Synergism of CYP2R1 and CYP27B1 polymorphisms and susceptibility to type 1 diabetes in Egyptian children

Cellular Immunology

Volumn 279, Issue 1, 2012, Pages 42-45

  Hussein, Atef G ^a   Mohamed, Randa H ^a   Alghobashy, Ashgan A ^a  

^a ZAGAZIG UNIVERSITY   (Egypt)

Author keywords

CYP27B1; CYP2R1; Polymorphism; Type 1 diabetes

Indexed keywords

25ALPHA HYDROXYLASE; OXYGENASE; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA POLYMORPHISM; EGYPT; FEMALE; GENOTYPE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROTEIN INTERACTION; RISK ASSESSMENT; SCHOOL CHILD;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; ADOLESCENT; ALLELES; ANALYSIS OF VARIANCE; CALCIUM; CHILD; CHOLESTANETRIOL 26-MONOOXYGENASE; DIABETES MELLITUS, TYPE 1; EGYPT; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; VITAMIN D;

EID: 84871653536     PISSN: 00088749     EISSN: 10902163     Source Type: Journal    
DOI: 10.1016/j.cellimm.2012.08.006     Document Type: Article

References (26)

1. Geographic patterns of childhood insulin-dependent diabetes mellitus. Diabetes Metab. Res. Rev. 1998, 37:1113-1119. Diabetes Epidemiology Research International Group.
2. Pozzilli P., Manfrini S., Crin'o A., Picardi A., Leomanni C., Cherubini V., Valente L., Khazrai M., Visalli N. Low levels of 25-hydroxyvitamin D3 and 1,25-dihydroxyvitamin D3 in patients with newly diagnosed type 1 diabetes. Horm. Metab. Res. 2005, 37:680-683.
3. Jones G., Strugnell S.A., DeLuca H.F. Current understanding of the molecular actions of vitamin D. Physiol. Rev. 1998, 78:1193-1231.
4. Cheng J.B., Motola D.L., Mangelsdorf D.J., Russell D.W. De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25- hydroxylase. J. Biol. Chem. 2003, 278:38084-38093.
5. Cheng J.B., Levine M.A., Bell N.H., Mangelsdorf D.J., Russell D.W. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. Proc. Natl. Acad. Sci. USA 2004, 101:7711-7715.
6. Ramos-Lopez E., Regulla K., Pani M.A., Krause M., Usadel K.H., Badenhoop K. CYP27B1 polymorphisms variants are associated with type 1 diabetes mellitus in Germans. J. Steroid Biochem. Mol. Biol. 2004, 90:155-157.
7. Gregori S., Giarratana N., Smiroldo S., Uskokovic M., Adorini L. A 1α,25-Dihydroxyvitamin D3 analog enhances regulatory t-cells and arrests autoimmune diabetes in nod mice. Diabetes Metab. Res. Rev. 2002, 51:1367-1374.
8. Diagnosis and classification of diabetes mellitus. Diabetes Care 2010, 33:S62. American Diabetes Association.
9. Rosen C.J. Vitamin D Insufficiency. N. Engl. J. Med. 2011, 364:248-254.
10. Ramos-Lopez E., Br̈uck 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, 23:631-636.
11. Jennings C.E., Owen C.J., Wilson V., Pearce S.H.S. A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population. J. Mole. Endocrinol. 2005, 34:859-863.
12. Rothman K.J. Synergy and antagonism in cause-effect relationship. Am. J. Epidemiol. 1974, 99:385-388.
13. Cooper J.D., Smyth D.J., Walker N.M., Stevens H., Burren O.S., Wallace C., Greissl C., Ramos-Lopez E., Hypponen E., Dunger D.B., Spector T.D., Ouwehand W.H., Wang T.J., Badenhoop K., Todd J.A. Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease Type 1 diabetes. Diabetes Metab. Res. Rev. 2011, 60:1624-1631.
14. Bailey R., Cooper J.D., Zeitels L., Smyth D.J., Yang J.H.M., Walker N.M., Hyppö nen 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 Metab. Res. Rev. 2007, 56:2616-2621.
15. Fichna M., Zurawek M., Januszkiewicz-Lewandowska D., Fichna P., Nowak J. PTPN22, PDCD1 and CYP27B1 polymorphisms and susceptibility to type 1 diabetes in Polish patients. Int. J. Immunogenet. 2010, 37:367-372.
16. Pani M.A., Regulla K., Segni M., Krause M., Hofmann S., Hufner M., Herwig J. Vitamin D 1α-hydroxylase (CYP1α) polymorphism in Graves' disease, Hashimoto's thyroiditis and type 1 diabetes mellitus. Eur. J. Endocrinol. 2002, 146:777-781.
17. Pozzilli P., Manfrini S., Crino A., Picardi A., Leomanni C., Cherubini V., Valente M., Khazrai N., Visalli N. Low levels of 25- hydroxyvitamin D3 and 1,25-dihydroxyvitamin D3 in patients with newly diagnosed type 1 diabetes. Horm. Metab. Res. 2005, 37:680-683.
18. Baumgartl H.L., Standl E., Schmidt-Gayk H., Kolb H.J., Janka H.U., Ziegler A.G. Changes of Vitamin D3 serum concentrations at the onset of immunemediated type 1 (insulin-dependent) diabetes mellitus. Diabetes Res. 1991, 16:145-148.
19. Ramos-Lopez E., Br̈uck 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, 103:807-810.
20. Kitanaka S., Takeyama K., Murayama A., Sato T., Okumura K., Nogami M., Hasegawa Y., Niimi H., Yanagisawa J., Tanaka T., Kato S. Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. N. Engl. J. Med. 1998, 338:653-661.
21. Wang J.T., Lin C.J., Burridge S.M., Fu G.K., Labuda M., Portale A.A., Miller W.L. Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. Am. J. Hum. Genet. 1998, 63:1694-1702.
22. Bland R., Markovic D., Hills C.E., Hughes S.V., Chan S.L., Squires P.E., Hewison M. Expression of 25-hydroxyvitamin D3-1α-hydroxylase in pancreatic islets. J. Steroid Biochem. Mol. Biol. 2004, 121-125.
23. Maestro B., Davila N., Carranza M.C., Calle C. Identification of a Vitamin D response element in the human insulin receptor gene promoter. J. Steroid Biochem. Mol. Biol. 2003, 84:223-230.
24. Cade C., Norman A.W. Rapid normalization/stimulation by 1,25- dihydroxyvitamin D3 of insulin secretion and glucose tolerance in the Vitamin D-deficient rat. Eur. J. Endocrinol. 1987, 120:1490-1497.
25. Bottu G., Sisino G., Igoillo-Esteve M., Ortis F., Santin I., Colli M.L., Barthson J., Bouwens L., Hughes L., Gregory L., Lunter G., Marselli L., Marchetti P., McCarthy M.I., Cnop M. The human pancreatic islet transcriptome: expression of candidate genes for type 1 diabetes and the impact of pro-inflammatory cytokines. PLoS Genetics 2012, 8:e1002552.
26. Mathieu C., Gysemans C., Giulietti A., Bouillon R. Vitamin D and diabetes. Diabetologia 2005, 48:1247-1257.