Study the association of transmembrane serine protease 6 gene polymorphisms with iron deficiency status in Saudi Arabia

Osama Al-Amer; Yousef Hawasawi; Atif Abdulwahab A Oyouni; Mohammed Alshehri; Abdulrahman Alasmari; Othman Alzahrani; Saad Ali S Aljohani

doi:10.1016/j.gene.2020.144767

Study the association of transmembrane serine protease 6 gene polymorphisms with iron deficiency status in Saudi Arabia

Gene. 2020 Aug 15:751:144767. doi: 10.1016/j.gene.2020.144767. Epub 2020 May 16.

Authors

Osama Al-Amer¹, Yousef Hawasawi², Atif Abdulwahab A Oyouni³, Mohammed Alshehri³, Abdulrahman Alasmari³, Othman Alzahrani³, Saad Ali S Aljohani⁴

Affiliations

¹ Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia; Genome and Biotechnology Unit, Faculty of Sciences, University of Tabuk, Tabuk, Saudi Arabia. Electronic address: oalamer@ut.edu.sa.
² Research Center, King Faisal Specialist Hospital and Research Center, Jeddah 21499, P.O. Box 40047, Saudi Arabia; College of Medicine, Al-Faisal University, P.O. Box 50927, Riyadh 11533, Saudi Arabia.
³ Department of Biology, Faculty of Sciences, University of Tabuk, Tabuk, Saudi Arabia; Genome and Biotechnology Unit, Faculty of Sciences, University of Tabuk, Tabuk, Saudi Arabia.
⁴ Department of Basic Medical Sciences, Faculty of Medicine, Alrayan Colleges, Almadinah Almunawarah, Saudi Arabia.

PMID: 32422234
DOI: 10.1016/j.gene.2020.144767

Abstract

Background: Intheclinical setting, iron deficiencyanaemia(IDA) represents a majorglobalhealthconcern. This health condition is reported in 30% of non-pregnant women, 42% of pregnant women (aged 15-50 years), 12.7% of men (15 years or older) and in 47% of preschool children (aged 0 to 5 years). Several genetic polymorphisms associated with iron status havebeen identified by using genome-wide association studies.

Aim: This study aimed to identify the functional polymorphismsrs855791 and rs2111833 in the transmembrane serine protease 6 (TMPRSS6) gene in female university students with IDA inthe Kingdom of Saudi Arabia.

Methods: About 108 female students, aged from 18 to 25 years, were randomly selected and included to this study. Fifty-eightparticipants were iron deficient, and fifty participants were healthy. Blood samples were collected from all participants andassessed based on theirhaematologicaland biochemical iron status indices. Genotyping was carried out byusing PCR.

Results: The genotype distribution oftheTMPRSS6rs855791 region in female studentsfromTabuk University,northern Saudi Arabia,was0% (CC), 77.6% (CT) and 22.4% (TT) in the iron-deficient students compared to 2% (CC), 96% (CT) and 2% (TT) in the healthy students,indicating significant differences in the allelic distribution betweentheiron-deficient group andthehealthy group. The genotype distribution of theTMPRSS6rs2111833 polymorphism was 8.6% (GG), 89.7% (GA) and 1.7% (AA) inthe iron-deficient students compared to 6% (GG), 92% (GA) and 2% (AA) in the healthy students,respectively,showing no differences between the iron-deficient group andthehealthy group in allelic distribution.

Conclusion: Our data demonstrated that theTMPRSS6 polymorphism rs855791 is significantly associated with decreased iron status, whereasTMPRSS6 polymorphismrs2111833 is not linked with iron deficiency status in female university students innorthern Saudi Arabia.

Keywords: Iron deficiency anaemia (IDA); SNP genotype and female students; TMPRSS6.

MeSH terms

Adolescent
Adult
Female
Genetic Association Studies
Humans
Iron Deficiencies*
Membrane Proteins / genetics*
Polymorphism, Genetic*
Saudi Arabia
Serine Endopeptidases / genetics*
Young Adult

Substances

Membrane Proteins
Serine Endopeptidases
TMPRSS6 protein, human