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

Abstract

Background: In the clinical setting, iron deficiency anaemia (IDA) represents a major global health concern. 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 have been identified by using genome-wide association studies. Aim: This study aimed to identify the functional polymorphisms rs855791 and rs2111833 in the transmembrane serine protease 6 (TMPRSS6) gene in female university students with IDA in the Kingdom of Saudi Arabia. Methods: About 108 female students, aged from 18 to 25 years, were randomly selected and included to this study. Fifty-eight participants were iron deficient, and fifty participants were healthy. Blood samples were collected from all participants and assessed based on their haematological and biochemical iron status indices. Genotyping was carried out by using PCR. Results: The genotype distribution of the TMPRSS6 rs855791 region in female students from Tabuk University, northern Saudi Arabia, was 0% (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 between the iron-deficient group and the healthy group. The genotype distribution of the TMPRSS6 rs2111833 polymorphism was 8.6% (GG), 89.7% (GA) and 1.7% (AA) in the 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 and the healthy group in allelic distribution. Conclusion: Our data demonstrated that the TMPRSS6 polymorphism rs855791 is significantly associated with decreased iron status, whereas TMPRSS6 polymorphism rs2111833 is not linked with iron deficiency status in female university students in northern Saudi Arabia.