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TMPRSS6 rs855791 polymorphism and susceptibility to iron deficiency anaemia in non-dialysis chronic kidney disease patients in South Africa.

ABSTRACT: BACKGROUND:In genome-wide studies, there is a strong association between the TMPRSS6 allele A736V (rs855791) and significantly lower levels of serum iron, transferrin saturation, haemoglobin, and mean corpuscular volumes. The influence of this genetic variant on susceptibility to iron deficiency anaemia (IDA) in chronic kidney disease (CKD) patients is unknown. METHODS:In this cross-sectional study, we measured the full blood count and TMPRSS6 T>C polymorphism in black adult participants (n=260) with CKD and healthy controls (n=146) at the Charlotte Maxeke Johannesburg Academic Hospital, South Africa. RESULTS:The overall prevalence of anaemia in the CKD and control population was 46.9% and 19.6% respectively. Twenty-six per cent of CKD participants were iron deficient. The prevalence of rs855791 C homozygosity was similar among iron deficient and non-iron deficient anaemia groups (86.1% vs 84.2%, P=0.723). When the analysis was confined to subjects with or without functional iron deficiency anaemia, C homozygote (88.3% vs 84.4%, P=0.425) was similar for both groups. CONCLUSIONS:Our study suggests that homozygosity for TMPRSS6 rs855791 C genotype does not influence IDA in non-dialysis CKD patients in our population.

SUBMITTER: Nalado AM

PROVIDER: S-EPMC6420716 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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TMPRSS6 rs855791 polymorphism and susceptibility to iron deficiency anaemia in non-dialysis chronic kidney disease patients in South Africa.

Nalado Aishatu Muhammad AM Dickens Caroline C Dix-Peek Therese T Mahlangu Johnny N JN Olorunfemi Gbenga G Paget Graham G Duarte Raquel R Naicker Saraladevi S

International journal of molecular epidemiology and genetics 20190215 1

<h4>Background</h4>In genome-wide studies, there is a strong association between the TMPRSS6 allele A736V (rs855791) and significantly lower levels of serum iron, transferrin saturation, haemoglobin, and mean corpuscular volumes. The influence of this genetic variant on susceptibility to iron deficiency anaemia (IDA) in chronic kidney disease (CKD) patients is unknown.<h4>Methods</h4>In this cross-sectional study, we measured the full blood count and TMPRSS6 T>C polymorphism in black adult parti ...[more]

PMID: 30911357

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Project description:Background Anaemia is a common presenting feature among patients with chronic kidney disease (CKD) and it is associated with poor clinical outcomes and quality of life. It is not clear if growth differentiation factor-15 (GDF-15) or hepcidin are useful as early markers of iron deficiency anaemia (IDA) among non-dialysis CKD patients. We therefore evaluated the diagnostic validity of GDF-15 and hepcidin as biomarkers of IDA among non-dialysis CKD patients in Johannesburg, South Africa. Method An analytic cross-sectional study was conducted among non-dialysis CKD patients (n?=?312) and apparently healthy controls (n?=?184) from June to December 2016 at an Academic Hospital, in Johannesburg, South Africa. An interviewer administered proforma was used to obtain the socio-biological and clinical characteristics of the participants. Serum levels of GDF-15 and hepcidin were determined. Predictive logistic regression models were built and post estimation receiver operator characteristics were determined to evaluate diagnostic validity of hepcidin and GDF-15 for absolute and functional iron deficiency anaemia. Results About half (50.6%) of the participants were female while the participants’ mean age was 49.7?±?15.8?years. The predictive value of diagnosing absolute IDA among CKD patients using GDF-15 was 74.02% (95% CI: 67.62–80.42%) while the predictive value of diagnosing functional IDA among CKD patients using hepcidin was 70.1% (95% CI: 62.79–77.49%).There was a weak negative correlation between hepcidin levels and GFR (r?=???0.19, p?=?0.04) in anaemic CKD patients, and between serum GDF-15 and haemoglobin (r?=???0.34, p?=?0.001). Serum ferritin (??=?0.00389, P-value<?0.001), was a predictor of log hepcidin. MCHC (??=???0.0220, P-value 0.005) and CKD stage (??=?0.4761, P-value <?0.001), race (??=?0.3429, P-value?=?0.018) were predictors of log GDF-15. Both GDF-15 (adj OR: 1.0003, 95%CI: 1.0001–1.0005, P?=?0.017) and hepcidin (adj OR: 1.003, 95%CI: 1.0004–1.0055, P?=?0.023) were associated with iron deficiency anaemia after multiple linear regression modelling. Conclusion Serum GDF-15 is a potential biomarker of absolute IDA, while hepcidin levels can predict functional IDA among CKD patients.

Project description:INTRODUCTION:Iron deficiency anaemia (IDA) worsens the prognosis and outcomes of chronic kidney disease (CKD). However, while the haemoglobin level is unreliable for early detection of IDA, reticulocyte haemoglobin content (CHr) and hypochromic red cells (%HYPO) are early markers of IDA. METHODS:This was a cross sectional study of black adult participants (n = 258) with CKD and apparently healthy members of staff and patients' relatives (n = 141) at the Charlotte Maxeke Johannesburg Academic Hospital, South Africa, between 1 June 2016 and 31 December 2016. Serum iron, serum ferritin and transferrin were measured using standard laboratory methods, while the haematology analyser was employed to measure CHr and %HYPO. The validity of CHr and %HYPO as markers of IDA were evaluated. Multivariable binary logistic regression was conducted to determine predictors of the relationship between IDA, CHr and %HYPO. The area under the receiver operator characteristics (ROC) curve (AUC) of the final models were utilised to evaluate the discriminatory value of CHr and %HYPO respectively. RESULTS:About one-quarter (26.1%) of the participants had IDA which was more than three times more frequent among CKD patients, compared to controls (35.3% vs 9.2%); 32.3% (95%CI: 27.90%- 37.10%) of the study population had iron deficiency without anaemia and the prevalence of iron deficiency without anaemia was lower in CKD patients compared to controls (29.5% vs 37.6%). The mean age of CKD patients was higher than in controls (52.7 ±14.3 vs 40.4 ±12.6 years, P-value<0.001). The sensitivity and specificity for diagnosing IDA among CKD participants was 62.6% and 80.2% respectively for CHr (at a cut-off value of <28pg) and 63.3% and 79.8% respectively for %HYPO. CKD participants with CHr levels >28pg were 82% less likely to be diagnosed as having IDA as compared to those with CHr levels ? 28pg) (adj odds ratio = 0.18, 95% CI: 0.09-0.37). The AUC of CHr (0.81, 95% CI: 0.76-0.87) was higher than the AUC of %HYPO (0.76, 95%CI: 0.70-0.82). CONCLUSION:The diagnostic usefulness of CHr and the screening performance of %HYPO in predicting IDA among CKD patients are high. Their lower cost compared to conventional markers of ID recommend their use in clinical practice. Further cost effectiveness studies of these parameters are warranted.

Dataset Information

TMPRSS6 rs855791 polymorphism and susceptibility to iron deficiency anaemia in non-dialysis chronic kidney disease patients in South Africa.

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TMPRSS6 rs855791 polymorphism and susceptibility to iron deficiency anaemia in non-dialysis chronic kidney disease patients in South Africa.

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