TMPRSS6 Gene Polymorphism and Serum Hepcidin in Iron Deficiency Anemia

Elmahdy, Mohammed; Elhakeem, Heba; Gaber, Fatma; Mourad, Fatma

doi:10.21608/ejhm.2018.17507

Cited by 3 publications

(4 citation statements)

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“…Another study conducted by Elmahdy et al [24] reported SNP of rs4820268 showed the highest frequency of allele in the IDA group compared to the lean group, and this allele exhibits a highly significant association in the IRIDA group. There was a significant increase in the frequency of mutations in the IDA group and a highly significant increase in the frequency of mutations in the IRIDA group relating to the SNP of rs855791.…”

Section: Identification Of Snps In the Tmprss6 Genementioning

confidence: 88%

“…In a Taiwanese case-control study, homozygotes for the SNP rs855791 CC had a lower prevalence of IDA than people with the CT or TT variant [50]. Meanwhile, variants (TT) in rs855791 are also related to lower TS and serum ferritin (SF), higher hepcidin, and higher ratios of hepcidin to iron indices in European and Saudi Arabia populations [19,24,63]. Surprisingly, the TT variation was also related to higher declines in SF and haemoglobin (Hb) after several donations in first-time blood donors, indicating a decreased capacity to replenish stockpiles following donation [65].…”

Section: Risk Allele Of Tmprss6 Gene Polymorphismmentioning

confidence: 99%

“…Recent studies demonstrated that TMPRSS6 gene polymorphisms were associated with elevated hepcidin levels in end-stage renal failure [22] and chronic kidney disease patients with IDA [23]. Mutations in the TMPRSS6 gene were also reported in patients with IRIDA, a rare autosomal recessive disorder in which the hepcidin levels were shown to be elevated [24,25]. Therefore, it is critical to understand the metabolic mechanism of the normal TMPRSS6 gene and how the polymorphisms in the TMPRSS6 gene cause IDA.…”

Section: Introductionmentioning

confidence: 99%

“…Although not causal, these SNPs are useful in diagnostics and disease propensity screening. Finding genetic variants in the iron regulatory gene TMPRSS6 that may be associated with different responses to IRIDA and IDA treatment is therefore critical for understanding the underlying mechanism of these disorders and developing new interventions [19,24].…”

Section: A Brief Introduction To Genetic Polymorphismmentioning

confidence: 99%

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TMPRSS6 gene polymorphisms associated with iron deficiency anaemia among global population

Atan

Saman

Kamsani

et al. 2022

Egypt J Med Hum Genet

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Iron deficiency anaemia (IDA) has been recognised as a common global health problem that affects more than 1.2 billion people worldwide, particularly in high-risk individuals such as young children, pre-menopausal women, and pregnant women. In most cases, IDA arises due to the prolonged effect of iron deficiency (ID). On the other hand, it has been estimated that iron deficiency without anaemia is more frequent nowadays. Apart from the lack of nutrients, infections and inflammatory diseases, genetic factors can also be another factor that drives iron instability in the blood, leading to IDA. Previous studies, including genome-wide association studies, have identified multiple transmembrane protease serine 6 (TMPRSS6) genetic variants associated with different iron parameters, especially variants contributing to an increase in hepcidin level, low blood, and iron status. Despite multiple studies on TMPRSS6 gene polymorphisms, fewer studies are reported among the Asian population. Thus, further association studies of TMPRSS6 genetic polymorphisms between ID and IDA are warranted among the Asian population. This review provides a comprehensive summary of the causative TMPRSS6 genetic variants and their roles associated with iron deficiency among the global population.

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Section: Identification Of Snps In the Tmprss6 Genementioning

confidence: 88%

Section: Risk Allele Of Tmprss6 Gene Polymorphismmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: A Brief Introduction To Genetic Polymorphismmentioning

confidence: 99%

See 2 more Smart Citations

TMPRSS6 gene polymorphisms associated with iron deficiency anaemia among global population

Atan

Saman

Kamsani

et al. 2022

Egypt J Med Hum Genet

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Genetic Variations of ferroportin-1(FPN1-8CG), TMPRSS6 (rs855791) and Hemojuvelin (I222N and G320V) Among a Cohort of Egyptian β-Thalassemia Major Patients

El-Gharbawi

Shaheen

Hamdy

et al. 2022

Indian J Hematol Blood Transfus

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Iron overload remains a major cause of morbidity and mortality among β-thalassemia major (β-TM) patients. Iron regulatory proteins and their genetic variants together with changes in hepcidin levels in thalassemic patients could affect the disease manifestations. This work aimed to study genetic variations of ferroportin-1 (FPN1-8CG), Transmembrane Serine Protease 6 (TMPRSS6 rs855791) and hemojuvelin (HJV I222N and G320V) genes within a cohort of 97 β-TM Egyptian patients by Polymerase chain reaction Restriction Fragment Length Polymorphism (PCR-RFLP) in comparison to fifty normal control subjects. Among β-TM patients; the CG variant of FPN1 was significantly higher, while the TT and TC variants of TMPRSS6 were significantly lower in comparison to controls. Liver Iron Concentration (LIC) was significantly higher among β-TM patients harboring the FPN1 (GG) genotype and we found that FPN1gene mutation acts as independent predictor of MRI LIC (p = 0.011), Pulmonary artery pressure (PAP) was significantly higher in patients harboring the mutant FPN1 (GG and CG) genotypes (p value 0.04). β-TM patients having the HJV I222N (AA) genotype were having significantly higher cardiac iron overload (p value = 0.026). The studied genetic variants of iron regulatory proteins could alter the manifestations of iron overload thus resulting in different clinical phenotypes of thalassemic patients, these findings need to be confirmed by larger cohorts of patients with longer follow-up periods.

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The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study)

Hamed,

Bostany,

Motawie

et al. 2024

BMC Pediatr

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Several studies have shown association of single nucleotide polymorphisms (SNPs) of hepcidin regulatory pathways genes with impaired iron status. The most common is in the TMPRSS6 gene. In Africa, very few studies have been reported. We aimed to investigate the correlation between the common SNPs in the transmembrane protease, serine 6 (TMPRSS6) gene and iron indicators in a sample of Egyptian children for identifying the suitable candidate for iron supplementation.Patients and methods One hundred and sixty children aged 5–13 years were included & classified into iron deficient, iron deficient anemia and normal healthy controls. All were subjected to assessment of serum iron, serum ferritin, total iron binding capacity, complete blood count, reticulocyte count, serum soluble transferrin receptor and serum hepcidin. Molecular study of TMPRSS6 genotyping polymorphisms (rs4820268, rs855791 and rs11704654) were also evaluated.Results There was an association of iron deficiency with AG of rs855791 SNP, (P = 0.01). The minor allele frequency for included children were 0.43, 0.45 & 0.17 for rs4820268, rs855791 & rs11704654 respectively. Genotype GG of rs4820268 expressed the highest hepcidin gene expression fold, the lowest serum ferroportin & iron store compared to AA and AG genotypes (p = 0.05, p = 0.05, p = 0.03 respectively). GG of rs855791 had lower serum ferritin than AA (p = 0.04), lowest iron store & highest serum hepcidin compared to AA and AG genotypes (p = 0.04, p = 0.01 respectively). Children having CC of rs11704654 had lower level of hemoglobin, serum ferritin and serum hepcidin compared with CT genotype (p = 0.01, p = 0.01, p = 0.02) respectively.Conclusion Possible contribution of SNPs (rs855791, rs4820268 and rs11704654) to low iron status.

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TMPRSS6 Gene Polymorphism and Serum Hepcidin in Iron Deficiency Anemia

Cited by 3 publications

References 0 publications

TMPRSS6 gene polymorphisms associated with iron deficiency anaemia among global population

TMPRSS6 gene polymorphisms associated with iron deficiency anaemia among global population

Genetic Variations of ferroportin-1(FPN1-8CG), TMPRSS6 (rs855791) and Hemojuvelin (I222N and G320V) Among a Cohort of Egyptian β-Thalassemia Major Patients

The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study)

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