SNP information rs4820268

Research and publications:

  18454203   Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.

  19084217   Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.

  19673882   A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.

  19820698   Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.

  19853236   Sequence variants in three loci influence monocyte counts and erythrocyte volume.

  19880490   A genome-wide association analysis of serum iron concentrations.

  20927387   A genome-wide association study of red blood cell traits using the electronic medical record.

  21208937   Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

  21483845   Genome-wide association study identifies genetic loci associated with iron deficiency.

  21978626   Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women.

  22301935   Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population.

  22323359   TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia.

  22509377   Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutation.

  23092954   SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits

  23468552   Genetic variants influencing biomarkers of nutrition are not associated with cognitive capability in middle-aged and older adults.

  23996192   Toenail iron, genetic determinants of iron status, and the risk of glioma.

  24966834   The role of TMPRSS6/matriptase-2 in iron regulation and anemia.

  25416640   Inter-ethnic differences in genetic variants within the transmembrane protease, serine 6 (TMPRSS6) gene associated with iron status indicators: a systematic review with meta-analyses.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  26446360   Mendelian randomization studies of biomarkers and type 2 diabetes.

  26582562   Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver.

  27332551   Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry.

  27437086   Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.

  28151393   Genetic factors associated with iron storage in Australian blood donors.

  28917245   A single-nucleotide polymorphism in transferrin is associated with soluble transferrin receptor in Chinese adolescents.

  29928945   The role of TMPRSS6 gene variants in iron-related hematological parameters in Turkish patients with iron deficiency anemia.

  30593316   [Association between the polymorphisms of TMPRSS6 and the levels of serum ferrtin and soluble transferrin receptor in pregnant women in Lüliang Area of Shanxi Province].

  31010126   The Association of TMPRSS6 Gene Polymorphism and Iron Intake with Iron Status among Under-Two-Year-Old Children in Lombok, Indonesia.

  31097152   Associations between single nucleotide polymorphisms and erythrocyte parameters in humans: A systematic literature review.

  32363518   Associations of TMPRSS6 Polymorphisms with Gestational Diabetes Mellitus in Chinese Han Pregnant Women: a Preliminary Cohort Study.

  32385772   An investigation of the relationship between TMPRSS6 gene expression, genetic variants and clinical findings in breast cancer.

  33817543   Common Variants in the TMPRSS6 Gene Alter Hepcidin but not Plasma Iron in Response to Oral Iron in Healthy Gambian Adults: A Recall-by-Genotype Study.

  33850216   Association of common TMPRSS6 and TF gene variants with hepcidin and iron status in healthy rural Gambians.