Association of SNPs within TMPRSS6 and BMP2 genes with iron deficiency status in Saudi Arabia

Osama M. Al-Amer, Atif Abdulwahab A. Oyouni, Mohammed Ali Alshehri, Abdulrahman Alasmari, Othman R. Alzahrani, Saad Ali S. Aljohani, Noura Salman Alasmael, Abdulrahman Theyab, Mohammad Algahtani, Hadeel Al Sadoun, Khalaf F. Alsharif, Abdullah Hamad, Wed A. Abdali, Yousef Hawsawi

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Background Globally, iron-deficiency anemia (IDA) remains a major health obstacle. This health condition has been identified in 47% of pre-school students (aged 0 to 5 years), 42% of pregnant females, and 30% of non-pregnant females (aged 15 to 50 years) worldwide according to the WHO. Environmental and genetic factors play a crucial role in the development of IDA; genetic testing has revealed the association of a number of polymorphisms with iron status and serum ferritin. Aim The current study aims to reveal the association of TMPRSS6 rs141312 and BMP2 rs235756 with the iron status of females in Saudi Arabia. Methods A cohort of 108 female university students aged 18–25 years was randomly selected to participate: 50 healthy and 58 classified as iron deficient. A 3–5 mL sample of blood was collected from each one and analyzed based on hematological and biochemical iron status followed by genotyping by PCR. Results The genotype distribution of TMPRSS6 rs141312 was 8% (TT), 88% (TC) and 4% (CC) in the healthy group compared with 3.45% (TT), 89.66% (TC) and 6.89% (CC) in the iron-deficient group (P = 0.492), an insignificant difference in the allelic distribution. The genotype distribution of BMP2 rs235756 was 8% (TT), 90% (TC) and 2% (CC) in the healthy group compared with 3.45% (TT), 82.76% (TC) and 13.79% (CC) in iron-deficient group (P = 0.050) and was significantly associated with decreased ferritin status (P = 0.050). In addition, TMPRSS6 rs141312 is significantly (P
Original languageEnglish (US)
Pages (from-to)e0257895
JournalPLoS ONE
Issue number11 November
StatePublished - Nov 15 2021

Bibliographical note

KAUST Repository Item: Exported on 2021-11-26
Acknowledgements: This project was supported by the Deanship of Scientific Research (DSR), University.

ASJC Scopus subject areas

  • General Agricultural and Biological Sciences
  • General Biochemistry, Genetics and Molecular Biology
  • General Medicine


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