Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans

Human Molecular Genetics

Volumn 24, Issue 2, 2015, Pages 572-581

  Li, Jin ^a   Lange, Leslie A ^a   Duan, Qing ^a   Lu, Yurong ^a   Singleton, Andrew B ^c   Zonderman, Alan B ^c   Evans, Michele K ^c   Li, Yun ^a,b   Taylor, Herman A ^d,e,f   Willis, Monte S ^a   Nalls, Mike ^c   Wilson, James G ^d   Lange, Ethan M ^a,b  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b University of North Carolina at Chapel Hill   (United States)

^c NATIONAL INSTITUTE ON AGING   (United States)

^d UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^e JACKSON STATE UNIVERSITY   (United States)

^f TOUGALOO COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; IRON; TRANSFERRIN;

ADULT; AFRICAN AMERICAN; ANCESTRY GROUP; ARTICLE; CHROMOSOME 16; CHROMOSOME 3; CHROMOSOME 6; FEMALE; FERRITIN BLOOD LEVEL; GAB3 GENE; GENE; GENE MAPPING; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HDGFL1 GENE; HUMAN; IRON BINDING CAPACITY; IRON BLOOD LEVEL; MAF GENE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TF GENE; TRANSFERRIN BLOOD LEVEL; AGED; BLOOD; COHORT ANALYSIS; ETHNOLOGY; GENETICS; IRON DEFICIENCY ANEMIA; METABOLISM; MIDDLE AGED;

ADULT; AFRICAN AMERICANS; AGED; ANEMIA, IRON-DEFICIENCY; COHORT STUDIES; FEMALE; FERRITINS; GENOME-WIDE ASSOCIATION STUDY; HUMANS; IRON; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSFERRIN;

EID: 84922445124     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu454     Document Type: Article

References (36)

1. Andrews, N.C. and Schmidt, P.J. (2007) Iron homeostasis. Annu. Rev. Physiol., 69, 69-85.
2. Njajou, O.T., Alizadeh, B.Z., Aulchenko, Y., Zillikens, M.C., Pols, H.A., Oostra, B.A., Swinkels, D.W. and van Duijn, C.M. (2006) Heritability of serum iron, ferritin and transferrin saturation in a genetically isolated population, the Erasmus Rucphen Family (ERF) Study. Hum. Hered., 61, 222-228.
3. Wilson, J.G., Lindquist, J.H., Grambow, S.C., Crook, E.D. and Maher, J.F. (2003) Potential role of increased iron stores in diabetes. Am. J. Med. Sci., 325, 332-339.
4. Oexle, K., Ried, J.S., Hicks, A.A., Tanaka, T., Hayward, C., Bruegel, M., Gogele, M., Lichtner, P., Muller-Myhsok, B., Doring, A. et al. (2011) Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. Hum. Mol. Genet., 20, 1042-1047.
5. Pichler, I., Minelli, C., Sanna, S., Tanaka, T., Schwienbacher, C., Naitza, S., Porcu, E., Pattaro, C., Busonero, F., Zanon, A. et al. (2011) Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. Hum. Mol. Genet., 20, 1232-1240.
6. Traglia, M., Girelli, D., Biino, G., Campostrini, N., Corbella, M., Sala, C., Masciullo, C., Vigano, F., Buetti, I., Pistis, G. et al. (2011) Association of HFE and TMPRSS6genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. J. Med. Genet., 48, 629-634.
7. Benyamin, B., McRae, A.F., Zhu, G., Gordon, S., Henders, A.K., Palotie, A., Peltonen, L., Martin, N.G., Montgomery, G.W., Whitfield, J.B. et al. (2009) Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. Am. J. Hum. Genet., 84, 60-65.
8. Whitfield, J.B., Treloar, S., Zhu, G., Powell, L.W. and Martin, N.G. (2003) Relative importance of female-specific and non-female-specific effects on variation in iron stores between women. Br. J. Haematol., 120, 860-866.
9. McLaren, C.E., McLachlan, S., Garner, C.P., Vulpe, C.D., Gordeuk, V.R., Eckfeldt, J.H., Adams, P.C., Acton, R.T., Murray, J.A., Leiendecker-Foster, C. et al. (2012) Associations between single nucleotide polymorphisms in iron-related genes and iron status in multiethnic populations. PLoS ONE, 7, e38339.
10. Beutler, E. and West, C. (2005) Hematologic differences between African-Americans and whites: the roles of iron deficiency and a-thalassemia on hemoglobin levels and mean corpuscular volume. Blood, 106, 740-745.
11. Benyamin, B., Ferreira, M.A., Willemsen, G., Gordon, S., Middelberg, R.P., McEvoy, B.P., Hottenga, J.J., Henders, A.K., Campbell, M.J., Wallace, L. et al. (2009) Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. Nat. Genet., 41, 1173-1175.
12. Kutalik, Z., Benyamin, B., Bergmann, S., Mooser, V., Waeber, G., Montgomery, G.W., Martin, N.G., Madden, P.A., Heath, A.C., Beckmann, J.S. et al. (2011) Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. Hum. Mol. Genet., 20, 3710-3717.
13. Paterson, A.D., Waggott, D., Boright, A.P., Hosseini, S.M., Shen, E., Sylvestre, M.P., Wong, I., Bharaj, B., Cleary, P.A., Lachin, J.M. et al. (2010) Agenome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. Diabetes, 59, 539-549.
14. Yang, Q., Kathiresan, S., Lin, J.P., Tofler, G.H. and O'Donnell, C.J. (2007) Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. BMC Med. Genet., 8(Suppl. 1), S12.
15. O'Donnell, C.J., Cupples, L.A., D'Agostino, R.B., Fox, C.S., Hoffmann, U., Hwang, S.J., Ingellson, E., Liu, C., Murabito, J.M., Polak, J.F. et al. (2007) Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. BMC Med. Genet., 8(Suppl. 1), S4.
16. Lowe, J.K., Maller, J.B., Pe'er, I., Neale, B.M., Salit, J., Kenny, E.E., Shea, J.L., Burkhardt, R., Smith, J.G., Ji, W. et al. (2009) Genome-wideassociation studies in an isolated founder population from the Pacific Island of Kosrae. PLoS Genet., 5, e1000365.
17. Vanita, V., Singh, D., Robinson, P.N., Sperling, K. and Singh, J.R. (2006) A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. Am. J. Med. Genet. A, 140, 558-566.
18. Jamieson, R.V., Perveen, R., Kerr, B., Carette, M., Yardley, J., Heon, E., Wirth, M.G., van Heyningen, V., Donnai, D., Munier, F. et al. (2002) Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum. Mol. Genet., 11, 33-42.
19. Christiansen, G. and Mohney, B.G. (2007) Hereditary hyperferritinemia-cataract syndrome. J. AAPOS, 11, 294-296.
20. Suga, Y., Nagita, A., Takesako, R., Tanaka, I., Kobayashi, K., Hirai, M. and Matsuoka, H. (2011) Anew glucose-6-phosphate dehydrogenase deficiency variant, G6PD Mizushima, showing increases in serum ferritin and cytosol leucine aminopeptidase levels. J. Pediatr. Hematol. Oncol., 33, 15-17.
21. Wong, C.T. and Saha, N. (1987) Haemoglobin, serum iron, transferrin, ferritin concentrations and total iron-binding capacity in erythrocyte glucose-6-phosphate dehydrogenase deficiency. Trop. Geogr. Med., 39, 350-353.
22. Chen, Z., Tang, H., Qayyum, R., Schick, U.M., Nalls, M.A., Handsaker, R., Li, J., Lu, Y., Yanek, L.R., Keating, B. et al. (2013) Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. Hum. Mol. Genet., 22, 2529-2538.
23. Lo, K.S., Wilson, J.G., Lange, L.A., Folsom, A.R., Galarneau, G., Ganesh, S.K., Grant, S.F., Keating, B.J., McCarroll, S.A., Mohler, E.R. 3rd et al. (2011) Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans. Hum. Genet., 129, 307-317.
24. Guindo, A., Fairhurst, R.M., Doumbo, O.K., Wellems, T.E. and Diallo, D.A. (2007) X-linked G6PD deficiency protects hemizygous males but not heterozygous females against severe malaria. PLoS Med., 4, e66.
25. Taylor, H.A. Jr (2005) The Jackson Heart Study: an overview. Ethn. Dis., 15, S6-1-S6-3.
26. Wilson, J.G., Rotimi, C.N., Ekunwe, L., Royal, C.D., Crump, M.E., Wyatt, S.B., Steffes, M.W., Adeyemo, A., Zhou, J., Taylor, H.A. Jr. et al. (2005) Study design for genetic analysis in the Jackson Heart Study. Ethn. Dis., 15, S6-30-S6-37.
27. Evans, M.K., Lepkowski, J.M., Powe, N.R., LaVeist, T., Kuczmarski, M.F. and Zonderman, A.B. (2010) Healthy aging in neighborhoods of diversity across the life span (HANDLS): overcoming barriers to implementing a longitudinal, epidemiologic, urban study of health, race, and socioeconomic status. Ethn. Dis., 20, 267-275.
28. Li, Y., Willer, C.J., Ding, J., Scheet, P. and Abecasis, G.R. (2010) MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet. Epidemiol., 34, 816-834.
29. Howie, B., Fuchsberger, C., Stephens, M., Marchini, J. and Abecasis, G.R. (2012) Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat. Genet., 44, 955-959.
30. Alexander, D.H., Novembre, J. and Lange, K. (2009) Fast model-based estimation of ancestry in unrelated individuals. Genome Res., 19, 1655-1664.
31. Patterson, N., Hattangadi, N., Lane, B., Lohmueller, K.E., Hafler, D.A., Oksenberg, J.R., Hauser, S.L., Smith, M.W., O'Brien, S.J., Altshuler, D. et al. (2004) Methods for high-density admixture mapping of disease genes. Am. J. Hum. Genet., 74, 979-1000.
32. Deo, R.C., Reich, D., Tandon, A., Akylbekova, E., Patterson, N., Waliszewska, A., Kathiresan, S., Sarpong, D., Taylor, H.A. Jr and Wilson, J.G. (2009) Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study. PLoS Genet., 5, e1000342.
33. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J. et al. (2007) PLINK:a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
34. Price, A.L., Patterson, N.J., Plenge, R.M., Weinblatt, M.E., Shadick, N.A. and Reich, D. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet., 38, 904-909.
35. Cade, J.E., Moreton, J.A., O'Hara, B., Greenwood, D.C., Moor, J., Burley, V.J., Kukalizch, K., Bishop, D.T. and Worwood, M. (2005) Diet and genetic factors associated with iron status in middle-aged women. Am. J. Clin. Nutr., 82, 813-820.
36. Pruim, R.J., Welch, R.P., Sanna, S., Teslovich, T.M., Chines, P.S., Gliedt, T.P., Boehnke, M., Abecasis, G.R. and Willer, C.J. (2010) LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics, 26, 2336-2337.