Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population

Molecular Immunology

Volumn 46, Issue 13, 2009, Pages 2623-2629

  Blaskó, Bernadett ^a   Bánlaki, Zsófia ^b   Gyapay, Gabor ^c   Pozsonyi, Éva ^d   Sasvári Székely, Mária ^e   Rajczy, Katalin ^d   Füst, George ^b   Szilágyi, Ágnes ^b  

^a INSTITUTE OF EXPERIMENTAL MEDICINE   (Hungary)

^b SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

^c CENTRE NATIONAL DE SÉQUENÇAGE   (France)

^d NATIONAL MEDICAL CENTER   (Hungary)

^e SEMMELWEIS UNIVERSITY   (Hungary)

Author keywords

21 Hydroxylase; C4B*Q0; Copy number variation; CYP21A2; Polymorphisms

Indexed keywords

COMPLEMENT COMPONENT C4A; COMPLEMENT COMPONENT C4B; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 3; STEROID 21 MONOOXYGENASE; TATA BINDING PROTEIN;

ADULT; ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; HUNGARY; LINKAGE ANALYSIS; MALE; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; COMPLEMENT C4A; COMPLEMENT C4B; FAMILY HEALTH; FEMALE; GENE DOSAGE; GENE FREQUENCY; GENETIC VARIATION; GENOTYPE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); LINKAGE DISEQUILIBRIUM; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; STEROID 21-HYDROXYLASE;

EID: 67650438900     PISSN: 01615890     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molimm.2009.04.033     Document Type: Article

References (46)

1. Admoni O., Israel S., Lavi I., Gur M., and Tenenbaum-Rakover Y. Hyperandrogenism in carriers of CYP21 mutations: the role of genotype. Clin. Endocrinol. (Oxf.) 64 (2006) 645-651
2. Aly T.A., Ide A., Jahromi M.M., Barker J.M., Fernando M.S., Babu S.R., Yu L., Miao D., Erlich H.A., Fain P.R., Barriga K.J., Norris J.M., Rewers M.J., and Eisenbarth G.S. Extreme genetic risk for type 1A diabetes. Proc. Natl. Acad. Sci. U.S.A. 103 (2006) 14074-14079
3. Arason G.J., Bodvarsson S., Sigurdarson S.T., Sigurdsson G., Thorgeirsson G., Gudmundsson S., Kramer J., and Fust G. An age-associated decrease in the frequency of C4B*Q0 indicates that null alleles of complement may affect health or survival. Ann. NY Acad. Sci. 1010 (2003) 496-499
4. Arason G.J., Kramer J., Blasko B., Kolka R., Thorbjornsdottir P., Einarsdottir K., Sigfusdottir A., Sigurdarson S.T., Sigurdsson G., Ronai Z., Prohaszka Z., Sasvari-Szekely M., Bodvarsson S., Thorgeirsson G., and Fust G. Smoking and a complement gene polymorphism interact in promoting cardiovascular disease morbidity and mortality. Clin. Exp. Immunol. 149 (2007) 132-138
5. Barrett J.C., Fry B., Maller J., and Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21 (2005) 263-265
6. Blasko B., Kolka R., Thorbjornsdottir P., Sigurdarson S.T., Sigurdsson G., Ronai Z., Sasvari-Szekely M., Bodvarsson S., Thorgeirsson G., Prohaszka Z., Kovacs M., Fust G., and Arason G.J. Low complement C4B gene copy number predicts short-term mortality after acute myocardial infarction. Int. Immunol. 20 (2008) 31-37
7. Candore G., Lio D., Colonna Romano G., and Caruso C. Pathogenesis of autoimmune diseases associated with 8.1 ancestral haplotype: effect of multiple gene interactions. Autoimmun. Rev. 1 (2002) 29-35
8. Candore G., Modica M.A., Lio D., Colonna-Romano G., Listi F., Grimaldi M.P., Russo M., Triolo G., Accardo-Palumbo A., Cuccia M.C., and Caruso C. Pathogenesis of autoimmune diseases associated with 8.1 ancestral haplotype: a genetically determined defect of C4 influences immunological parameters of healthy carriers of the haplotype. Biomed. Pharmacother. 57 (2003) 274-277
9. Chan R.K., Ibrahim S.I., Verna N., Carroll M., Moore Jr. F.D., and Hechtman H.B. Ischaemia-reperfusion is an event triggered by immune complexes and complement. Br. J. Surg. 90 (2003) 1470-1478
10. Chao W., Huynh K.D., Spencer R.J., Davidow L.S., and Lee J.T. CTCF, a candidate trans-acting factor for X-inactivation choice. Science 295 (2002) 345-347
11. Chenna R., Sugawara H., Koike T., Lopez R., Gibson T.J., Higgins D.G., and Thompson J.D. Multiple sequence alignment with the Clustal series of programs. Nucleic Acids Res. 31 (2003) 3497-3500
12. Crowe M.L. SeqDoC: rapid SNP and mutation detection by direct comparison of DNA sequence chromatograms. BMC Bioinformatics 6 (2005) 133
13. Dawkins R.L., Christiansen F.T., Kay P.H., Garlepp M., McCluskey J., Hollingsworth P.N., and Zilko P.J. Disease associations with complotypes, supratypes and haplotypes. Immunol. Rev. 70 (1983) 1-22
14. Dupont B., Oberfield S.E., Smithwick E.M., Lee T.D., and Levine L.S. Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency). Lancet 2 (1977) 1309-1312
15. Fantidis P., Perez D.P., Fernandez-Ortiz A., Carcia-Touchard A., Alfonso F., Sabate M., Hernandez R., Escaned J., Bauelos C., and Macaya C. Morning cortisol production in coronary heart disease patients. Eur. J. Clin. Invest. 32 (2002) 304-308
16. Forest M.G. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum. Reprod. Update 10 (2004) 469-485
17. Higashi Y., Yoshioka H., Yamane M., Gotoh O., and Fujii-Kuriyama Y. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc. Natl. Acad. Sci. U.S.A. 83 (1986) 2841-2845
18. Hudson B.I., Stickland M.H., Futers T.S., and Grant P.J. Effects of novel polymorphisms in the RAGE gene on transcriptional regulation and their association with diabetic retinopathy. Diabetes 50 (2001) 1505-1511
19. Klenova E.M., Morse III H.C., Ohlsson R., and Lobanenkov V.V. The novel BORIS + CTCF gene family is uniquely involved in the epigenetics of normal biology and cancer. Semin. Cancer Biol. 12 (2002) 399-414
20. Kramer J., Fulop T., Rajczy K., Nguyen A.T., and Fust G. A marked drop in the incidence of the null allele of the B gene of the fourth component of complement (C4B*Q0) in elderly subjects: C4B*Q0 as a probable negative selection factor for survival. Hum. Genet. 86 (1991) 595-598
21. Kramer J., Harcos P., Prohaszka Z., Horvath L., Karadi I., Singh M., Csaszar A., Romics L., and Fust G. Frequencies of certain complement protein alleles and serum levels of anti-heat-shock protein antibodies in cerebrovascular diseases. Stroke 31 (2000) 2648-2652
22. Kramer J., Rajczy K., Hegyi L., Fulop T., Mohacsi A., Mezei Z., Keltai M., Blasko G., Ferenczy E., Anh-Tuan N., et al. C4B*Q0 allotype as risk factor for myocardial infarction. BMJ 309 (1994) 313-314
23. Laki J., Kiszel P., Vatay A., Blasko B., Kovacs M., Korner A., Madacsy L., Blatniczky L., Almassy Z., Szalai C., Rajczy K., Pozsonyi E., Karadi I., Fazakas A., Hosszufalusi N., Panczel P., Arason G.J., Wu Y.L., Zhou B., Yang Y., Yu C.Y., and Fust G. The HLA 8.1 ancestral haplotype is strongly linked to the C allele of -429T > C promoter polymorphism of receptor of the advanced glycation endproduct (RAGE) gene. Haplotype-independent association of the -429C allele with high hemoglobinA1C levels in diabetic patients. Mol. Immunol. 44 (2007) 648-655
24. Laki J., Laki I., Nemeth K., Ujhelyi R., Bede O., Endreffy E., Bolbas K., Gyurkovits K., Csiszer E., Solyom E., Dobra G., Halasz A., Pozsonyi E., Rajczy K., Prohaszka Z., Fekete G., and Fust G. The 8.1 ancestral MHC haplotype is associated with delayed onset of colonization in cystic fibrosis. Int. Immunol. 18 (2006) 1585-1590
25. Lee H. CYP21 mutations and congenital adrenal hyperplasia. Clin. Genet. 59 (2001) 293-301
26. Ligtenberg J.J., and Zijlstra J.G. The relative adrenal insufficiency syndrome revisited: which patients will benefit from low-dose steroids?. Curr. Opin. Crit. Care 10 (2004) 456-460
27. Lowe G.D., Rumley A., McMahon A.D., Ford I., O'Reilly D.S., and Packard C.J. Interleukin-6, fibrin D-dimer, and coagulation factors VII and XIIa in prediction of coronary heart disease. Arterioscler. Thromb. Vasc. Biol. 24 (2004) 1529-1534
28. McHugh N.J., Owen P., Cox B., Dunphy J., and Welsh K. MHC class II, tumour necrosis factor alpha, and lymphotoxin alpha gene haplotype associations with serological subsets of systemic lupus erythematosus. Ann. Rheum. Dis. 65 (2006) 488-494
29. Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16 (1988) 1215
30. Miller W.L., and Morel Y. The molecular genetics of 21-hydroxylase deficiency. Annu. Rev. Genet. 23 (1989) 371-393
31. Mustafa A., Nityanand S., Berglund L., Lithell H., and Lefvert A.K. Circulating immune complexes in 50-year-old men as a strong and independent risk factor for myocardial infarction. Circulation 102 (2000) 2576-2581
32. Ohlsson R., Renkawitz R., and Lobanenkov V. CTCF is a uniquely versatile transcription regulator linked to epigenetics and disease. Trends Genet. 17 (2001) 520-527
33. Parajes S., Quinteiro C., Dominguez F., and Loidi L. High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency. PLoS ONE 3 (2008) e2138
34. Rodrigues N.R., Dunham I., Yu C.Y., Carroll M.C., Porter R.R., and Campbell R.D. Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia. EMBO J. 6 (1987) 1653-1661
35. Seidemann K., Zimmermann M., Book M., Meyer U., Burkhardt B., Welte K., Reiter A., and Stanulla M. Tumor necrosis factor and lymphotoxin alfa genetic polymorphisms and outcome in pediatric patients with non-Hodgkin's lymphoma: results from Berlin-Frankfurt-Munster Trial NHL-BFM 95. J. Clin. Oncol. 23 (2005) 8414-8421
36. Smerdel-Ramoya A., Finholt C., Lilleby V., Gilboe I.M., Harbo H.F., Maslinski S., Forre O., Thorsby E., and Lie B.A. Systemic lupus erythematosus and the extended major histocompatibility complex-evidence for several predisposing loci. Rheumatology (Oxford) 44 (2005) 1368-1373
37. Sweeten T.L., Odell D.W., Odell J.D., and Torres A.R. C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autism. BMC Med. Genet. 9 (2008) 1
38. Szilagyi A., Blasko B., Szilassy D., Fust G., Sasvari-Szekely M., and Ronai Z. Real-time PCR quantification of human complement C4A and C4B genes. BMC Genet. 7 (2006) 1
39. Thorbjornsdottir P., Kolka R., Gunnarsson E., Bambir S.H., Thorgeirsson G., Kotwal G.J., and Arason G.J. Vaccinia virus complement control protein diminishes formation of atherosclerotic lesions: complement is centrally involved in atherosclerotic disease. Ann. NY Acad. Sci. 1056 (2005) 1-15
40. Toth E.K., Kocsis J., Madaras B., Biro A., Pocsai Z., Fust G., Blasko B., Karadi I., Adany R., and Laki J. The 8.1 ancestral MHC haplotype is strongly associated with colorectal cancer risk. Int. J. Cancer 26 (2007) 26
41. Vargas-Alarcon G., Londono J.D., Hernandez-Pacheco G., Gamboa R., Castillo E., Pacheco-Tena C., Cardiel M.H., Granados J., and Burgos-Vargas R. Heat shock protein 70 gene polymorphisms in Mexican patients with spondyloarthropathies. Ann. Rheum. Dis. 61 (2002) 48-51
42. White P.C., New M.I., and Dupont B. Structure of human steroid 21-hydroxylase genes. Proc. Natl. Acad. Sci. U.S.A. 83 (1986) 5111-5115
43. White P.C., and Speiser P.W. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr. Rev. 21 (2000) 245-291
44. Yang Z., Mendoza A.R., Welch T.R., Zipf W.B., and Yu C.Y. Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease associations. J. Biol. Chem. 274 (1999) 12147-12156
45. Yokoyama Y., Teraoka M., Tsuji K., Ninomiya S., Inoue C., Yamashita S., Narahara K., and Seino Y. Rapid screening method to detect mutations in CYP21, the gene for 21-hydroxylase. Am. J. Med. Genet. 94 (2000) 28-31
46. Yu C.Y., Chung E.K., Yang Y., Blanchong C.A., Jacobsen N., Saxena K., Yang Z., Miller W., Varga L., and Fust G. Dancing with complement C4 and the RP-C4-CYP21-TNX (RCCX) modules of the major histocompatibility complex. Prog. Nucleic Acid Res. Mol. Biol. 75 (2003) 217-292