Immunoglobulin enhancer HS1,2 polymorphism: A new powerful anthropogenetic marker

Annals of Human Genetics

Volumn 70, Issue 6, 2006, Pages 946-950

  Giambra, V ^a   Martinez Labarga C ^a   Giufre, M ^b   Modiano, D ^c   Simpore, J ^d   Gisladottir, B K ^e   Francavilla, R ^c   Zhelezova, G ^f   Kilic, S S ^g   Crawford, M ^h   Biondi, G ⁱ   Rickards, O ^a   Frezza, D ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d Lab Biol Med S Camille O   (Burkina Faso)

^e UNIVERSITY OF ICELAND   (Iceland)

^f MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^g University School of Medicine   (Turkey)

^h UNIVERSITY OF KANSAS   (United States)

ⁱ UNIVERSITY OF L'AQUILA   (Italy)

Author keywords

Allelic frequencies; HS1,2 Ig enhancer; Human populations; Immune pathologies; Immunoglobulines; Regulatory region

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; IMMUNOGLOBULIN HEAVY CHAIN 3' ENHANCER COMPLEX 1; UNCLASSIFIED DRUG;

AFRICA; ALLELE; ARTICLE; ASIAN; CELIAC DISEASE; CONTROLLED STUDY; DERMATITIS HERPETIFORMIS; EUROPE; GENE FREQUENCY; GENETIC MARKER; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; IMMUNOGLOBULIN A NEPHROPATHY; IMMUNOGLOBULIN PRODUCTION; IMMUNOPATHOLOGY; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; RELIABILITY; TRANSCRIPTION REGULATION;

AFRICAN CONTINENTAL ANCESTRY GROUP; ASIAN CONTINENTAL ANCESTRY GROUP; ENHANCER ELEMENTS (GENETICS); ENHANCER ELEMENTS, GENETIC; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENES, IMMUNOGLOBULIN HEAVY CHAIN; GENETIC MARKERS; GENETICS, POPULATION; HUMANS; MODELS, GENETIC; POLYMORPHISM, GENETIC;

EID: 33749556410     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2006.00273.x     Document Type: Article

References (18)

1. Aupetit, C., Drouet, M., Pinaud, E., Denizot, Y., Aldigier, J. C., Bridoux, F. & Cogne, M. (2000) Alleles of the alpha1 immunoglobulin gene 3′ enhancer control evolution of IgA nephropathy toward renal failure. Kidney Int 58, 966-971.
2. Budowle, B., Smith, J., Moretti, T. & Di Zinno, J. (2000) DNA Typing Protocols: Molecular Biology and Forensic Analysis. Eaton Publishing, USA.
3. Cavalli-Sforza, L. L., Menozzi, P. & Piazza, A., (1994) The History and Geography of Human Gene. Princeton University Press, Princeton, NJ.
4. Denizot, Y., Pinaud, E., Aupetit, C., Le Morvan, C., Magnoux, E., Aldigier, J. C. & Cogne, M. (2001) Polymorphism of the human alpha1 immunoglobulin gene 3′ enhancer hs1,2 and its relation to gene expression. Immunology 103, 35-40.
5. Excoffier, L., Smouse, P. & Quattro, J. (1992) Analysis of molecular variance inferred from metric distances among DNA haplotyples: application to human mitochondrial DNA restriction data. Genetics 131, 479-491.
6. Frezza, D., Giambra, V., Cianci, R., Fruscalzo, A., Giufre, M., Cammarota, G., Martinez-Labarga, C., Rickards, O., Scibilia, G., Sferlazzas, C., Bartolozzi, F., Starnino, S., Magazzu, G., Gasbarrini, G. B. & Pandolfi, F. (2004) Increased frequency of the immunoglobulin enhancer HS1,2 allele 2 in coeliac disease. Scand J Gastroenterol 39, 1083-1087.
7. Giambra, V., Fruscalzo, A., Giufre' M, Martinez-Labarga, C., Favaro, M., Rocchi, M. & Frezza, D. (2005) Evolution of human IgH3′EC duplicated structures: Both enhancers HS1,2 are polymorphic with variation of transcription factor's consensus sites. Gene 346, 105-114.
8. Guglielmi, L., Truffinet, V., Magnoux, E., Cogne, M. & Denizot, Y. (2004) The polymorphism of the locus control region lying downstream the human IgH locus is restricted to hs1,2 but not to hs3 and hs4 enhancers. Immunol Lett 94, 77-81.
9. Hall, Y. H., Fuentes, E. F., Chertow, G. M. & Olson, J. L. (2004) Race/ethnicity and disease severitàin IgA nephropathy. BCM Nephrology 5, 10.
10. Korbet, S. M., Genchi, R. M., Borok, R. Z. & Schwartz, M. M. (1996) The racial prevalence of glomerular lesions in nephrotic adults. Am J Kidney Dis 27, 647-651.
11. Hu, Y., Pan, Q., Pardali, E., Mills, F. C., Bernstein, R. M., Max, E. E., Sideras, P. & Hammarstrom, L. (2000) Regulation of germline promoters by the two human Ig heavy chain 3′ alpha enhancers. J Immunol 164, 6380-6386.
12. Laurencikiene, J., Deveikaite, V. & Severinson, E. (2001) HS1,2 enhancer regulation of germline epsilon and gamma2b promoters in murine B lymphocytes: Evidence for specific promoter-enhancer interactions. J Immunol 167, 3257-3265.
13. Levy, M. & Berger, J. (1988) Worldwide perspective of IgA nephropathy. Am J Kidney Dis 12, 340-347.
14. Morpurgo, G., Modiano, G., Arese, P., Ranzani, G. N., Felicetti, L., Tozzi, F., Mura, G. & Santachiara-Benerecetti, A. S. (1983) Population genetic studies in Sikkim. J Hum Evol 12, 425-437.
15. Nagel, R. L. (2005) Epistasis and the genetics of human diseases. C R Biol 328, 606-615. Review.
16. Schneider, S., Roessli, D. & Excoffier, L. (2000) Arlequin ver 2.000: A software for population genetic data analysis. Genetics and Biometry Laboratory, University of Geneva, Italy, Switzerland.
17. Sepulveda, M. A., Garrett, F. E., Price-Whelan, A. & Birshtein, B. K. (2005) Comparative analysis of human and mouse 3′ Igh regulatory regions identifies distinctive structural features. Mol Immunol 42, 605-615.
18. Yang, Q., Khoury, M. J., Friedman, J. M., Little, J. & Dana Flanders, W. (2005) How many genes underlie the occurrence of common complex diseases in the population?Int J Epidemiol 34, 1129-1137.