类风湿关节炎与胰岛素依赖型糖尿病位点的连锁：支持存在共同自身免疫易感性位点假说的证据。
Linkage of rheumatoid arthritis to insulin-dependent diabetes mellitus loci: evidence supporting a hypothesis for the existence of common autoimmune susceptibility loci.
作者信息
Myerscough A, John S, Barrett J H, Ollier W E, Worthington J
机构信息
University of Manchester, UK.
出版信息
Arthritis Rheum. 2000 Dec;43(12):2771-5. doi: 10.1002/1529-0131(200012)43:12<2771::AID-ANR17>3.0.CO;2-V.
OBJECTIVE
To seek potential autoimmune disease susceptibility loci by testing for linkage and linkage disequilibrium between insulin-dependent diabetes mellitus (IDDM) susceptibility loci and rheumatoid arthritis (RA).
METHODS
Five IDDM susceptibility loci map to 2 chromosomal regions, chromosome 2q31-34 (IDDM7, 12, and 13) and chromosome 6q25-27 (IDDM5 and 8). Microsatellite markers within these regions were genotyped in 255 RA families, by fluorescence-based genotyping technology. Evidence for linkage disequilibrium was assessed using the extended transmission disequilibrium test (ETDT) program.
RESULTS
With the ETDT, we found evidence for linkage disequilibrium of the marker D6S446, at IDDM8, with RA (P < 0.0001). There was additional evidence for linkage disequilibrium with 2 markers at IDDMS (D6S311 and D6S440) (P = 0.016 and P = 0.017, respectively). There was no evidence for significant linkage disequilibrium of RA with any markers at IDDM7, 12, or 13.
CONCLUSION
These results support the hypothesis that there are autoimmune disease genes at IDDM5 and IDDM8.
目的
通过检测胰岛素依赖型糖尿病（IDDM）易感基因座与类风湿关节炎（RA）之间的连锁和连锁不平衡，寻找潜在的自身免疫性疾病易感基因座。
方法
五个IDDM易感基因座定位于2个染色体区域，即2号染色体q31 - 34（IDDM7、12和13）以及6号染色体q25 - 27（IDDM5和8）。采用基于荧光的基因分型技术，对255个RA家系中这些区域内的微卫星标记进行基因分型。使用扩展传递不平衡检验（ETDT）程序评估连锁不平衡的证据。
结果
通过ETDT，我们发现IDDM8处的标记D6S446与RA存在连锁不平衡的证据（P < 0.0001）。在IDDM5处还有另外2个标记（D6S311和D6S440）存在连锁不平衡的证据（分别为P = 0.016和P = 0.017）。没有证据表明RA与IDDM7、12或13处的任何标记存在显著连锁不平衡。
结论
这些结果支持IDDM5和IDDM8处存在自身免疫性疾病基因的假说。
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