Genetic associations with plasma B12, B6, and folate levels in an ischemic stroke population from the vitamin intervention for stroke prevention (VISP) trial

Frontiers in Public Health

Volumn 2, Issue AUG, 2014, Pages

  Keene, Keith L ^a,b   Chen, Wei Min ^a,c   Chen, Fang ^a   Williams, Stephen R ^a   Elkhatib, Stacey D ^a   Hsu, Fang Chi ^d   Mychaleckyj, Josyf C ^a,c   Doheny, Kimberly F ^e   Pugh, Elizabeth W ^e   Ling, Hua ^e   Laurie, Cathy C ^f   Gogarten, Stephanie M ^f   Madden, Ebony B ^g   Worrall, Bradford B ^a,c   Sale, Michele M ^a,c  

^a UNIVERSITY OF VIRGINIA   (United States)

^b EAST CAROLINA UNIVERSITY   (United States)

^c UNIVERSITY OF VIRGINIA   (United States)

^d WAKE FOREST SCHOOL OF MEDICINE   (United States)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF WASHINGTON   (United States)

^g NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Association; B12; B6; Folate; GWAS; One carbon metabolism; VISP

Indexed keywords

EID: 85017153592     PISSN: None     EISSN: 22962565     Source Type: Journal    
DOI: 10.3389/fpubh.2014.00112     Document Type: Article

References (49)

1. Al-Tahan J, Gonzalez-Gross M, Pietrzik K. B-vitamin status and intake in European adolescents. A review of the literature. Nutr Hosp (2006) 21(4):452-65.
2. Koury MJ, Ponka P. New insights into erythropoiesis: the roles of folate, vitamin B12, and iron. Annu Rev Nutr (2004) 24:105-31. doi:10.1146/annurev.nutr.24. 012003.132306
3. Kirsch SH, HermannW, Obeid R. Genetic defects in folate and cobalamin pathways affecting the brain. Clin Chem Lab Med (2013) 51(1):139-55. doi:10.1515/cclm-2012-0673
4. Webb AL, Villamor E. Update: effects of antioxidant and non-antioxidant vitamin supplementation on immune function. Nutr Rev (2007) 65(5):181-217. doi:10.1111/j.1753-4887.2007.tb00298.x
5. Spinneker A, Sola R, Lemmen V, Castillo MJ, Pietrzik K, Gonzalez-Gross M. Vitamin B6 status, deficiency and its consequences - an overview. Nutr Hosp (2007) 22(1):7-24.
6. Stabler SP. Clinical practice. Vitamin B12 deficiency. N Engl J Med (2013) 368(2):149-60. doi:10.1056/NEJMcp1113996
7. Yetley EA, Pfeiffer CM, Phinney KW, Bailey RL, Blackmore S, Bock JL, et al. Biomarkers of vitamin B-12 status in NHANES: a roundtable summary. Am J Clin Nutr (2011) 94(1):313S-21S. doi:10.3945/ajcn.111.013243
8. Reynolds EH. The neurology of folic acid deficiency. Handb Clin Neurol (2014) 120:927-43. doi:10.1016/B978-0-7020-4087-0.00061-9
9. Stover PJ. Polymorphisms in 1-carbon metabolism, epigenetics and folate-related pathologies. J Nutrigenet Nutrigenomics (2011) 4(5):293-305. doi:10. 1159/000334586
10. Selhub J, Jacques PF, Wilson PW, Rush D, Rosenberg IH. Vitamin status and intake as primary determinants of homocysteinemia in an elderly population. JAMA (1993) 270:2693-8. doi:10.1001/jama.270.22.2693
11. Wald DS, Law M, Morris JK. Homocysteine and cardiovascular disease: Evidence on causality from a meta-analysis. BMJ (2002) 325(7374):1202. doi:10. 1136/bmj.325.7374.1202
12. Ntaios GC, Savopoulos CG, Chatzinikolaou AC, Kaiafa GD, Hatzitolios A. Vita-mins and stroke: the homocysteine hypothesis still in doubt. Neurologist (2008) 14(1):2-4. doi:10.1097/01.nrl.0000253066.85963.aa
13. Homocysteine Lowering Trialists' Collaboration. Lowering blood homocysteine with folic acid based supplements: meta-analysis of randomised trials. BMJ (1998) 316:894-8. doi:10.1136/bmj.316.7135.894
14. McDowell MA, Lacher DA, Pfeiffer CM, Mulinare J, Picciano MF, Radar JI, et al. Blood Folate Levels: The Latest NHANES Results. NCHS Data Brief (2008) 6:1-8.
15. Rajan S, Wallace JI, Beresford SA, Brodkin KI, Allen RA, Stabler SP. Screening for cobalamin deficiency in geriatric outpatients: prevalence and influence of synthetic cobalamin intake. J Am Geriatr Soc (2002) 50(4):624-30. doi:10.1046/j.1532-5415.2002.50155.x
16. Pennypacker LC, Allen RH, Kelly JP, Matthews LM, Grigsby J, Kaye K, et al. High prevalence of cobalamin deficiency in elderly outpatients. J Am Geriatr Soc (1992) 40(12):1197-204.
17. Matchar DB, McCrory DC, Millington DS, Feussner JR. Performance of the serum cobalamin assay for diagnosis of cobalamin deficiency. Am J Med Sci (1994) 308(5):276-83. doi:10.1097/00000441-199411000-00004
18. Imerslund O. Idiopathic chronic megaloblastic anemia in children. Acta Paediatr Suppl (1960) 49(Suppl 119):1-115. doi:10.1111/j.1651-2227.1960.tb07724.x
19. Grasbeck R. Familiar selective vitamin B12 malabsorption with proteinuria. A pernicious anemia-like syndrome. Nord Med (1960) 63:322-3.
20. AminoffM, Tahvanainen E, Grasbeck R, Weissenbach J, Broch H, de la Chapelle A. Selective intestinal malabsorptionof vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage. Am J Hum Genet (1995) 57(4):824-31.
21. Tanner SM, AminoffM, Wright FA, Liyanarachchi S, Kuronen M, Saarinen A, et al. Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. Nat Genet (2003) 33(3):426-9. doi:10.1038/ng1098
22. Hazra A, Kraft P, Lazarus R, Chen C, Chanock SJ, Jacques P, et al. Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. Hum Mol Genet (2009) 18(23):4677-87. doi:10.1093/hmg/ddp428
23. Grarup N, Sulem P, Sandholt CH, Thorleifsson G, Ahluwalia TS, Steinthors-dottir V, et al. Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets. PLoS Genet (2013) 9(6):e1003530. doi:10.1371/journal.pgen.1003530
24. Lin X, Lu D, Gao Y, Tao S, Yang X, Feng J, et al. Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men. Hum Mol Genet (2012) 21(11):2610-7. doi:10.1093/hmg/dds062
25. Tanaka T, Scheet P, GiustiB, BandinelliS, Piras MG, UsalaG, et al. Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am J Hum Genet (2009) 84(4):477-82. doi:10.1016/j.ajhg.2009. 02.011
26. Spence JD, Howard VJ, Chambless LE, Malinow MR, Pettigrew LC, Stampfer M, et al. Vitamin Intervention for Stroke Prevention (VISP) trial: rationale and design. Neuroepidemiology (2001) 20(1):16-25. doi:10.1159/000054753
27. Toole JF. Vitamin intervention for stroke prevention. J Neurol Sci (2002) 20(3-204):121-4. doi:10.1016/S0022-510X(02)00265-4
28. Toole JF, Malinow MR, Chambless LE, Spence JD, Pettigrew LC, HowardVJ, et al. Lowering homocysteine in patients with ischemic stroke to prevent recurrent stroke, myocardial infarction, and death the vitamin intervention for stroke prevention (VISP) randomized controlled trial. JAMA (2004) 291:565-75. doi:10.1001/jama.291.5.565
29. Laurie CC, Doheny KF, Mirel DB, Pugh EW, Bierut LJ, Bhangale T, et al. Quality control and quality assurance in genotypic data for genome-wide association studies. Genet Epidemiol (2010) 34:591-602. doi:10.1002/gepi.20516
30. ManichaikulA, MychaleckyjJC, Rich SS, Daly K, SaleM, Chen WM. Robust relationship inference in genome-wide association studies. Bioinformatics (2010) 26(22):2867-73. doi:10.1093/bioinformatics/btq559
31. StoneN, PangilinanF, MolloyAM, ShaneB, ScottJM, UelandPM, et al. Bioinfor-matic and genetic association analysis of microRNA target sites in one-carbon metabolism genes. PLoS One (2011) 6(7):e21851. doi:10.1371/journal.pone. 0021851
32. Wang T, Zeng Z, Li T, Liu J, Li J, Li Y, et al. Common SNPs in myelin transcription factor 1-like (MYT1L): association with major depressive disorder in the Chinese Han population. PLoS One (2010) 5(10):e13662. doi:10.1371/journal. pone.0013662
33. Van Den Bossche MJ, Strazisar M, Cammaerts S, Liekens AM, Vandeweyer G, Depreeuw V, et al. Identification of rare copy number variants in high burden schizophrenia families. Am J Med Genet B Neuropsychiatr Genet (2013) 162B(3):273-82. doi:10.1002/ajmg.b.32146
34. Lee Y, Mattai A, Long R, Rapoport JL, Gogtay N, Addington AM. Microdupli-cations disrupting the MYT1L gene (2p25.3) are associated with schizophrenia. Psychiatr Genet (2012) 22(4):206-9. doi:10.1097/YPG.0b013e328353ae3d
35. Li W, Wang X, Zhao J, Lin J, Song XQ, Yang Y, et al. Association study of myelin transcription factor 1-like polymorphisms with schizophrenia in Han Chinese population. Gene Brain Behav (2012) 11(1):87-93. doi:10.1111/j.1601-183X. 2011.00734.x
36. Nguyen CT, Gracely EJ, Lee BK. Serum folate but not vitamin B-12 concentrations are positively associated with cognitive test scores in children aged 6-16 years. J Nutr (2013) 143(4):500-4. doi:10.3945/jn.112.166165
37. Kristiansen M, Kozyraki R, Jacobsen C, Nexo E, Verroust PJ, Moestrup SK. Molecular dissection of the intrinsic factor-vitamin B12 receptor, cubilin, discloses regions important for membrane association and ligand binding. J. Biol. Chem (1999) 274:20540-4. doi:10.1074/jbc.274.29.20540
38. AminoffM, Carter JE, Chadwick RB, Johnson C, Gräsbeck R, Abdelaal MA, et al. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Gene (1999) 21(3):309-13. doi:10.1038/6831
39. Owczarek-Lipska M, JagannathanV, Drögemüller C, Lutz S, GlanemannB, Leeb T, et al. A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).PLoS One (2013) 8(4):e61144. doi:10.1371/journal.pone.0061144
40. Fyfe JC, Hemker SL, Venta PJ, Fitzgerald CA, Outerbridge CA, Myers SL, et al. An exon53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs. Mol Genet Metab (2013) 109(4):390-6. doi:10.1016/j.ymgme.2013.05.006
41. Hazra A, Kraft P, Selhub J, Giovannucci EL, Thomas G, Hoover RN, et al. Common variants of FUT2 are associated with plasma vitamin B12 levels. Nat Genet (2008) 40(10):1160-2. doi:10.1038/ng.210
42. Hsu FC, Sides EG, Mychaleckyj JC, Worrall BB, Elias GA, Liu Y, et al. Transcobalamin 2 variant associated with poststroke homocysteine modifies recurrent stroke risk. Neurology (2011) 77(16):1543-50. doi:10.1212/WNL. 0b013e318233b1f9
43. Donato JL, Ko J, Kutok JL, Cheng T, Shirakawa T, Mao XQ, et al. Human HTm4 is a hematopoietic cell cycle regulator. J Clin Invest (2002) 109(1):51-8. doi:10.1172/JCI200214025
44. Toprak B, Yalcin HZ, Colak A. Vitamin B12 and folate deficiency: should we use different cutoffvalue for hematologic disorders? Int J Lab Hematol (2014) 36(4):409-14. doi:10.1111/ijlh.12158
45. Krintel SB, Palermo G, Johansen JS, Germer S, Essioux L, Benayed R, et al. Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNFa inhibitors in patients with rheumatoid arthritis. Phar-macogenetGenomics (2012) 22(8):577-89. doi:10.1097/FPC.0b013e3283544043
46. Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, et al. Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat Genet (2010) 42(3):210-5. doi:10.1038/ng.531
47. Vardy ER, Kellett KA, Cocklin SL, Hooper NM. Alkaline phosphataseisincreased in both brain and plasma in Alzheimer's disease. Neurodegener Dis (2012) 9(1):31-7. doi:10.1159/000329722
48. Wang HK, Tsai KJ, Huang CY, Wang LC, Lu K, Chen HJ, et al. Newly diagnosed dementia and increased risk of hemorrhagic stroke: A nationwide population-based study. Curr Alzheimer Res (2014) 11(3):291-8. doi:10.2174/1567205011666140131120351
49. Pruim RJ, Welch RP, Sanna S, Teslovich TM, Chines PS, Gliedt TP, et al. Locus-Zoom: Regional visualization of genome-wide association scan results. Bioin-formatics (2010) 26(18):2336.2337. doi:10.1093/bioinformatics/btq419