The genetic contribution to the pathogenesis of rheumatoid arthritis

Current Opinion in Rheumatology

Volumn 10, Issue 3, 1998, Pages 187-200

  Reveille, John D ^a  

^a UNIVERSITY OF TEXAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HLA DR ANTIGEN; HLA DR4 ANTIGEN;

ALLELE; DISEASE COURSE; GENE DOSAGE; GENETIC PREDISPOSITION; HLA SYSTEM; HUMAN; MAJOR HISTOCOMPATIBILITY COMPLEX; PRIORITY JOURNAL; REVIEW; RHEUMATOID ARTHRITIS;

ALLELES; AMINO ACID SEQUENCE; ARTHRITIS, RHEUMATOID; GENES, MHC CLASS II; GENOTYPE; HLA-DR ANTIGENS; HUMANS; MAJOR HISTOCOMPATIBILITY COMPLEX; MOLECULAR SEQUENCE DATA; PROGNOSIS;

EID: 0031832870     PISSN: 10408711     EISSN: None     Source Type: Journal    
DOI: 10.1097/00002281-199805000-00007     Document Type: Review

References (140)

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119. Udalova IA, Nedospasov SA, Webb GC, Chaplin DD, Turestskaya RL: Highly informative typing of the human TNF locus using six adjacent polymorphic markers. Genomics 1993, 16:180-186.
120. Wilson AG, de Vries N, Pociot F, di Giovine FS, van de Putte LBA, Duff GW: An allelic polymorphism within the human tumor necrosis factor alpha promoter region is strongly associated with the HLA A1, B8 and DR3 alleles. J Exp Med 1993, 177:577-560.
121. Messer G, Spengler U, Jung MC, Honold G, Blomer K, Pape GR, Riethmuller G, Weiss EH: Polymorphic structure of the tumor necrosis factor (TNF) locus: An Nco I polymorphism in the first intron of the human TNF-β gene correlates with a variant amino acid in position 26 and a reduced level of TNF-β production. J Exp Med 1991, 173:209-219.
122. Hajeer A, John S, Ollier WE, Silman AJ, Dawes P, Hassell A, Mattey D, Fryer A, Strange R, Worthington J: Tumor necrosis factor microsatellite haplotypes are different in male and female patients with RA. J Rheumatol 1997, 24:217-219. TNF microsatellites were examined in 181 British white RA patients and 251 controls, confirming previous observations by this group. Of note was the finding of different associations in men versus women with RA, as well as in those with young age at RA onset, however.
123. .0401 and other SE alleles observed in this population, suggesting an independent role for TNF alleles in predisposition to RA.
124. Brinkman BM, Huizinga TW, Kurban SS, van der Velde EA, Schreuder GM, Hazes JM, Breedveld FC, Verweij CL: Tumour necrosis factor alpha gene polymorphisms in rheumatoid arthritis: association with susceptibility to, or severity of, disease? Br J Rheumatol 1997, 36:516-521. As opposed to the study in ref. 123, this group studied dinucleotide polymorphisms in the TNF-α promoter region in 283 RA patients and 116 controls from the Netherlands. No disease association was seen, although the TNF-α-238 GA genotype was associated with less erosive disease.
125. Vinasco J, Beraun Y, Nieto A, Fraile A, Mataran L, Pareja E, Martin J: Polymorphism at the TNF loci in rheumatoid arthritis. Tissue Antigens 1997, 49:74-78. This study examined the two TNF-α promoter A/G polymorphisms (-238 and -308) and the TNF-β polymorphism associated with the Nco I restriction site in 60 Spanish systemic lupus erythematosus patients and 102 controls. Although no differences were found between patients and controls, associations were found with age at disease onset and with the presence of nodules, suggesting that TNF alleles may affect the clinical presentation of RA.
126. Brinkman BM, Huizinga TW, Breedveld FC, Verweij CL: Allele-specific quantification of TNFA transcripts in rheumatoid arthritis. Hum Genet 1996, 97:813-818. As an adjunct to their previous study, here levels of TNF mRNA were determined in peripheral blood mononuclear cells and in synovial biopsy material. No differences were sent in the amount of mRNA transcribed from different TNF-α promoter alleles, suggesting that, in RA, transcriptionally distinct TNF-α polymorphism is not a factor in disease susceptibility.
127. Shaw MA, Clayton O, Blackwell JM: Analysis of the candidate gene NRAMP1 in the first 61 ARC National Repository families for rheumatoid arthritis. J Rheumatol 1997, 24:212-214. This paper was presented as part of the symposium on the genetics of RA mentioned previously, essentially reiterating what was stated in the next paper.
128. Shaw MA, Claylon D, Atkinson SE, Williams H, Miller N, Sibthorpe D, Blackwell JM: Linkage of rheumatoid arthritis to the candidate gene NRAMP1 on 2q35. J Med Genet 1996, 33:672-677. Typing for dinucleotide repeats in the NRAMP1 promoter and four other nearby genes on chromosomes 2q34 and q35 in 61 nuclear multiplex RA families found linkage to the NRAMP1 promoter. The lod score (1.01) as yet is not as impressive as it should be to establish this gene as etiologic in RA, hence the authors deeming this "preliminary evidence." With more families being studied, it will be important to see if the linkage holds.
129. Cornelis F, Hardwick L, Flipo RM, Martinez M, Lasbleiz S, Prud'Homme JF,
130. Mu H, Charmley P, King MC, Criswell LA: Synergy between T cell receptor β gene polymorphism and HLA-DR4 in susceptibility to rheumatoid arthritis. Arthritis Rheum 1996, 39:931-937. Three linked TCR-β alleles, including one promoter variant, which span a 47 kb region of the TCR-β region, were found to be significantly increased in frequency in HLA-DR4-positive RA patients from North America, providing evidence that TCR-β genes, along with TCR-α, are involved in the predisposition to RA.
131. .01/01 genotype was significantly increased in frequency, suggesting a role for TCR-α alleles in predisposition to RA.
132. Zarnowski H, Mierau R, Werdier D, Antons M, Genth E, Hartl PW: Increased frequency of Gm(1,2;2,1) phenotype in HLA-DR4 positive seropositive rheumatoid arthritis. J Rheumatol 1986, 13:858-863.
133. Sanders PA, De Lange GG, Dyer PA, Grennan DM: Gm and Km allotypes in rheumatoid arthritis. Ann Rheum Dis 1985, 44:529-532.
134. M gene RFLP's in a cohort of Tunisian and European RA patients. Given the limitations of RFLP technology in studying genes that rearrange in vivo, the results are not surprising.
135. .0401-positive individuals, was found in 89 women with RA. Whether larger numbers will confirm these data remain to be seen.
136. Baerwald CG, Panayi GS, Lanchbury JS: Corticotropin releasing hormone promoter region polymorphisms in rheumatoid arthritis. J Rheumatol 1997, 24:215-216. Part of the symposium published in the Journal of Rheumatology, this is a study of only five RA patients and two controls, where fragments of the regulatory region of the corticotropin releasing hormone gene were amplified and sequenced. Three of the five RA patients and one of the two controls had polymorphisms associated with destruction of a consensus sequence for a specific transcription. Whether this is truly relevant to RA remains to be determined.
137. Fernandez-Vina M, Moraes JR, Moraes ME, Miller S, Stastny P: HLA class II haplotypes in Amerindians and in black North and South Americans. Tissue Antigens 1991, 38:235-237.
138. Hawkins BR: Analysis of gene and haplotype frequencies in Caucasians, Japanese and Chinese based on 2nd Asia-Oceania Histocompatibility Workshop data. Proceedings of the 2nd Asia and Oceania Histocompatibility Workshop Conference. Edited by Simons MJ, Tait BD. Victoria: Immunopublishing; 1983.
139. Hashimoto M, Kinoshita T, Yamasaki M, Tanaka H, Imanishi H, Ihara H, Ichikawa T, Fukunishi T: Gene frequencies and haplotypic associations within the HLA region in 916 unrelated Japanese individuals. Tissue Antigens 1994, 44:166-173.
140. Terasaki P, Geer L, Wang X, Gjertson D: Gene frequencies and maps of their distributions, HLA 1997. Edited by Terasaki PI, Gjertson DW. Los Angeles, UCLA Tissue Typing Laboratory, 1997, 427.