The role of cubilin gene polymorphisms and their influence on 25(OH)D3 and 1,25(OH)2D3 plasma levels in type 1 diabetes patients

Journal of Steroid Biochemistry and Molecular Biology

Volumn 121, Issue 1-2, 2010, Pages 442-444

  Ramos Lopez, Elizabeth ^a   Lange, Brita ^a   Penna Martinez, Marissa ^a   Brück, Patrick ^b   Swiech, Karolina ^a   Mauf, Sabrina ^a   Kahles, Heinrich ^a   Badenhoop, Klaus ^a  

^a UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^b UNIVERSITY HOSPITAL GIESSEN   (Germany)

Author keywords

Cubilin; Type 1 Diabetes; Vitamin D

Indexed keywords

CALCIFEDIOL; CALCITRIOL; CUBILIN; CELL SURFACE RECEPTOR; INTRINSIC FACTOR-COBALAMIN RECEPTOR;

ARTICLE; CONTROLLED STUDY; DIABETIC PATIENT; DISEASE ASSOCIATION; DNA POLYMORPHISM; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PROTEIN FUNCTION; VITAMIN BLOOD LEVEL; VITAMIN DEFICIENCY; BLOOD; CHILD; COMPUTER PROGRAM; FEMALE; GENETIC POLYMORPHISM; GENETICS; MALE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RISK; STATISTICAL MODEL;

CALCIFEDIOL; CALCITRIOL; CHILD; DIABETES MELLITUS, TYPE 1; FEMALE; GENOTYPE; HUMANS; MALE; MODELS, STATISTICAL; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RECEPTORS, CELL SURFACE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RISK; SOFTWARE;

EID: 77954760987     PISSN: 09600760     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jsbmb.2010.03.087     Document Type: Article

References (13)

1. Bailey R., Cooper J.D., Zeitels L., Smyth D.J., Yang J.H., Walker N.M., Hyppönen E., Dunger D.B., Ramos-Lopez E., Badenhoop K., Nejentsev S., Todd J.A. Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes. Diabetes 2007, 56(10):2616-2621.
2. Driver J.P., Foreman O., Mathieu C., van Etten E., Serreze D.V. Comparative therapeutic effects of orally administered 1,25-dihydroxyvitamin D(3) and 1alpha-hydroxyvitamin D(3) on type-1 diabetes in non-obese diabetic mice fed a normal-calcaemic diet. Clin. Exp. Immunol. 2008, 151(1):76-85.
3. Lips P. Vitamin D physiology. Prog. Biophys. Mol. Biol. 2006, 92(1):4-8.
4. Christensen E.I., Nielsen R. Role of megalin and cubilin in renal physiology and pathophysiology. Rev. Physiol. Biochem. Pharmacol. 2007, 158:1-22.
5. Christensen E.I., Birn H. Megalin and cubilin: synergistic endocytic receptors in renal proximal tubule. Am. J. Physiol. Renal. Physiol. 2001, 280(4):562-573.
6. Willnow T.E., Nykjaer A. Pathways for kidney-specific uptake of the steroid hormone 25-hydroxyvitamin D3. Curr. Opin. Lipidol. 2002, 13(3):255-260.
7. Nykjaer A., Fyfe J.C., Kozyraki R., Leheste J.R., Jacobsen C., Nielsen M.S., Verroust P.J., Aminoff M., de la Chapelle A., Moestrup S.K., Ray R., Gliemann J., Willnow T.E., Christensen E.I. Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3). Proc. Natl. Acad. Sci. U.S.A. 2001, 98(24):13895-13900.
8. Littorin B., Blom P., Schölin A., Arnqvist H.J., Blohmé G., Bolinder J., Ekbom-Schnell A., Eriksson J.W., Gudbjörnsdottir S., Nyström L., Ostman J., Sundkvist G. Lower levels of plasma 25-hydroxyvitamin D among young adults at diagnosis of autoimmune type 1 diabetes compared with control subjects: results from the nationwide Diabetes Incidence Study in Sweden (DISS). Diabetologia 2006, 49(12):2847-2852.
9. Ramos-Lopez E., Brück P., Jansen T., Pfeilschifter J.M., Radeke H.H., Badenhoop K. CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients. J. Steroid. Biochem. Mol. Biol. 2007, 103(3-5):807-810.
10. Ramos-Lopez E., Brück P., Jansen T., Herwig J., Badenhoop K. CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans. Diabetes Metab. Res. Rev. 2007, 23(8):631-636.
11. Hyppönen E., Läärä E., Reunanen A., Järvelin M.R., Virtanen S.M. Intake of vitamin D and risk of type 1 diabetes: a birth-cohort study. Lancet 2001, 3(9292):1500-1503.
12. Nykjaer A., Dragun D., Walther D., Vorum H., Jacobsen C., Herz J., Melsen F., Christensen E.I., Willnow T.E. An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3. Cell 1999, 96(4):507-515.
13. Thrailkill K.M., Nimmo T., Bunn R.C., Cockrell G.E., Moreau C.S., Mackintosh S., Edmondson R.D., Fowlkes J.L. Microalbuminuria in type 1 diabetes is associated with enhanced excretion of the endocytic multiligand receptors megalin and cubilin. Diabetes Care 2009, 32(7):1266-1268.