Characterization of Genetic Variants in the SLC5A5 Gene and Associations With Breast Milk Iodine Concentration in Lactating Women of African Descent: The NUPED Study

Background: The sodium iodide symporter is responsible for the transfer of iodine into breast milk and is encoded for by the SLC5A5 gene. The role of genetic variants in the SLC5A5 gene locus in relation to the transfer of iodine from plasma into breast milk in healthy lactating individuals has, to...

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Main Authors: Sicelosethu S. Siro, Jeannine Baumgartner, Maryke Schoonen, Jennifer Ngounda, Linda Malan, Elizabeth A. Symington, Cornelius M. Smuts, Lizelle Zandberg
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Nutrition
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fnut.2021.692504/full
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author Sicelosethu S. Siro
Jeannine Baumgartner
Jeannine Baumgartner
Maryke Schoonen
Jennifer Ngounda
Linda Malan
Elizabeth A. Symington
Cornelius M. Smuts
Lizelle Zandberg
author_facet Sicelosethu S. Siro
Jeannine Baumgartner
Jeannine Baumgartner
Maryke Schoonen
Jennifer Ngounda
Linda Malan
Elizabeth A. Symington
Cornelius M. Smuts
Lizelle Zandberg
author_sort Sicelosethu S. Siro
collection DOAJ
description Background: The sodium iodide symporter is responsible for the transfer of iodine into breast milk and is encoded for by the SLC5A5 gene. The role of genetic variants in the SLC5A5 gene locus in relation to the transfer of iodine from plasma into breast milk in healthy lactating individuals has, to our knowledge, not been explored.Objective: To identify and characterize possible genetic variants of the SLC5A5 gene in women of African descent living in urban South Africa, and to study associations with breast milk iodine concentrations (BMIC) in lactating women.Methods: This study is affiliated to the Nutrition during Pregnancy and Early Development (NuPED) cohort study (n = 250 enrolled pregnant women). In a randomly selected sub-sample of 32 women, the SLC5A5 gene was sequenced to identify known and novel variants. Of the identified variants, genotyping of selected variants was performed in all pregnant women who gave consent for genetic analyses (n = 246), to determine the frequency of the variants in the study sample. Urinary iodine concentration (UIC) in spot urine samples and BMIC were measured to determine iodine status. Associations of SLC5A5 genetic variants with BMIC were studied in lactating women (n = 55).Results: We identified 27 variants from sequencing of gene exomes and 10 variants were selected for further study. There was a significant difference in BMIC between the genotypes of the rs775249401 variant (P = 0.042), with the homozygous GG group having lower BMIC [86.8 (54.9–167.9) μg/L] compared to the (A) allele carriers rs775249401(AG+AA) [143.9 (122.4–169.3) μg/L] (P = 0.042). Of the rs775249401(GG), 49% had UIC <100 μg/L and 61% had BMIC <100 μg/L. On the other hand, 60% of the rs775249401(AG+AA) carriers had UIC <100 μg/L, and none had a BMIC <100 μg/L.Conclusion: Our results suggest that A-allele carriers of rs775249401(AG+AA) are likely to have higher iodine transfer into breast milk compared to the homozygous GG counterparts. Thus, genetic variations in the SLC5A5 gene may play an important role in the transfer of iodine from plasma into breast milk and may partially explain inter-individual variability in BMIC.
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spelling doaj.art-5391c6b4aa924c34882844c78bd910ae2022-12-21T22:46:30ZengFrontiers Media S.A.Frontiers in Nutrition2296-861X2021-07-01810.3389/fnut.2021.692504692504Characterization of Genetic Variants in the SLC5A5 Gene and Associations With Breast Milk Iodine Concentration in Lactating Women of African Descent: The NUPED StudySicelosethu S. Siro0Jeannine Baumgartner1Jeannine Baumgartner2Maryke Schoonen3Jennifer Ngounda4Linda Malan5Elizabeth A. Symington6Cornelius M. Smuts7Lizelle Zandberg8Centre of Excellence for Nutrition, North-West University, Potchefstroom, South AfricaCentre of Excellence for Nutrition, North-West University, Potchefstroom, South AfricaHuman Nutrition Laboratory, Department of Health Sciences and Technology, Institute of Food, Nutrition and Health, ETH Zurich, Zurich, SwitzerlandCentre of Excellence for Nutrition, North-West University, Potchefstroom, South AfricaDepartment of Nutrition and Dietetics, University of the Free State, Bloemfontein, South AfricaCentre of Excellence for Nutrition, North-West University, Potchefstroom, South AfricaDepartment of Life and Consumer Sciences, University of South Africa, Johannesburg, South AfricaCentre of Excellence for Nutrition, North-West University, Potchefstroom, South AfricaCentre of Excellence for Nutrition, North-West University, Potchefstroom, South AfricaBackground: The sodium iodide symporter is responsible for the transfer of iodine into breast milk and is encoded for by the SLC5A5 gene. The role of genetic variants in the SLC5A5 gene locus in relation to the transfer of iodine from plasma into breast milk in healthy lactating individuals has, to our knowledge, not been explored.Objective: To identify and characterize possible genetic variants of the SLC5A5 gene in women of African descent living in urban South Africa, and to study associations with breast milk iodine concentrations (BMIC) in lactating women.Methods: This study is affiliated to the Nutrition during Pregnancy and Early Development (NuPED) cohort study (n = 250 enrolled pregnant women). In a randomly selected sub-sample of 32 women, the SLC5A5 gene was sequenced to identify known and novel variants. Of the identified variants, genotyping of selected variants was performed in all pregnant women who gave consent for genetic analyses (n = 246), to determine the frequency of the variants in the study sample. Urinary iodine concentration (UIC) in spot urine samples and BMIC were measured to determine iodine status. Associations of SLC5A5 genetic variants with BMIC were studied in lactating women (n = 55).Results: We identified 27 variants from sequencing of gene exomes and 10 variants were selected for further study. There was a significant difference in BMIC between the genotypes of the rs775249401 variant (P = 0.042), with the homozygous GG group having lower BMIC [86.8 (54.9–167.9) μg/L] compared to the (A) allele carriers rs775249401(AG+AA) [143.9 (122.4–169.3) μg/L] (P = 0.042). Of the rs775249401(GG), 49% had UIC <100 μg/L and 61% had BMIC <100 μg/L. On the other hand, 60% of the rs775249401(AG+AA) carriers had UIC <100 μg/L, and none had a BMIC <100 μg/L.Conclusion: Our results suggest that A-allele carriers of rs775249401(AG+AA) are likely to have higher iodine transfer into breast milk compared to the homozygous GG counterparts. Thus, genetic variations in the SLC5A5 gene may play an important role in the transfer of iodine from plasma into breast milk and may partially explain inter-individual variability in BMIC.https://www.frontiersin.org/articles/10.3389/fnut.2021.692504/fullbreast milkiodine concentrationlactating womenSLC5A5 genesodium iodide symporterurinary iodine concentration
spellingShingle Sicelosethu S. Siro
Jeannine Baumgartner
Jeannine Baumgartner
Maryke Schoonen
Jennifer Ngounda
Linda Malan
Elizabeth A. Symington
Cornelius M. Smuts
Lizelle Zandberg
Characterization of Genetic Variants in the SLC5A5 Gene and Associations With Breast Milk Iodine Concentration in Lactating Women of African Descent: The NUPED Study
Frontiers in Nutrition
breast milk
iodine concentration
lactating women
SLC5A5 gene
sodium iodide symporter
urinary iodine concentration
title Characterization of Genetic Variants in the SLC5A5 Gene and Associations With Breast Milk Iodine Concentration in Lactating Women of African Descent: The NUPED Study
title_full Characterization of Genetic Variants in the SLC5A5 Gene and Associations With Breast Milk Iodine Concentration in Lactating Women of African Descent: The NUPED Study
title_fullStr Characterization of Genetic Variants in the SLC5A5 Gene and Associations With Breast Milk Iodine Concentration in Lactating Women of African Descent: The NUPED Study
title_full_unstemmed Characterization of Genetic Variants in the SLC5A5 Gene and Associations With Breast Milk Iodine Concentration in Lactating Women of African Descent: The NUPED Study
title_short Characterization of Genetic Variants in the SLC5A5 Gene and Associations With Breast Milk Iodine Concentration in Lactating Women of African Descent: The NUPED Study
title_sort characterization of genetic variants in the slc5a5 gene and associations with breast milk iodine concentration in lactating women of african descent the nuped study
topic breast milk
iodine concentration
lactating women
SLC5A5 gene
sodium iodide symporter
urinary iodine concentration
url https://www.frontiersin.org/articles/10.3389/fnut.2021.692504/full
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