Associations between single nucleotide polymorphisms and erythrocyte parameters in humans

A systematic literature review

Tiffany Timmer, Michael W.t. Tanck, Elisabeth Huis in 't Veld, Barbera Veldhuisen, Joost G. Daams, Wim L.a.m. De Kort, C. Ellen Van Der Schoot, Katja Van Den Hurk

Research output: Contribution to journalReview articleScientificpeer-review

Abstract

Individual variations in erythrocyte parameters are influenced by factors like sex, age, diet and season. Genetic variations have also been associated with erythrocyte parameters. The aim of this systematic review is to provide an overview of associations between single nucleotide polymorphisms (SNPs) and erythrocyte parameters in humans. A systematic review protocol was published at the international prospective register of systematic reviews (registration number CRD42016053052). Literature searches were conducted in Medline and Embase. Studies were included if: investigating a(n) causality/association/correlation; population-based; investigating a human population of Caucasian/mixed-ethnic descent; and written in English, Dutch or German. Study quality was assessed using the quality of genetic association studies tool. In total, 4385 studies were screened on title/abstract and 194 studies were screened on full text. Inclusion criteria were met by 13 candidate gene studies (n = 126-49,488) and eight genome-wide association studies (GWASes, n = 1664-116,666). One moderate and six good quality GWAS(es) identified 1237 SNPs located in/near 241 genes. SNPs in/near ten genes were found to be associated with one or more erythrocyte parameter(s) by multiple GWASes, namely HIST1H2AC, MPST, SLC17A1 and SLC17A3 with mean cell hemoglobin (MCH), HIST1H1T and KCTD17 with MCH and mean cell volume (MCV), HBS1L and MYB with MCH, MCV and red cell count (RCC), HFE with MCH, MCV and hemoglobin, and TMPRSS6 with MCH, MCV, hemoglobin and mean cell hemoglobin concentration (MCHC). Four genes were found across multiple erythrocyte parameters by one study in each parameter. Fourteen SNPs were associated with one or more erythrocyte parameter(s) in multiple cohorts, namely rs129128, rs17342717, rs228129 and rs5756504 (MCH), rs4895441, rs7775698, rs9376092 and rs9494145 (MCH, MCV, RCC), rs6569992 (MCH, RCC), rs1800562 (hemoglobin, MCH, MCV), rs130624 and rs198846 (MCH, MCV), rs4820268 and rs855791 (MCH, MCV, MCHC). Further research on these fourteen genes in erythropoiesis is recommended, especially eight whose role in erythropoiesis is unclear.

Original languageEnglish
Pages (from-to)58-67
Number of pages10
JournalMutation Research/Reviews in Mutation Research
Volume779
DOIs
Publication statusPublished - 1 Jan 2019

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Erythrocyte Indices
Single Nucleotide Polymorphism
Erythropoiesis
Genome-Wide Association Study
Genetic Association Studies

Keywords

  • AGE
  • DIFFERENTIATION
  • DONATION
  • GENE
  • GENOME-WIDE ASSOCIATION
  • Genome-wide association study
  • HEMOCHROMATOSIS
  • HEMOGLOBIN LEVELS
  • HFE MUTATIONS
  • Hematocrit
  • Hemoglobin
  • IRON-DEFICIENCY
  • Red cell count
  • Red cell indices
  • Systematic review
  • WHOLE-BLOOD DONORS

Cite this

Timmer, Tiffany ; Tanck, Michael W.t. ; Huis in 't Veld, Elisabeth ; Veldhuisen, Barbera ; Daams, Joost G. ; De Kort, Wim L.a.m. ; Van Der Schoot, C. Ellen ; Van Den Hurk, Katja. / Associations between single nucleotide polymorphisms and erythrocyte parameters in humans : A systematic literature review. In: Mutation Research/Reviews in Mutation Research. 2019 ; Vol. 779. pp. 58-67.
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Associations between single nucleotide polymorphisms and erythrocyte parameters in humans : A systematic literature review. / Timmer, Tiffany; Tanck, Michael W.t.; Huis in 't Veld, Elisabeth; Veldhuisen, Barbera; Daams, Joost G.; De Kort, Wim L.a.m.; Van Der Schoot, C. Ellen; Van Den Hurk, Katja.

In: Mutation Research/Reviews in Mutation Research, Vol. 779, 01.01.2019, p. 58-67.

Research output: Contribution to journalReview articleScientificpeer-review

TY - JOUR

T1 - Associations between single nucleotide polymorphisms and erythrocyte parameters in humans

T2 - A systematic literature review

AU - Timmer, Tiffany

AU - Tanck, Michael W.t.

AU - Huis in 't Veld, Elisabeth

AU - Veldhuisen, Barbera

AU - Daams, Joost G.

AU - De Kort, Wim L.a.m.

AU - Van Der Schoot, C. Ellen

AU - Van Den Hurk, Katja

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Individual variations in erythrocyte parameters are influenced by factors like sex, age, diet and season. Genetic variations have also been associated with erythrocyte parameters. The aim of this systematic review is to provide an overview of associations between single nucleotide polymorphisms (SNPs) and erythrocyte parameters in humans. A systematic review protocol was published at the international prospective register of systematic reviews (registration number CRD42016053052). Literature searches were conducted in Medline and Embase. Studies were included if: investigating a(n) causality/association/correlation; population-based; investigating a human population of Caucasian/mixed-ethnic descent; and written in English, Dutch or German. Study quality was assessed using the quality of genetic association studies tool. In total, 4385 studies were screened on title/abstract and 194 studies were screened on full text. Inclusion criteria were met by 13 candidate gene studies (n = 126-49,488) and eight genome-wide association studies (GWASes, n = 1664-116,666). One moderate and six good quality GWAS(es) identified 1237 SNPs located in/near 241 genes. SNPs in/near ten genes were found to be associated with one or more erythrocyte parameter(s) by multiple GWASes, namely HIST1H2AC, MPST, SLC17A1 and SLC17A3 with mean cell hemoglobin (MCH), HIST1H1T and KCTD17 with MCH and mean cell volume (MCV), HBS1L and MYB with MCH, MCV and red cell count (RCC), HFE with MCH, MCV and hemoglobin, and TMPRSS6 with MCH, MCV, hemoglobin and mean cell hemoglobin concentration (MCHC). Four genes were found across multiple erythrocyte parameters by one study in each parameter. Fourteen SNPs were associated with one or more erythrocyte parameter(s) in multiple cohorts, namely rs129128, rs17342717, rs228129 and rs5756504 (MCH), rs4895441, rs7775698, rs9376092 and rs9494145 (MCH, MCV, RCC), rs6569992 (MCH, RCC), rs1800562 (hemoglobin, MCH, MCV), rs130624 and rs198846 (MCH, MCV), rs4820268 and rs855791 (MCH, MCV, MCHC). Further research on these fourteen genes in erythropoiesis is recommended, especially eight whose role in erythropoiesis is unclear.

AB - Individual variations in erythrocyte parameters are influenced by factors like sex, age, diet and season. Genetic variations have also been associated with erythrocyte parameters. The aim of this systematic review is to provide an overview of associations between single nucleotide polymorphisms (SNPs) and erythrocyte parameters in humans. A systematic review protocol was published at the international prospective register of systematic reviews (registration number CRD42016053052). Literature searches were conducted in Medline and Embase. Studies were included if: investigating a(n) causality/association/correlation; population-based; investigating a human population of Caucasian/mixed-ethnic descent; and written in English, Dutch or German. Study quality was assessed using the quality of genetic association studies tool. In total, 4385 studies were screened on title/abstract and 194 studies were screened on full text. Inclusion criteria were met by 13 candidate gene studies (n = 126-49,488) and eight genome-wide association studies (GWASes, n = 1664-116,666). One moderate and six good quality GWAS(es) identified 1237 SNPs located in/near 241 genes. SNPs in/near ten genes were found to be associated with one or more erythrocyte parameter(s) by multiple GWASes, namely HIST1H2AC, MPST, SLC17A1 and SLC17A3 with mean cell hemoglobin (MCH), HIST1H1T and KCTD17 with MCH and mean cell volume (MCV), HBS1L and MYB with MCH, MCV and red cell count (RCC), HFE with MCH, MCV and hemoglobin, and TMPRSS6 with MCH, MCV, hemoglobin and mean cell hemoglobin concentration (MCHC). Four genes were found across multiple erythrocyte parameters by one study in each parameter. Fourteen SNPs were associated with one or more erythrocyte parameter(s) in multiple cohorts, namely rs129128, rs17342717, rs228129 and rs5756504 (MCH), rs4895441, rs7775698, rs9376092 and rs9494145 (MCH, MCV, RCC), rs6569992 (MCH, RCC), rs1800562 (hemoglobin, MCH, MCV), rs130624 and rs198846 (MCH, MCV), rs4820268 and rs855791 (MCH, MCV, MCHC). Further research on these fourteen genes in erythropoiesis is recommended, especially eight whose role in erythropoiesis is unclear.

KW - AGE

KW - DIFFERENTIATION

KW - DONATION

KW - GENE

KW - GENOME-WIDE ASSOCIATION

KW - Genome-wide association study

KW - HEMOCHROMATOSIS

KW - HEMOGLOBIN LEVELS

KW - HFE MUTATIONS

KW - Hematocrit

KW - Hemoglobin

KW - IRON-DEFICIENCY

KW - Red cell count

KW - Red cell indices

KW - Systematic review

KW - WHOLE-BLOOD DONORS

U2 - 10.1016/j.mrrev.2019.01.002

DO - 10.1016/j.mrrev.2019.01.002

M3 - Review article

VL - 779

SP - 58

EP - 67

JO - Mutation Research/Reviews in Mutation Research

JF - Mutation Research/Reviews in Mutation Research

SN - 1383-5742

ER -