Reliable and rapid characterization of functional FCN2 gene variants reveals diverse geographical patterns

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Ojurongbe, Olusola ^a,b   Ouf, Eman A ^a   Van Tong, Hoang ^a   Toan, Nguyen L ^c   Song, Le H ^d   Luz, Paola R ^e   Messias Reason, Iara J T ^e   Nurjadi, Dennis ^a   Zanger, Philipp ^a   Kun, Jürgen F J ^a   Kremsner, Peter G ^a   Velavan, Thirumalaisamy P ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b LADOKE AKINTOLA UNIVERSITY OF TECHNOLOGY   (Nigeria)

^c VIETNAM MILITARY MEDICAL UNIVERSITY   (Viet Nam)

^d Tran Hung Dao Hospital   (Viet Nam)

^e FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

Author keywords

Distribution; Ficolin 2; FRET; Genotypes; Haplotypes

Indexed keywords

FICOLIN; FICOLIN 2; UNCLASSIFIED DRUG;

ARTICLE; BRAZIL; CONTROLLED STUDY; ETHNICITY; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENOTYPING TECHNIQUE; GEOGRAPHY; GERMANY; HAPLOTYPE; HUMAN; NIGERIA; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; VIET NAM;

AFRICAN CONTINENTAL ANCESTRY GROUP; ASIAN CONTINENTAL ANCESTRY GROUP; EUROPEAN CONTINENTAL ANCESTRY GROUP; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENETIC VARIATION; HAPLOTYPES; HUMANS; LECTINS; POLYMORPHISM, SINGLE NUCLEOTIDE; REAL-TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 84861090658     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-37     Document Type: Article

References (19)

1. Medzhitov R. Recognition of microorganisms and activation of the immune response. Nature 2007, 449:819-826. 10.1038/nature06246, 17943118.
2. Runza VL, Schwaeble W, Mannel DN. Ficolins: novel pattern recognition molecules of the innate immune response. Immunobiology 2008, 213:297-306. 10.1016/j.imbio.2007.10.009, 18406375.
3. Endo Y, Matsushita M, Fujita T. The role of ficolins in the lectin pathway of innate immunity. Int J Biochem Cell Biol 2011, 43:705-712. 10.1016/j.biocel.2011.02.003, 21315829.
4. Garred P, Honore C, Ma YJ, Rorvig S, Cowland J, Borregaard N, et al. The genetics of ficolins. J Innate Immun 2009, 2:3-16.
5. Garlatti V, Belloy N, Martin L, Lacroix M, Matsushita M, Endo Y, et al. Structural insights into the innate immune recognition specificities of L- and H-ficolins. EMBO J 2007, 26:623-633. 10.1038/sj.emboj.7601500, 1783469, 17215869.
6. Ma YG, Cho MY, Zhao M, Park JW, Matsushita M, Fujita T, et al. Human mannose-binding lectin and L-ficolin function as specific pattern recognition proteins in the lectin activation pathway of complement. J Biol Chem 2004, 279:25307-25312. 10.1074/jbc.M400701200, 15078867.
7. Krarup A, Thiel S, Hansen A, Fujita T, Jensenius JC. L-ficolin is a pattern recognition molecule specific for acetyl groups. J Biol Chem 2004, 279:47513-47519. 10.1074/jbc.M407161200, 15331601.
8. Munthe-Fog L, Hummelshoj T, Hansen BE, Koch C, Madsen HO, Skjodt K, et al. The impact of FCN2 polymorphisms and haplotypes on the Ficolin-2 serum levels. Scand J Immunol 2007, 65:383-392. 10.1111/j.1365-3083.2007.01915.x, 17386030.
9. Hummelshoj T, Munthe-Fog L, Madsen HO, Fujita T, Matsushita M, Garred P. Polymorphisms in the FCN2 gene determine serum variation and function of Ficolin-2. Hum Mol Genet 2005, 14:1651-1658. 10.1093/hmg/ddi173, 15879437.
10. Hummelshoj T, Munthe-Fog L, Madsen HO, Garred P. Functional SNPs in the human ficolin (FCN) genes reveal distinct geographical patterns. Mol Immunol 2008, 45:2508-2520. 10.1016/j.molimm.2008.01.003, 18289682.
11. Chen X, Katoh Y, Nakamura K, Oyama N, Kaneko F, Endo Y, et al. Single nucleotide polymorphisms of Ficolin 2 gene in Behcet's disease. J Dermatol Sci 2006, 43:201-205. 10.1016/j.jdermsci.2006.05.010, 16839748.
12. de Messias-Reason I, Kremsner PG, Kun JF. Functional haplotypes that produce normal ficolin-2 levels protect against clinical leprosy. J Infect Dis 2009, 199:801-804. 10.1086/597070, 19434912.
13. Faik I, Oyedeji SI, Idris Z, de Messias-Reason IJ, Lell B, Kremsner PG, et al. Ficolin-2 levels and genetic polymorphisms of FCN2 in malaria. Hum Immunol 2011, 72:74-79. 10.1016/j.humimm.2010.10.003, 20937340.
14. Messias-Reason IJ, Schafranski MD, Kremsner PG, Kun JF. Ficolin 2 (FCN2) functional polymorphisms and the risk of rheumatic fever and rheumatic heart disease. Clin Exp Immunol 2009, 157:395-399. 10.1111/j.1365-2249.2009.03975.x, 2745034, 19664148.
15. Ruskamp JM, Hoekstra MO, Postma DS, Kerkhof M, Bottema RW, Koppelman GH, et al. Exploring the role of polymorphisms in ficolin genes in respiratory tract infections in children. Clin Exp Immunol 2009, 155:433-440. 10.1111/j.1365-2249.2008.03844.x, 2669519, 19220833.
16. Hoang TV, Toan NL, Song LH, Ouf EA, Bock CT, Kremsner PG, et al. Ficolin-2 levels and FCN2 haplotypes influence hepatitis B infection outcome in Vietnamese patients. PLoS One 2011, 6:e28113. 10.1371/journal.pone.0028113, 3222672, 22140517.
17. Assaf A, Hoang TV, Faik I, Aebischer T, Kremsner PG, Kun JF, et al. Genetic evidence of functional ficolin-2 haplotype as susceptibility factor in cutaneous leishmaniasis. PLoS One 2012, 7:e34113. 10.1371/journal.pone.0034113, 3311577, 22457818.
18. Kwok PY. Methods for genotyping single nucleotide polymorphisms. Annu Rev Genomics Hum Genet 2001, 2:235-258. 10.1146/annurev.genom.2.1.235, 11701650.
19. Tsuchihashi Z, Dracopoli NC. Progress in high throughput SNP genotyping methods. Pharmacogenomics J 2002, 2:103-110. 10.1038/sj.tpj.6500094, 12049172.