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. 2021 Jun 7;11(1):11992.
doi: 10.1038/s41598-021-91530-7.

Contribution of genetic ancestry and polygenic risk score in meeting vitamin B12 needs in healthy Brazilian children and adolescents

Carlos Alessandro Fuzo  1 , Fábio da Veiga Ued  2 , Sofia Moco  3 , Ornella Cominetti  4 , Sylviane Métairon  4 , Solenn Pruvost  4 , Aline Charpagne  4   5 , Jerome Carayol  4 , Raul Torrieri  6 , Wilson Araujo Silva Jr  7 , Patrick Descombes  4 , Jim Kaput  4   8 , Jacqueline Pontes Monteiro  9
Affiliations

Contribution of genetic ancestry and polygenic risk score in meeting vitamin B12 needs in healthy Brazilian children and adolescents

Carlos Alessandro Fuzo et al. Sci Rep. .

Abstract

Polymorphisms in genes related to the metabolism of vitamin B12 haven't been examined in a Brazilian population. To (a) determine the correlation between the local genetic ancestry components and vitamin B12 levels using ninety B12-related genes; (b) determine associations between these genes and their SNPs with vitamin B12 levels; (c) determine a polygenic risk score (PRS) using significant variants. This cross-sectional study included 168 children and adolescents, aged 9-13 years old. Total cobalamin was measured in plasma. Genotyping arrays and whole exome data were combined to yield ~ 7000 SNPs in 90 genes related to vitamin B12. The Efficient Local Ancestry Inference was used to estimate local ancestry for African (AFR), Native American, and European (EUR). The association between the genotypes and vitamin B12 levels were determined with generalized estimating equation. Vitamin B12 levels were driven by positive (EUR) and negative (AFR, AMR) correlations with genetic ancestry. A set of 36 variants were used to create a PRS that explained 42% of vitamin level variation. Vitamin B12 levels are influenced by genetic ancestry and a PRS explained almost 50% of the variation in plasma cobalamin in Brazilian children and adolescents.

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Conflict of interest statement

J.K. was employee at Nestlé Research and participated in the experimental design of the study and in writing the final manuscript. He is currently employed by Vydiant, Folson, CA, USA. S.M., J.C., O.C., S.M., S.P., A.C. and P.D. are employees of Nestlé Research and did not participate in the experimental design. All the others authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Ancestry results of three-way admixture AFR, AMR, and EUR. Mean local ancestry for individuals alongside autosomal chromosomes (a). Results of 10,000 permutations per each correlation between three-way local ancestry for (b) genes in Table 1 and vitamin B12 baseline levels. The position of the gene is designated by the vertical line (magenta). White cells indicate no significant correlation at pperm < 0.1.
Figure 2
Figure 2
Heatmap of 36 variants associated with baseline vitamin B12 levels. BB is minor allele (a). PRS regression to vitamin B12 levels (b). Individuals in ascending order of PRS (c).
Figure 3
Figure 3
26 genes in a protein–protein association network for vitamin B12, using String.
Figure 4
Figure 4
Hypothetical proposed nutritional counseling for vitamin B12 intake based on PRS terciles, nutritional and demographic data.
See this image and copyright information in PMC

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References

    1. Pavlovic M, Prentice A, Thorsdottir I, Wolfram G, Branca F. Challenges in harmonizing energy and nutrient recommendations in Europe. Ann. Nutr. Metab. 2007;51:108–114. doi: 10.1159/000102458. - DOI - PubMed
    1. Institute of Medicine. The Development of DRIs 1994–2004: Lessons Learned and New Challenges: Workshop Summary (National Academies Press, 2008).
    1. Committee DGA. Scientific Report of the 2020 Dietary Guidelines Advisory Committee Advisory Report to the Secretary of Agriculture and Secretary of Health and Human Services. U.S. Department of Agriculture; 2020.
    1. Monteiro JP, Kussmann M, Kaput J. The genomics of micronutrient requirements. Genes Nutr. 2015;10:466. doi: 10.1007/s12263-015-0466-2. - DOI - PMC - PubMed
    1. Van Ommen B, et al. The Micronutrient Genomics Project: A community-driven knowledge base for micronutrient research. Genes Nutr. 2010;5:285–296. doi: 10.1007/s12263-010-0192-8. - DOI - PMC - PubMed

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