An association of transferrin gene polymorphism and serum transferrin levels with age-related macular degeneration

Wysokiński, Daniel; Danisz, Katarzyna; Błasiak, Janusz; Dorecka, Mariola; Romaniuk, Dorota; Szaflik, Jerzy; Szaflik, Jacek P.

doi:10.1016/j.exer.2012.10.003

Cited by 26 publications

(17 citation statements)

References 96 publications

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“…Previous studies have reported that percentage of TfR1 polymorphism (A210G) is equal or more than 50% [9,17,18]. Unfortunately, we have not found any mutation of TfR1 gene in 54 female students with IDA.…”

Section: Discussioncontrasting

confidence: 42%

Iron Deficiency is The Main Cause of Anemia in Female Students of Secondary Schools in Sukoharjo Regency with No Polymorphism of Transferrin Receptor 1

Rahayu¹,

Indarto²,

Wiboworini³

et al. 2017

Proceedings of the 1st International Integrative Conference on Health, Life and Social Sciences (ICHLaS 2017)

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Abstract-Iron deficiency anemia (IDA) in reproductive females remains a public health problem in Indonesia. Transferrin receptor 1 (TfR1) is one of important proteins, which are involved in regulation of the iron metabolism in the human body. Mutation of A210G TfR1 gene increases soluble TfR levels in some patients with type 2 diabetes. This study aimed to investigate the relationship between polymorphism of TfR1 gene and IDA in female students of senior high schools in Sukoharjo regency. This was an analytic observational study with the cross sectional approach. Research subjects were 470 female students who studied in year 10 and 11 of Public Senior High Schools in Sukoharjo Regency, Central Java. IDA diagnosis was determined using haemoglobin (Hb) levels, erythrocyte indexes (mean corpuscular volume, mean corpuscular haemoglobin and mean corpuscular haemoglobin concentration) and plasma ferritin levels. Food recall 1x24 hours was used to determine daily nutrient intake. Polymorphism of TfR1 gene A210G was determined using DNA sequencing. All collected data were analyzed using chi-square and Pearson correlation tests with p value <0.05. Anemia was detected in 18.9% female students and 60% of them had iron deficiency. Intake of carbohydrate (r= -0.07; p= 0.45), protein (r= 0.01; p= 0.93) and iron (r= 0.04; p= 0.32) did not correlate with Hb levels whilst lipid intake had weak correlation with Hb levels (r= -0.19; p= 0.03). Inadequate food intake was commonly found in female students. A genetic variation of TfR1 gene was not found in female students with IDA. In conclusion, IDA is found in two third of anemic female students of senior high schools in Sukoharjo regency. There is no polymorphism of TfR1 gene in female students with IDA.

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Section: Discussioncontrasting

confidence: 42%

Iron Deficiency is The Main Cause of Anemia in Female Students of Secondary Schools in Sukoharjo Regency with No Polymorphism of Transferrin Receptor 1

Rahayu¹,

Indarto²,

Wiboworini³

et al. 2017

Proceedings of the 1st International Integrative Conference on Health, Life and Social Sciences (ICHLaS 2017)

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“…In addition, an intronic DMT1 polymorphism, DMT1 IVS4+44C>A, has been associated with increased risk for Wilson’s disease [21], age related macular degeneration [22], Parkinson's disease [23], and, more recently, also with inter-individual variations in blood iron levels [24]. In all of these studies, the C-allele was more frequent in patients in comparison to the control group and seemed to be a risk factor for these diseases, possibly increasing the susceptibility to metal toxicity [25].…”

Section: Introductionmentioning

confidence: 99%

The DMT1 IVS4+44C>A polymorphism and the risk of iron deficiency anemia in children with celiac disease

et al. 2017

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BackgroundIron deficiency anemia in celiac disease is related to impaired duodenal mucosal uptake, due to villous atrophy. Iron enters the enterocytes through an apical divalent metal transporter, DMT1. Different DMT1 transcripts have been identified, depending on the presence of an iron-responsive element that allows DMT1 up-regulation during iron starvation. An intronic DMT1 polymorphism, IVS4+44C>A, has been associated with metal toxicity, and the CC-carriers show high iron levels.AimsThis study investigates the association between DMT1 IVS4+44C>A and anemia in a cohort of 387 Italian celiac children, and the functional role of the polymorphism.Methods and resultsBy association analysis, we found that DMT1 IVS4+44-AA genotype confers a four-fold risk of developing anemia, despite of atrophy degree. By analysis of mRNA from gastroesophageal biopsies, we found that total DMT1 is significantly upregulated in presence of mild, but not severe, atrophy, independently from IVS4+44C>A variant, and in normal but not in atrophic CC-biopsies. Moreover, we found that A-allele is associated to preferential expression of the DMT1 transcripts lacking the iron-responsive element, thus limiting the DMT1 overexpression that normally occurs to respond to iron starvation.DiscussionPossibly, the IVS4+44-AA-related dysregulation of the iron-induced changes in DMT1 expression is not able to impair iron absorption in physiological condition. However, if exacerbated by the concomitant massive loss of functional absorbing tissue paralleling worsened stages of villus atrophy, it might be ineffective in counteracting iron deficiency, despite of DMT1 overexpression.ConclusionWe suggest, for the first time, that celiac disease may unmask the contribution of the DMT1 IVS4+44C>A polymorphism to the risk of anemia.

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“…Since transferrin-transferrin receptors iron uptake system seems to be of a special importance for iron balance in the organism, and numerous data indicate that deregulation of that system may be deleterious, it seems possible that it may also play a role in AMD pathogenesis. Our previous data suggest that transferrin gene variation may contribute to AMD, and transferrin level may differ between AMD and controls [24]. Therefore, it may be expected that the gene encoding transferrin receptor 2 may also be associated with this condition.…”

Section: Discussionmentioning

confidence: 99%

Variability of the Transferrin Receptor 2 Gene in AMD

et al. 2014

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Oxidative stress is a major factor in the pathogenesis of age-related macular degeneration (AMD). Iron may catalyze the Fenton reaction resulting in overproduction of reactive oxygen species. Transferrin receptor 2 plays a critical role in iron homeostasis and variability in its gene may influence oxidative stress and AMD occurrence. To verify this hypothesis we assessed the association between polymorphisms of the TFR2 gene and AMD. A total of 493 AMD patients and 171 matched controls were genotyped for the two polymorphisms of the TFR2 gene: c.1892C>T (rs2075674) and c.−258+123T>C (rs4434553). We also assessed the modulation of some AMD risk factors by these polymorphisms. The CC and TT genotypes of the c.1892C>T were associated with AMD occurrence but the latter only in obese patients. The other polymorphism was not associated with AMD occurrence, but the CC genotype was correlated with an increasing AMD frequency in subjects with BMI < 26. The TT genotype and the T allele of this polymorphism decreased AMD occurrence in subjects above 72 years, whereas the TC genotype and the C allele increased occurrence of AMD in this group. The c.1892C>T and c.−258+123T>C polymorphisms of the TRF2 gene may be associated with AMD occurrence, either directly or by modulation of risk factors.

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An association of transferrin gene polymorphism and serum transferrin levels with age-related macular degeneration

Cited by 26 publications

References 96 publications

Iron Deficiency is The Main Cause of Anemia in Female Students of Secondary Schools in Sukoharjo Regency with No Polymorphism of Transferrin Receptor 1

Iron Deficiency is The Main Cause of Anemia in Female Students of Secondary Schools in Sukoharjo Regency with No Polymorphism of Transferrin Receptor 1

The DMT1 IVS4+44C>A polymorphism and the risk of iron deficiency anemia in children with celiac disease

Variability of the Transferrin Receptor 2 Gene in AMD

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