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. 2019 Aug 19;68(11):2080–2091. doi: 10.1136/gutjnl-2019-318404

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© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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Genetics of lactose malabsorption. (A) Organisation of the lactase genetic locus on chromosome 2. The positions of the lactase gene (LCT) and the neighbouring genes aspartyl-tRNA synthetase (DARS), minichromosome maintenance complex component 6 (MCM6) and UBX domain-containing protein 4 (UBXN4) are indicated. Polymorphisms relevant for lactose malabsorption are located within intron 13 of the MCM6 gene, upstream of the lactase gene. (B) Differential levels of methylation of intron 13 of MCM6 and the LCT gene in individuals with genetic lactose malabsorption (LCT −13910:C/C), lactose tolerance (LCT −13910:T/T) and the clinically silent, physiologically intermediate genotype LCT −13910:C/T. Hypermethylation (red colour) results in genetic silencing of the respective gene. (Source: From Labrie et al ²⁶).