Identification of a variant associated with adult-type hypolactasia

By N. Enattah, T. Sahi, E. Savilahti, J. Terwilliger, L. Peltonen, I. Järvelä. Nature Genetics, 2002

879 citations recorded by the source corpus.

Subfields: Endocrinology, Diabetes and Metabolism, Genetics, Pathology and Forensic Medicine

View Paper: https://www.semanticscholar.org/paper/4c35aab675f6626d4461e0541e02610d3dc104c2

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

Citations in the corpus

Genetics of Lactase Persistence and Lactose Intolerance (2008, background): “They found a CT SNP at –14 kb in complete association with lactase persistence in the Finns from the original extended families (66) (n = 145, phenotyped by lactose tolerance) as well as unrelated individuals (n = 196, phenotyped by lactase assay) (12); the T allele was present in all persistent ind”
Mendelian randomization: Using genes as instruments for making causal inferences in epidemiology (2008, neutral): “ALDH2 null variant, which is associated with alcohol consumption (individuals who are homozygous for the allele, resulting in inefficient breakdown of acetaldehyde, have severe adverse reactions to alcohol consumption and therefore tend to drink very little) [94]; lactase-persistence variants, which”
Genetic signatures of strong recent positive selection at the lactase gene. (2004, background): “To examine the evidence for selection, we began by genotyping the two SNPs that were recently reported to be very tightly associated with lactase persistence (Enattah et al. 2002): rs4988235 ( 13910CrT) and rs182549 ( 22018GrA).”
The Genetics of Human Adaptation: Hard Sweeps, Soft Sweeps, and Polygenic Adaptation (2010, positive): “For example, it appears that several mutations in an upstream enhancer of lactase cause lifelong expression of the lactase gene [27,76].”
The Diploid Genome Sequence of an Individual Human (2007, background): “For example, the donor’s LCT genotype should confer adult lactose tolerance according to published literature [81], but this does not match with the self-reported phenotype of the donor’s lactose intolerance.”
Long-range control of gene expression: emerging mechanisms and disruption in disease. (2005, background): “One of the first to be identified was the ancient polymorphism for lactase persistence (MIM 223100) (Enattah et al. 2002), which allows a high proportion of adults in European populations to digest milk.”
The Origins of Lactase Persistence in Europe (2009, background): “91 kb upstream from the lactase gene [5].”