecting lactase persistence and LM1

Mutation associated with lactase persistenceGeographic regionSNP
LCT −13’910:T*Northern Europers4988235
LCT −13’915:GMiddle Eastrs41380347
LCT −13’907:GEthiopia and Sudanrs41525747
LCT −14’009:GEthiopia and Sudanrs820486563
LCT −14’010:CKenya, Tanzania and South Africars145946881
  • *This mutation is in strong linkage disequilibrium with the LCT −22’018-A mutation. Mechanistic evidence indicates that the −13’910 mutation is responsible for lactase persistence.

  • LM,  lactose malabsorption;  SNP,  single nucleotide polymorphism.

  • Source: Adapted from Segurel and Bon 1