Functional significance of single nucleotide polymorphisms in the lactase gene in diverse US patients and evidence for a novel lactase persistence allele at -13909 in those of European ancestry.

doi:10.1097/MPG.0000000000000595

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Article

Functional significance of single nucleotide polymorphisms in the lactase gene in diverse US patients and evidence for a novel lactase persistence allele at -13909 in those of European ancestry.

Journal of pediatric gastroenterology and nutrition - 1 Feb 2015

Baffour-Awuah Nana Yaa, Fleet Sarah, Montgomery Robert K, Baker Susan S, Butler Johannah L, Campbell Catarina, Tischfield Samuel, Mitchell Paul D, Allende-Richter Sophie, Moon Jennifer E, Fishman Laurie, Bousvaros Athos, Fox Victor, Kuokkanen Mikko, Grand Richard J, Hirschhorn Joel N

Abstract excerpt

OBJECTIVES: Recent data from mainly homogeneous European and African populations implicate a 140-bp region 5' to the transcriptional start site of LCT (the lactase gene) as a regulatory site for lactase persistence and nonpersistence. Because there are no studies of US nonhomogeneous populations, we performed genotype/phenotype analysis of the -13910 and -22018 LCT single nucleotide polymorphisms (SNPs) in New...

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PMID: 25625576
DOI: 10.1097/MPG.0000000000000595
PMCID: PMC4308731

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