Multiple Rare Variants as a Cause of a Common Phenotype: Several Different Lactase Persistence Associated Alleles in a Single Ethnic Group

@article{Ingram2009MultipleRV,
  title={Multiple Rare Variants as a Cause of a Common Phenotype: Several Different Lactase Persistence Associated Alleles in a Single Ethnic Group},
  author={Catherine J. E. Ingram and Tamiru Oljira Raga and Ayele Tarekegn and Sarah L. Browning and Mohamed F. Elamin and Endashaw Bekele and Mark George Thomas and Michael E. Weale and Neil Bradman and Dallas M. Swallow},
  journal={Journal of Molecular Evolution},
  year={2009},
  volume={69},
  pages={579-588}
}
Persistence of intestinal lactase into adulthood allows humans to use milk from other mammals as a source of food and water. This genetic trait has arisen by convergent evolution and the derived alleles of at least three different single nucleotide polymorphisms (–13910C>T, –13915T>G, –14010G>C) are associated with lactase persistence in different populations. Each allele occurs on an extended haplotype, consistent with positive directional selection. The SNPs are located in an ‘enhancer… 
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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