Genetic analysis of multiplex rheumatoid arthritis families

Bali, Deeksha; Gourley, S.J.; Kostyu, Donna D.; Goel, Niti; Bruce, Ian N; Bell, A. L.; Walker, David; Tran, Kelly; Zhu, Dakai; Costello, Tracy J.; Amos, Christopher I.; Seldin, Michael F.

doi:10.1038/sj.gene.6363635

Cited by 53 publications

(32 citation statements)

References 36 publications

(38 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…50 The Atg M235T polymorphism, which corresponds to the T704C single-nucleotide polymorphism (SNP), was assayed by a primer extension method using the ABI Prism SNaPshot Multiplex System kit (PE Applied Biosystems) and the ABI 3700 DNA Analyzer. The PCR primers were: forward, 5 0 -ATCTCAGCTACACATTGGA TACTAAGTCC-3 0 , and reverse, 5 0 -CAC GCT CTC TGG ACT TCA CAG A-3 0 , and the primer used for the extension reaction was GAA GAC TGG CTG CTC CCT GA. Alleles were determined using the GeneScan v3.5 and Genotyper v3.6 software packages.…”

Section: Ln Classificationmentioning

confidence: 99%

Renin–angiotensin system gene polymorphisms predict the progression to renal insufficiency among Asians with lupus nephritis

et al. 2005

View full text Add to dashboard Cite

The renin-angiotensin system (RAS) is a strong candidate as a mediator for the development and progression of lupus nephritis (LN). We performed an ethnically stratified analysis of 642 systemic lupus erythematosus (SLE) patients to determine whether various functional RAS gene polymorphisms are associated with SLE renal outcomes. Patients were genotyped for two angiotensin-converting enzyme (ACE) gene polymorphisms: Alu insertion/deletion (I/D) and 23 949 (CT) 2/3 , and for two angiotensinogen (Atg) gene polymorphisms: M235T and C-532T. Multivariate analyses demonstrated associations between the ACE I/D, ACE (CT) 2/3 and Atg C-532T functional polymorphisms and LN among Asians. In stratified analyses among LN cases according to high vs low glomerular filtration rate (GFR), associations remained significant for the ACE D (odds ratio (OR) 5.9, P ¼ 0.001) and (CT) 2 (OR 6.2, P ¼ 0.001) alleles among Asian subjects with low GFR. Lastly, we found allelic dosedependent associations between the ACE I/D (P ¼ 0.003), ACE (CT) 2/3 (P ¼ 0.005) and Atg M235T (P ¼ 0.04) polymorphisms, and GFR analyzed as a continuous variable among Asians. These findings suggest a significant role for ACE and Atg gene sequence variation and severity of LN among Asians with SLE.

show abstract

Section: Ln Classificationmentioning

confidence: 99%

Renin–angiotensin system gene polymorphisms predict the progression to renal insufficiency among Asians with lupus nephritis

et al. 2005

View full text Add to dashboard Cite

show abstract

“…Some other studies also support the existence of an independent RA susceptibility locus in the MHC class III region. 33,34 The gene/s involved must lie on different haplotypes in the southern German and English populations. In a southern German population the allele would most likely lie on a TNF −308.1 bearing haplotype, whereas in the English population it would lie on a DR1 haplotype, with linkage disequilibrium breaking down around TNF.…”

Section: Discussionmentioning

confidence: 99%

Interethnic studies of TNF polymorphisms confirm the likely presence of a second MHC susceptibility locus in ankylosing spondylitis

et al. 2000

View full text Add to dashboard Cite

The objective of this study was to investigate TNF promoter region polymorphisms for association with susceptibility to ankylosing spondylitis (AS). The TNF −238 and −308 polymorphisms were genotyped in 306 English AS cases and 204 ethnically matched healthy B27-positive controls, and 96 southern German AS cases, 58 B27-positive and 251 B27-negative ethnically matched controls. Additionally, the TNF −376 polymorphism was genotyped in the southern German cases and controls. In the southern German AS patients a significant reduction in TNF −308.2 alleles was seen, compared with B27 positive controls (odds ratio 0.4, P = 0.03, 95% confidence interval 0.2-0.9), but no difference in allele frequencies was observed at TNF −238. Significant association between AS and both TNF −238 and TNF −308 was excluded in the English cases. These results confirm previous observations in the southern German population of association between TNF promoter region polymorphisms and AS, but the lack of association in the English population suggests that these polymorphisms themselves are unlikely to be directly involved. More likely, a second, non-HLA-B, MHC locus is involved in susceptibility to AS in these two populations. Genes and Immunity (2000) 1, 418-422.

show abstract

“…DNA samples from Finnish proband family trios and from controls were prepared from buccal cell swabs or extracted from peripheral blood as previously described. 34 Sample DNA concentrations were determined using a PicoGreen fluorescence assay (Molecular Probes). The Rheumatism Foundation Hospital receives patients from all the five university hospitals in Finland and from the remaining 16 central hospital districts, but particularly in the middle-eastern region where the Rheumatism Foundation Hospital is located.…”

Section: Patient and Control Samplesmentioning

confidence: 99%

HLA-DRB1, TAP2/TAP1, and HLA-DPB1 haplotypes in Finnish juvenile idiopathic arthritis: more complexity within the MHC

Runstadler

Säilä²,

Savolainen³

et al. 2004

Genes Immun

View full text Add to dashboard Cite

This study further defines genetic susceptibility to JIA in the region centromeric to HLA-DRB1. DNA from 234 Finnish JIA nuclear families and 639 elderly Finnish control individuals was genotyped for five functional SNPs within the TAP2 and TAP1 loci (B200 kb centromeric of HLA-DRB1). Subsets of the controls (186) and patients (145) that had been previously typed for HLA-DRB1 were also genotyped by sequence for the HLA-DPB1 locus. Case/control and transmission disequilibrium test (TDT) methods revealed an association with the DPB1*030101 allele for JIA (OR 2.3, 95% CI 1.5-3.5). Notably, a detailed haplotypic analysis of the TAP2/TAP1 loci and their interaction with the HLA-DPB1*030101 and DRB1*08 and *11 alleles showed a variety of over-represented and under-represented TAP2/TAP1 haplotypes not evident in the single marker analysis. The strongest effect was observed in the polyarticular RF negative JIA subgroup for the 2-2-1-2-1 TAP2/TAP1 haplotype (TAP2B and TAP1A alleles) which showed an independent effect from both DRB1*08 and *11 (Po0.000003) and DPB1*030101 (P ¼ 0.02). We have provided evidence that the extended haplotypes (including HLA-DRB1, TAP2/TAP1, and HLA-DPB1) of pauciarticular and polyarticular RF negative disease are distinct. This observation may have implications for functional etiological differences between the pauciarticular and polyarticular JIA patients.

show abstract

Genetic analysis of multiplex rheumatoid arthritis families

Cited by 53 publications

References 36 publications

Renin–angiotensin system gene polymorphisms predict the progression to renal insufficiency among Asians with lupus nephritis

Renin–angiotensin system gene polymorphisms predict the progression to renal insufficiency among Asians with lupus nephritis

Interethnic studies of TNF polymorphisms confirm the likely presence of a second MHC susceptibility locus in ankylosing spondylitis

HLA-DRB1, TAP2/TAP1, and HLA-DPB1 haplotypes in Finnish juvenile idiopathic arthritis: more complexity within the MHC

Contact Info

Product

Resources

About