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

Carlos Alessandro Fuzo; Fábio da Veiga Ued; Sofia Moco; Ornella Cominetti; Sylviane Métairon; Solenn Pruvost; Aline Charpagne; Jerome Carayol; Raul Torrieri; Wilson Araujo Silva Jr; Patrick Descombes; Jim Kaput; Jacqueline Pontes Monteiro

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, Fábio da Veiga Ued, Sofia Moco, Ornella Cominetti, Sylviane Métairon, Solenn Pruvost, Aline Charpagne, Jerome Carayol, Raul Torrieri, Wilson Araujo Silva Jr, Patrick Descombes, Jim Kaput, Jacqueline Pontes Monteiro

Research output: Contribution to Journal › Article › Academic › peer-review

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.

Original language	English
Article number	11992
Pages (from-to)	11992
Journal	Scientific Reports
Volume	11
Issue number	1
DOIs	https://doi.org/10.1038/s41598-021-91530-7
Publication status	Published - 7 Jun 2021

Funding

Funding was provided by the Nestle Research (Lausanne, Switzerland) (contract reference RDHS 000054) and by Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) (Process 2012/20421-8). This manuscript is the 10th publication from this study.

Funders	Funder number
Nestle Research	RDHS 000054
Fundação de Amparo à Pesquisa do Estado de São Paulo	2012/20421-8

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Fuzo, C. A., da Veiga Ued, F., Moco, S., Cominetti, O., Métairon, S., Pruvost, S., Charpagne, A., Carayol, J., Torrieri, R., Araujo Silva Jr, W., Descombes, P., Kaput, J., & Monteiro, J. P. (2021). Contribution of genetic ancestry and polygenic risk score in meeting vitamin B12 needs in healthy Brazilian children and adolescents. Scientific Reports, 11(1), 11992. Article 11992. https://doi.org/10.1038/s41598-021-91530-7

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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.",

author = "Fuzo, {Carlos Alessandro} and {da Veiga Ued}, F{\'a}bio and Sofia Moco and Ornella Cominetti and Sylviane M{\'e}tairon and Solenn Pruvost and Aline Charpagne and Jerome Carayol and Raul Torrieri and {Araujo Silva Jr}, Wilson and Patrick Descombes and Jim Kaput and Monteiro, {Jacqueline Pontes}",

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Fuzo, CA, da Veiga Ued, F, Moco, S, Cominetti, O, Métairon, S, Pruvost, S, Charpagne, A, Carayol, J, Torrieri, R, Araujo Silva Jr, W, Descombes, P, Kaput, J & Monteiro, JP 2021, 'Contribution of genetic ancestry and polygenic risk score in meeting vitamin B12 needs in healthy Brazilian children and adolescents', Scientific Reports, vol. 11, no. 1, 11992, pp. 11992. https://doi.org/10.1038/s41598-021-91530-7

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AU - Fuzo, Carlos Alessandro

AU - da Veiga Ued, Fábio

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AU - Cominetti, Ornella

AU - Métairon, Sylviane

AU - Pruvost, Solenn

AU - Charpagne, Aline

AU - Carayol, Jerome

AU - Torrieri, Raul

AU - Araujo Silva Jr, Wilson

AU - Descombes, Patrick

AU - Kaput, Jim

AU - Monteiro, Jacqueline Pontes

PY - 2021/6/7

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JO - Scientific Reports

JF - Scientific Reports

IS - 1

M1 - 11992

ER -

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

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