SNPMiner Trials by Shray Alag

SNPMiner Trials: SNP Report

Report for SNP rs4820268

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Assessing the Effects of Genetic Variations Within the Hepcidin Pathway Genes on Oral Iron Absorption Using a Genes-in-Action Study Design

Anaemia continues to be one of the most common health problems affecting children and pregnant women in low-income countries. Nutritional iron deficiency is believed to be the main driver of anaemia, so mass iron supplementation and food fortification programs have been recommended by most public health organizations. However, these interventions are frequently ineffective and new strategies are desperately needed. Both anaemia and iron absorption are influenced by multiple factors, including nutritional status, infection, low grade inflammation and host genetics. The discovery of hepcidin, the master regulator of iron absorption and regulation has opened new avenues for investigation. Genome-wide association studies have identified several single nucleotide polymorphisms (SNPs) within hepcidin regulatory genes that are associated with altered iron status both in African populations. The study aims to investigate the impact of genetic alterations in hepcidin regulation on oral iron absorption. A recall-by-genotype study will be conducted using an existing database of pre-genotype individuals in rural Gambia (West Kiang). This database comprise of data on >3000 Gambians, with Illumina HumanExome array data on 80K directly genotyped putative functional variants as well as imputation data on 20M variants.

NCT03341338 Anemia

To begin with, the focus will be on three common SNPs within the TMPRSS6 gene, rs855791, rs4820268 and rs2235321, with minor allele frequencies (MAF) at 7, 27 and 44% in the study population.

Primary Outcomes

Description: TSAT level as a proxy measure for iron absorption

Measure: transferrin saturation (TSAT)

Time: at 5 hours

Secondary Outcomes

Description: these iron biomarkers (hepcidin, serum iron levels, serum ferritin, total iron binding capacity, serum transferrin, soluble transferrin receptor (sTfR)), will be measured

Measure: iron markers

Time: at baseline and at 5 hours after iron supplementation

Description: haematological parameters (haemoglobin, red blood cell indices measured from full blood count)

Measure: haematology parameters

Time: at baseline and at 5 hours after iron supplementation

Description: inflammatory markers (C-reactive protein),

Measure: inflammatory markers

Time: at baseline and at 5 hours after iron supplementation

HPO Nodes