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Genes that associate with serum B₁₂ and folate levels are in pathways affecting their metabolism.

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posted on 2013-06-06, 00:55 authored by Niels Grarup, Patrick Sulem, Camilla H. Sandholt, Gudmar Thorleifsson, Tarunveer S. Ahluwalia, Valgerdur Steinthorsdottir, Helgi Bjarnason, Daniel F. Gudbjartsson, Olafur T. Magnusson, Thomas Sparsø, Anders Albrechtsen, Augustine Kong, Gisli Masson, Geng Tian, Hongzhi Cao, Chao Nie, Karsten Kristiansen, Lise Lotte Husemoen, Betina Thuesen, Yingrui Li, Rasmus Nielsen, Allan Linneberg, Isleifur Olafsson, Gudmundur I. Eyjolfsson, Torben Jørgensen, Jun Wang, Torben Hansen, Unnur Thorsteinsdottir, Kari Stefánsson, Oluf Pedersen

Genes previously identified to harbor variants regulating serum levels of B₁₂ are shown in green. In blue are novel genes identified in the present study. In red, genes containing variants previously suggested to associate with serum folate and in purple are novel genes for serum folate. B12: vitamin B₁₂; HC: Heptocorrin (TCN1); IF: Intrinsic factor; R-A-P: Receptor-Associated-Protein; CUBN: cubilin (intrinsic factor-cobalamin receptor); TCII: Transcobalamin II (TCN2); TCII-R: Transcobalamin II receptor (CD320); MMACHC: methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria; MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type; ABDC4: ATP-binding cassette, sub-family D (ALD), member 4; LMBD1: LMBR1 domain containing 1; FOLR1–3: folate receptors 1–3; Ado-B12: Adenosyl-cobalamin; Me-B12: Methyl-cobalamin; Me-mal-CoA: Methyl-malonyl-CoenzymeA; Suc-CoA: Succinyl-CoenzymeA; MUT: methylmalonyl-CoA mutase; H. pylori: Helicobacter pylori; DHFR: Dihydrofolate reductase; MS: methionin synthase; THF: Tetrahydrofolate; 5,10-MTHF: 5,10-Methyl-tetrahydrofolate; Hcy: Homocysteine MTHFR: 5-methyl-tetrahydrafolate reductase.