Study the association of transmembrane serine protease 6 gene polymorphisms with iron deficiency status in Saudi Arabia.
PMID 32422234 | DOI 10.1016/j.gene.2020.144767 · Gene · 2020
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TMPRSS6 | “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.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Tabuk | “Study the association of transmembrane serine protease 6 gene polymorphisms with iron deficiency status in Saudi Arabia. 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. 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. 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.” | 0.95 | saudi_context_rules_v1 |
| variant | rs2111833 | “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.” | 0.90 | hgvs_regex_v1 |
| variant | rs855791 | “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.” | 0.90 | hgvs_regex_v1 |