Association of mannose-binding lectin gene (MBL2) polymorphisms with rheumatoid arthritis in an Indian cohort of case-control samples

Journal of Human Genetics

Volumn 50, Issue 11, 2005, Pages 583-591

  Gupta, Bhawna ^a   Agrawal, Charu ^a   Raghav, Sunil K ^a   Das, Swapan K ^a   Das, Rakha H ^a   Chaturvedi, Ved P ^b   Das, Hasi R ^a  

^a CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

^b ARMY HOSPITAL   (India)

Author keywords

Complement; Gene polymorphisms; Indian population; Mannose binding lectin; Rheumatoid arthritis

Indexed keywords

MANNOSE BINDING LECTIN; MANNOSE BINDING LECTIN 2; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; AUTOIMMUNE DISEASE; CASE CONTROL STUDY; CODON; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; GENE FREQUENCY; GENETIC VARIABILITY; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INDIAN; PROMOTER REGION; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE;

ARTHRITIS, RHEUMATOID; CLUSTER ANALYSIS; DNA PRIMERS; GENE COMPONENTS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INDIA; LINKAGE DISEQUILIBRIUM; MANNOSE-BINDING LECTIN; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA;

EID: 27944480813     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0299-8     Document Type: Article

References (38)

1. Agrawal C, Raghav SK, Gupta B, Das RH, Chaturvedi VP, Goswami K, Das HR (2005) Tumour necrosis factor-α microsatellite polymorphism association with rheumatoid arthritis in Indian patients. Arch Med Res 36:555-559
2. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265
3. Bernig T, Taylor JG, Foster CB, Staats B, Yeager M, Chanock SJ (2004) Sequence analysis of the mannose-binding lectin (MBL2) gene reveals a high degree of heterozygosity with evidence of selection. Genes Immun 5:461-476
4. Bond A, Alavi A, Axford JS, Youinou P, Hay FC (1996) The relationship between exposed galactose and N-acetylglucosamine residues on IgG in rheumatoid arthritis (RA), juvenile chronic arthritis (JCA) and Sjogren's syndrome (SS). Clin Exp Immunol 105:99-103
5. Carson DA, Chen PP, Fox RI, Kipps TJ, Jirik F, Goldfien RD, Silverman G, Radoux V, Fong S (1987) Rheumatoid factor and immune networks. Annu Rev Immunol 5:109-126
6. Corper AL, Sohi MK, Bonagura VR, Steinitz M, Jefferis R, Feinstein A, Beale D, Taussig MJ, Sutton BJ (1997) Structure of human IgM rheumatoid factor Fab bound to its autoantigen IgG Fc reveals a novel topology of antibody-antigen interaction. Nat Struct Biol 5:374-381
7. Eisen DP, Minchinton RM (2003) Impact of mannose-binding lectin on susceptibility to infectious diseases. Clin Infect Dis 37:1496-1505
8. Field M, Gallagher G, Eskdale J, McGarry F, Richards SD, Munro R, Oh HH, Campbell C (1997) Tumour necrosis factor polymorphisms in rheumatoid arthritis. Tissue Antigens 50:303-307
9. Garred P, Thiel S, Madsen HO, Ryder LP, Jensenius JC, Svjgarad A (1992) Gene frequency and partial protein characterization of an allelic variant of mannan-binding protein associated with low serum concentration. Clin Exp Immunol 9:517-521
10. Goldbach-Mansky R, Lee J, McCoy A, Hoxworth J, Yarboro C, Smolen JS, Steiner G, Rosen A, Zhang C, Menard HA, Zhou ZJ, Palosuo T, Van Venrooij WJ, Wilder RL, Klippel JH, Schumacher HR Jr, El-Gabalawy HS (2000) Rheumatoid arthritis associated autoantibodies in patients with synovitis of recent onset. Arthritis Res 2:236-243
11. Gradual NA, Homann C, Madsen HO, Svejgaard A, Jurik AG, Graudal HK, Garred P (1998) Mannan binding lectin rheumatoid arthritis. A longitudinal study. J Rheumatol 25:629-635
12. Guo SW, Thompson EA (1992) Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 48:361-372
13. Heinemeyer T, Wingender E, Reuter I, Hermjakob H, Kel AE, Kel OV, Ignatieva EV, Ananko EA, Podkolodnaya OA, Kolpakov FA, Podkolodny NL, Kolchanov NA (1998) Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL. Nucleic Acid Res 26:362-367
14. Horiuchi T, Tsukamoto H, Morita C, Sawabe T, Harashima S, Nakashima H, Miyahara H, Hashimura C, Kondo M (2000) Mannose binding lectin (MBL) gene mutation is not a risk factor for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Japanese. Genes Immun 1:464-466
15. Jensen PH, Weilguny D, Matthiesen F, McGuire KA, Shi L, Hojrup P (2005) Characterization of the oligomer structure of recombinant human mannan-binding lectin. J Biol Chem 280:11043-11051
16. Kilpatrick DC (2002) Mannan-binding lectin: clinical significance and applications. Biochim Biophys Acta 1572:401-413
17. Kim-Howard XR, Staudt L, James JA (2005) Update in rheumatoid arthritis therapy. J Okla State Med Assoc 98:53-62
18. Kumar S, Tamura K, Jakobsen IB, Nei M (2001) MEGA2: molecular evolutionary genetics analysis software. Bioinformatics 17:1244-1245
19. Lange K, Cantor R, Horvath S (2001) MENDEL Version 4.0:a complete package for the exact genetic analysis of discrete traits in pedigree and population data sets. Am J Hum Genet 69(Suppl):A1886
20. Larsen F, Madsen HO, Sim RB, Koch C, Garred P (2004) Disease-associated mutations in human mannose-binding lectin compromise oligomerization and activity of the final protein. J Biol Chem 279:21302-21311
21. Lipscombe RJ, Sumiya M, Hill AV, Lau YL, Levinsky RJ, Summerfield JA, Turner MW (1992) High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene. Hum Mol Genet 1:709-715
22. Madsen HO, Garred P, Thiel S, Kurtzhals JA, Lamm LU, Ryder LP, Svejgaard A (1995) Interplay between promoter and structural gene variants control basal serum level of mannan-binding protein. J Immunol 155:3013-3020
23. Madsen HO, Satz ML, Hogh B, Svejgaard A, Garred P (1998) Different molecular events result in low protein levels of mannan-binding lectin in populations from Southeast Africa and South America. J Immunol 161:3169-3175
24. Malhotra R, Wormald MR, Rudd PM, Fischer PB, Dwek RA, Sim RB (1995) Glycosylation changes of IgG associated with rheumatoid arthritis can activate complement via the mannose-binding protein. Nat Med 1:237-243
25. Miller SA, Dykes DD, Polesky HF (1988) A simple salting-out procedure for extracting DNA from human nucleated cells. Nucl Acid Res 16:1215
26. Ohta M, Okada M, Yamashina I, Kawasaki T (1990) The mechanism of carbohydrate-mediated complement activation by the serum mannan-binding protein. J Biol Chem 265:1980-1984
27. Presanis JS, Kojima M, Sim RB (2003) Biochemistry and genetics of mannan-binding lectin (MBL2). Biochem Soci Trans 31:748-752
28. Prevoo ML, van't Hof MA, Kuper HH, van Leeuwen MA, van de Putte LB, van Riel PL (1995) Modified disease activity scores that include twenty-eight-joint counts. Development and validation in a prospective longitudinal study of patients with rheumatoid arthritis. Arthritis Rheum 38:44-48
29. Sastry K, Herman GA, Day L Deignan E, Bruns G, Morton CC, Ezekowitz RA (1989) The human mannose-binding protein gene. Exon structure reveals its evolutionary relationship to a human pulmonary surfactant gene and localization to chromosome 10. J Exp Med 170:1175-1189
30. Soborg C, Madsen HO, Andersen AB, Lillibaek T, Kok-jensen A, Garred P (2003) Mannose-binding lectin polymorphisms in clinical tuberculosis. J Infect Dis 188:777-782
31. Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989
32. Suzuki A, Yamada R, Chang X, Tokuhiro S, Sawada T, Suzuki M, Nagasaki M, Nakayama-Hamada M, Kawaida R, Ono M, Ohtsuki M, Furukawa H, Yoshino S, Yukioka M, Tohma S, Matsubara T, Wakitani S, Teshima R, Nishioka Y, Sekine A, Iida A, Takahashi A, Tsunoda T, Nakamura Y, Yamamoto K (2003) Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat Genet 34:395-402
33. Takahashi K, Gordon J, Liu H, Sastry KN, Epstein JE, Motwani M, Laursen I, Thiel S, Jensenius JC, Carroll M, Ezekowitz RA (2002) Lack of mannose-binding lectin-A enhances survival in a mouse model of acute septic peritonitis. Microbes Infect 4:773-784
34. Takahashi R, Tsutsumi A, Ohtani K, Muraki Y, Goto D, Matsumoto I, Wakamiya N, Sumida T (2005) Association of mannose binding lectin (MBL) gene polymorphism and serum MBL concentration with characteristics and progression of systemic lupus erythematosus. Ann Rheum Dis 64:311-314
35. Tsutsumi A, Sasaki K, Wakamiya N Ichikawa K, Atsumi T, Ohtani K, Suzuki Y, Koike T, Sumida T (2001) Mannose-binding lectin gene: polymorphisms in Japanese patients with systemic lupus erythematosus, rheumatoid arthritis and Sjogren's syndrome. Genes Immun 2:99-104
36. Turner MW, Hamvas RM (2000) Mannose-binding lectin: structure, function, genetics and disease association. Rev Immunugenet 2:305-322
37. Wang ZY, Morinobu A, Kanagawa S, Kumagai S (2001) Polymorphisms of the mannose binding lectin gene in patients with Sjogren's syndrome. Ann Rheum Dis 60:483-486
38. Weyand CM, Goronzy JJ (2000) Association of MHC and rheumatoid arthritis. HLA polymorphisms in phenotypic variants of rheumatoid arthritis. Arthritis Res 2:212-216