Association of the Lactase Persistence Haplotype Block With Disease Risk in Populations of European Descent.
diet
human evolution
lactose
lactose tolerance
phenotype
physiological traits
population genetics
selective sweep
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2020
2020
Historique:
received:
04
05
2020
accepted:
08
10
2020
entrez:
16
11
2020
pubmed:
17
11
2020
medline:
17
11
2020
Statut:
epublish
Résumé
Among people of European descent, the ability to digest lactose into adulthood arose via strong positive selection of a highly advantageous allele encompassing the lactase gene. Lactose-tolerant and intolerant individuals may have different disease risks due to the shared genetics of their haplotype block. Therefore, the overall objective of the study was to assess the genetic association of the lactase persistence haplotype to disease risk. Using data from the 1000Genomes project, we estimated the size of the lactase persistence haplotype block to be 1.9 Mbp containing up to 9 protein-coding genes and a microRNA. Based on the function of the genes and microRNA, we studied health phenotypes likely to be impacted by the lactase persistence allele: prostate cancer status, cardiovascular disease status, and bone mineral density. We used summary statistics from large genome-wide metanalyses-32,965 bone mineral density, 140,306 prostate cancer and 184,305 coronary artery disease subjects-to evaluate whether the lactase persistence allele was associated with these disease phenotypes. Despite the fact that previous work demonstrated that the lactase persistence haplotype block harbors increased deleterious mutations, these results suggest little effect on the studied disease phenotypes.
Identifiants
pubmed: 33193640
doi: 10.3389/fgene.2020.558762
pmc: PMC7658388
doi:
Types de publication
Journal Article
Langues
eng
Pagination
558762Subventions
Organisme : NHLBI NIH HHS
ID : HHSN268201200008C
Pays : United States
Organisme : NHLBI NIH HHS
ID : HHSN268201200008I
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA188392
Pays : United States
Organisme : NCI NIH HHS
ID : U19 CA148537
Pays : United States
Informations de copyright
Copyright © 2020 Joslin, Durbin-Johnson, Britton, Settles, Korf and Lemay.
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