LRCH1作为骨关节炎易感基因座的遗传关联分析。
Genetic association analysis of LRCH1 as an osteoarthritis susceptibility locus.
作者信息
Snelling S, Sinsheimer J S, Carr A, Loughlin J
机构信息
University of Oxford, Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Orthopaedic Centre, Oxford OX3 7LD, UK.
出版信息
Rheumatology (Oxford). 2007 Feb;46(2):250-2. doi: 10.1093/rheumatology/kel265. Epub 2006 Aug 5.
OBJECTIVE
A genetic association with knee osteoarthritis (OA) of a single nucleotide polymorphism (SNP) in intron 1 of the LRCH1 gene was recently reported in a UK Caucasian case-control sample and confirmed in a Newfoundland Caucasian sample. Our objective was to assess whether the SNP was associated with OA in our large UK Caucasian sample.
METHODS
The SNP was genotyped in 1521 cases that had undergone elective joint replacement of the hip (1098 cases), of the knee (340 cases) or of the hip and knee (83 cases) due to end-stage primary OA. The SNP was also genotyped in 736 controls of similar ages in the cases.
RESULTS
There was no significant difference (all P-values >0.05) in genotype or allele frequencies between our cases and our controls. There was also no significant difference when the cases were stratified by sex, by joint replaced or by sex combined with joint replaced.
CONCLUSION
Our data on 2257 individuals implies that the LRCH1 intron 1 SNP is not a risk factor for OA aetiology of the knee or of the hip in our UK Caucasian sample.
目的
最近在一个英国白种人病例对照样本中报道了LRCH1基因内含子1中的一个单核苷酸多态性（SNP）与膝关节骨关节炎（OA）存在遗传关联，并在一个纽芬兰白种人样本中得到证实。我们的目的是评估该SNP在我们的大型英国白种人样本中是否与OA相关。
方法
对1521例因终末期原发性OA而接受髋关节（1098例）、膝关节（340例）或髋关节和膝关节（83例）择期关节置换的病例进行该SNP基因分型。还对736例年龄与病例相似的对照进行该SNP基因分型。
结果
病例组和对照组之间的基因型或等位基因频率无显著差异（所有P值>0.05）。当按性别、置换关节或性别与置换关节联合分层时，病例组之间也无显著差异。
结论
我们对2257名个体的数据表明，在我们的英国白种人样本中，LRCH1内含子1 SNP不是膝关节或髋关节OA病因学的危险因素。
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