Effect of genotype on micronutrient absorption and metabolism: A review of iron, copper, iodine and selenium, and folates

International Journal for Vitamin and Nutrition Research

Volumn 77, Issue 3, 2007, Pages 205-216

  Mithen, Richard ^a  

^a INSTITUTE OF FOOD RESEARCH   (United Kingdom)

Author keywords

Folates; Genetic polymorphisms; Iodine; Iron; Micronutrients; Selenium

Indexed keywords

COPPER; FOLIC ACID; IODINE; IRON; SELENIUM;

ABSORPTION; CONFERENCE PAPER; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HOMEOSTASIS; HUMAN; METABOLISM; NUTRIENT UPTAKE; NUTRIGENOMICS;

COPPER; FEMALE; FOLIC ACID; FOOD, FORTIFIED; GENOTYPE; HUMANS; INTESTINAL ABSORPTION; IODINE; IRON, DIETARY; MALE; MICRONUTRIENTS; POLYMORPHISM, GENETIC; SELENIUM;

EID: 35348992179     PISSN: 03009831     EISSN: None     Source Type: Journal    
DOI: 10.1024/0300-9831.77.3.205     Document Type: Conference Paper

References (61)

1. Mutch, D.M., Wahli, W. and Williamson, G. (2005) Nutrigenomics and nutrigenetics: the emerging faces of nutrition. FASEB J. 19, 1602-1616.
2. Beutler, E. (2006) HEMOCHROMATOSIS: Genetics and Pathophysiology. Annu. Rev. Med. 57, 331-347.
3. Miret, S., Simpson, R.J. and McKie, A.T. (2003) Physiology and molecular biology of dietary iron absorption. Annu. Rev. Nutr. 23, 283-301.
4. Shayeghi, M., Latunde-Dada, G.O., Oakhill, J.S., Laftah, A.H., Takeuchi, K., Halliday, N., Khan, Y., Warley, A., McCann, F.E., Hider, R.C., Frazer, D.M., Anderson, G.J., Vulpe, C.D., Simpson, R.J. and McKie, A.T. (2005) Identification of an intestinal heme transporter. Cell 122, 789-801.
5. Mackenzie, B. and Garrick, M.D. (2005) Iron Imports. II. Iron uptake at the apical membrane in the intestine. Am. J. Physiol. Gastrointest. Liver Physiol. 289, G981-986.
6. Wessling-Resnick, M. (2006) Iron imports. III. Transfer of iron from the mucosa into circulation. Am. J. Physiol. Gastrointest. Liver Physiol. 290, G1-6.
7. McKie, A.T. (2005) A ferrireductase fills the gap in the transferrin cycle. Nat. Genet. 37, 1159-1160.
8. Ohgami, R.S., Campagna, D.R., Greer, E.L., Antiochos, B., McDonald, A., Chen, J., Sharp, J.J., Fujiwara, Y., Barker, J.E. and Fleming, M.D. (2005) Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells. Nat. Genet. 37, 1264-1269.
9. Ganz, T. and Nemeth, E. (2006) Iron imports. IV. Hepcidin and regulation of body iron metabolism. Am. J. Physiol. Gastrointest. Liver Physiol. 290, G199-203.
10. Beutler, E. (2003) Penetrance of haemochromatosis. Gut 52, 610-611.
11. Lucotte, G. and Dieterlen, F. (2003) A European allele map of the C282Y mutation of hemochromatosis: Celtic versus Viking origin of the mutation? Blood Cells Mol. Dis. 31, 262-267.
12. McNamara, L., Gordeuk, V.R. and MacPhail, A.P. (2005) Ferroportin (Q248H) mutations in African families with dietary iron overload. J. Gastroenterol. Hepatol. 20, 1855-1858.
13. Kasvosve, I., Gomo, Z.A., Nathoo, K.J., Matibe, P., Mudenge, B., Loyevsky, M. and Gordeuk, V.R. (2005) Effect of ferroportin Q248H polymorphism on iron status in African children. Am. J. Clin. Nutr. 82, 1102-1106.
14. Hunt, J.R. and Zeng, H. (2004) Iron absorption by heterozygous carriers of the HFE C282Y mutation associated with hemochromatosis. Am. J. Clin. Nutr. 80, 924-931.
15. Roe, M.A., Heath, A.L., Oyston, S.L., Macrow, C., Hoogewerff, J.A., Foxall, R., Dainty, J.R., Majsak-Newman, G., Willis, G. and Fairweather-Tait, S.J. (2005) Iron absorption in male C282Y heterozygotes. Am. J. Clin. Nutr. 81, 814-821.
16. Barry, E., Derhammer, T. and Elsea, S.H. (2005) Prevalence of three hereditary hemochromatosis mutant alleles in the Michigan Caucasian population. Community Genet. 8, 173-179.
17. Lee, P., Gelbart, T., West, C., Halloran, C. and Beutler, E. (2002) Seeking candidate mutations that affect iron homeostasis. Blood Cells Mol. Dis. 29, 471-487.
18. Uriu-Adams, J.Y. and Keen, C.L. (2005) Copper, oxidative stress, and human health. Mol. Aspects Med. 26, 268-298.
19. Sharp, P. (2004) The molecular basis of copper and iron interactions. Proc. Nutr. Soc. 63, 563-569.
20. Shim, H. and Harris, Z.L. (2003) Genetic defects in copper metabolism. J. Nutr. 133, 1527S-1531S.
21. Vrabelova, S., Letocha, O., Borsky, M. and Kozak, L. (2005) Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Mol. Genet. Metab. 86, 277-285.
22. Hellman, N.E. and Gitlin, J.D. (2002) Ceruloplasmin metabolism and function. Annu. Rev. Nutr. 22, 439-458.
23. Vassiliev, V., Harris, Z.L. and Zatta, P. (2005) Ceruloplasmin in neurodegenerative diseases. Brain Res. Rev. 49, 633-640.
24. Vitti, P., Delange, F., Pinchera, A., Zimmermann, M. and Dunn, J.T. (2003) Europe is iodine deficient. Lancet 361, 1226.
25. Szinnai, G., Kosugi, S., Derrien, C., Lucidarme, N., David, V., Czernichow, P. and Polak, M. (2006) Extending the Clinical Heterogeneity of Iodide Transport Defect (ITD): A novel Mutation R124H of the Sodium/Iodide Symporter (NIS) Gene and Review of Genotype-Phenotype Correlations in ITD. J. Clin. Endocrinol. Metab.
26. Dohan, O., De la Vieja, A., Paroder, V., Riedel, C., Artani, M., Reed, M., Ginter, C.S. and Carrasco, N. (2003) The sodium/iodide Symporter (NIS): characterization, regulation, and medical significance. Endocr. Rev. 24, 48-77.
27. Mentuccia, D., Proietti-Pannunzi, L., Tanner, K., Bacci, V., Pollin, T.I., Poehlman, E.T., Shuldiner, A.R. and Celi, F.S. (2002) Association between a novel variant of the human type 2 deiodinase gene Thr92Ala and insulin resistance: evidence of interaction with the Trp64Arg variant of the beta-3-adrenergic receptor. Diabetes 51, 880-883.
28. Guo, T.W., Zhang, F.C., Yang, M.S., Gao, X.C., Bian, L., Duan, S.W., Zheng, Z.J., Gao, J.J., Wang, H., Li, R.L., Feng, G.Y., St Clair, D. and He, L. (2004) Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China. J. Med. Genet. 41, 585-590.
29. Moreno-Reyes, R., Mathieu, F., Boelaert, M., Begaux, F., Suetens, C., Rivera, M.T., Neve, J., Perlmutter, N. and Vanderpas, J. (2003) Selenium and iodine supplementation of rural Tibetan children affected by Kashin-Beck osteoarthropathy. Am. J. Clin. Nutr. 78, 137-144.
30. Moreno-Reyes, R., Suetens, C., Mathieu, F., Begaux, F., Zhu, D., Rivera, M.T., Boelaert, M., Neve, J., Perlmutter, N. and Vanderpas, J. (1998) Kashin-Beck osteoarthropathy in rural Tibet in relation to selenium and iodine status. N. Engl. J. Med. 339, 1112-1120.
31. Moreno-Reyes, R., Suetens, C., Mathieu, F., Begaux, F., Zhu, D., Rivera, T., Boelaert, M., Neve, J., Perlmutter, N. and Vanderpas, J. (2001) Kashin-Beck disease and iodine deficiency in Tibet Int. Orthop. 25, 164-166.
32. Vanderpas, J.B., Contempre, B., Duale, N.L., Deckx, H., Bebe, N., Longombe, A.O., Thilly, C.H., Diplock, A.T. and Dumont, J.E. (1993) Selenium deficiency mitigates hypothyroxinemia in iodine-deficient subjects. Am. J. Clin. Nutr. 57, 271S-275S.
33. Vanderpas, J.B., Contempre, B., Duale, N.L., Goossens, W., Bebe, N., Thorpe, R., Ntambue, K., Dumont, J., Thilly, C.H. and Diplock, A.T. (1990) Iodine and selenium deficiency associated with cretinism in northern Zaire. Am. J. Clin. Nutr. 52, 1087-1093.
34. Vanderpas, J.B., Dumont, J.E., Contempre, B. and Diplock, A.T. (1992) Iodine and selenium deficiency in northern Zaire. Am. J. Clin. Nutr. 56, 957-958.
35. Kohrle, J. (2005) Selenium and the control of thyroid hormone metabolism. Thyroid 15, 841-853.
36. Jackson, M.J., Dillon, S.A., Broome, C.S., McArdle, A., Hart, C.A. and McArdle, F. (2004) Are there functional consequences of a reduction in selenium intake in UK subjects? Proc. Nutr. Soc. 63, 513-517.
37. Matsui, M., Oshima, M., Oshima, H., Takaku, K., Maruyama, T., Yodoi, J. and Taketo, M.M. (1996) Early embryonic lethality caused by targeted disruption of the mouse thioredoxin gene. Dev. Biol. 178, 179-185.
38. Moustafa, M.E., Kumaraswamy, E., Zhong, N., Rao, M., Carlson, B.A. and Hatfield, D.L. (2003) Models for assessing the role of selenoproteins in health. J. Nutr. 133, 2494S-2496S.
39. Berry, M.J. (2005) Insights into the hierarchy of selenium incorporation. Nat. Genet. 37, 1162-1163.
40. Dumitrescu, A.M., Liao, X.H., Abdullah, M.S., Lado-Abeal, J., Majed, F.A., Moeller, L.C., Boran, G., Schomburg, L., Weiss, R.E. and Refetoff, S. (2005) Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat. Genet. 37, 1247-1252.
41. Hesketh, J. (2004) 3′-Untranslated regions are important in mRNA localization and translation: lessons from selenium and metallothionein. Biochem. Soc. Trans. 32, 990-993.
42. Villette, S., Kyle, J.A., Brown, K.M., Pickard, K., Milne, J.S., Nicol, F., Arthur, J.R. and Hesketh, J.E. (2002) A novel single nucleotide polymorphism in the 3′ untranslated region of human glutathione peroxidase 4 influences lipoxygenase metabolism. Blood Cells Mol. Dis. 29, 174-178.
43. van der Put, N.M., Steegers-Theunissen, R.P., Frosst, P., Trijbels, F.J., Eskes, T.K., van den Heuvel, L.P., Mariman, E.C., den Heyer, M., Rozen, R. and Blom, H.J. (1995) Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346, 1070-1071.
44. Engbersen, A.M., Franken, D.G., Boers, G.H., Stevens, E.M., Trijbels, F.J. and Blom, H.J. (1995) Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am. J. Hum. Genet. 56, 142-150.
45. Kluijtmans, L.A., van den Heuvel, L.P., Boers, G.H., Frosst, P., Stevens, E.M., van Oost, B.A., den Heijer, M., Trijbels, F.J., Rozen, R. and Blom, H.J. (1996) Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am. J. Hum. Genet. 58, 35-41.
46. Wang, B., Jin, F., Kan, R., Ji, S., Zhang, C., Lu, Z., Zheng, C., Yang, Z. and Wang, L. (2005) Association of MTHFR gene polymorphism C677T with susceptibility to late-onset Alzheimer's disease. J. Mol. Neurosci. 27, 23-27.
47. Scher, A.I., Terwindt, G.M., Verschuren, W.M., Kruit, M.C., Blom, H.J., Kowa, H., Frants, R.R., van den Maagdenberg, A.M., van Buchem, M., Ferrari, M.D. and Launer, L.J. (2006) Migraine and MTHFR C677T genotype in a population-based sample. Ann. Neurol. 59, 372-375.
48. Piyathilake, C.J., Macaluso, M., Johanning, G.L., Whiteside, M., Heimburger, D.C. and Giuliano, A. (2000) Methylenetetrahydrofolate reductase (MTHFR) polymorphism increases the risk of cervical intraepithelial neoplasia. Anticancer Res. 20, 1751-1757.
49. Song, C., Xing, D., Tan, W., Wei, Q. and Lin, D. (2001) Methylenetetrahydrofolate reductase polymorphisms increase risk of esophageal squamous cell carcinoma in a Chinese population. Cancer Res. 61, 3272-3275.
50. Esteller, M., Garcia, A., Martinez-Palones, J.M., Xercavins, J. and Reventos, J. (1997) Germ line polymorphisms in cytochrome-P450 1A1 (C4887 CYP1A1) and methylenetetrahydrofolate reductase (MTHFR) genes and endometrial cancer susceptibility. Carcinogenesis 18, 2307-2311.
51. Ma, J., Stampfer, M.J., Giovannucci, E., Artigas, C., Hunter, D.J., Fuchs, C., Willett, W.C., Selhub, J., Hennekens, C.H. and Rozen, R. (1997) Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. Cancer Res. 57, 1098-1102.
52. Krajinovic, M., Lamothe, S., Labuda, D., Lemieux-Blanchard, E., Theoret, Y., Moghrabi, A. and Sinnett, D. (2004) Role of MTHFR genetic polymorphisms in the susceptibility to childhood acute lymphoblastic leukemia. Blood 103, 252-257.
53. Wilcken, B., Bamforth, F., Li, Z., Zhu, H., Ritvanen, A., Renlund, M., Stoll, C., Alembik, Y., Dott, B., Czeizel, A.E., Gelman-Kohan, Z., Scarano, G., Bianca, S., Ettore, G., Tenconi, R., Bellato, S., Scala, I., Mutchinick, O.M., Lopez, M.A., de Walle, H., Hofstra, R., Joutchenko, L., Kavteladze, L., Bermejo, E., Martinez-Frias, M.L., Gallagher, M., Erickson, J.D., Vollset, S.E., Mastroiacovo, P., Andria, G. and Botto, L.D. (2003) Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide. J. Med. Genet. 40, 619-625.
54. Rosenberg, N., Murata, M., Ikeda, Y., Opare-Sem, O., Zivelin, A., Geffen, E. and Seligsohn, U. (2002) The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans. Am. J. Hum. Genet. 70, 758-762.
55. Honein, M.A., Paulozzi, L.J., Mathews, T.J., Erickson, J.D. and Wong, L.Y. (2001) Impact of folic acid fortification of the US food supply on the occurrence of neural tube defects. JAMA 285, 2981-2986.
56. Canfield, M.A., Collins, J.S., Botto, L.D., Williams, L.J., Mai, C.T., Kirby, R.S., Pearson, K., Devine, O. and Mulinare, J. (2005) Changes in the birth prevalence of selected birth defects after grain fortification with folic acid in the United States: findings from a multi-state population-based study. Birth Defects Res. A. Clin. Mol. Teratol. 73, 679-689.
57. Botto, L.D., Lisi, A., Robert-Gnansia, E., Erickson, J.D., Vollset, S.E., Mastroiacovo, P., Botting, B., Cocchi, G., de Vigan, C., de Walle, H., Feijoo, M., Irgens, L.M., McDonnell, B., Merlob, P., Ritvanen, A., Scarano, G., Siffel, C., Metneki, J., Stoll, C., Smithells, R. and Goujard, J. (2005) International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working? BMJ 330, 571.
58. Kirke, P.N., Mills, J.L., Whitehead, A.S., Molloy, A. and Scott, J.M. (1996) Methylenetetrahydrofolate reductase mutation and neural tube defects. Lancet 348, 1037-1038.
59. Johanning, G.L., Tamura, T., Johnston, K.E. and Wenstrom, K.D. (2000) Comorbidity of 5,10-methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms and risk for neural tube defects. J. Med. Genet. 37, 949-951.
60. Johanning, G.L., Wenstrom, K.D. and Tamura, T. (2002) Changes in frequencies of heterozygous thermolabile 5,10-methylenetetrahydrofolate reductase gene in fetuses with neural tube defects. J. Med. Genet. 39, 366-367.
61. Muñoz-Moran, E., Dieguez-Lucena, J.L., Fernandez-Arcas, N., Peran-Mesa, S. and Reyes-Engel, A. (1998) Genetic selection and folate intake during pregnancy. Lancet 352, 1120-1121.