B4080 - Does LCT predict milk consumption - 30/05/2022

B number: 
Principal applicant name: 
David A Hughes | University of Bristol MRC-IEU (UK)
Professor Nicholas Timpson
Title of project: 
Does LCT predict milk consumption
Proposal summary: 

A single genetic variant (rs4988235) found in the intron of a the gene MCM6 and located -13,910 base pairs from the gene LCT controls the expression of LCT and the production of lactase, an enzyme required to digest lactose sugar commonly found in fresh milk products. In the ancestral state once infants are weened from breast milk the expression of LCT stops, but in some global human populations, including Europeans, the expression of LCT persists into adulthood and throughout one's life leading to what is commonly referred to as lactase persistence. Here we wish to ask if the genetic variant rs4988235 perviously associated with lactase persistence influences milk consumption in ALSPAC mothers.

Impact of research: 
It will help inform on the direct effect that genotype has on phenotype, a genotype that has been the topic of a great deal of discussion given it is perhaps the best example of local positive selection in humans to date.
Date proposal received: 
Thursday, 26 May, 2022
Date proposal approved: 
Monday, 30 May, 2022
Genetic epidemiology (including association studies and mendelian randomisation), lactose intolerance, Statistical methods, Genetic epidemiology, Genetics