Loughlin J
University of Oxford, Institute of Molecular Medicine, Oxford, UK.
Curr Opin Rheumatol. 2001 Mar;13(2):111-6. doi: 10.1097/00002281-200103000-00004.
Primary osteoarthritis (OA) is a late onset disease that fits most accurately into the oligogenic, multifactorial class of genetic diseases. Twin pair and family risk studies have highlighted a surprisingly large genetic component to OA and have prompted the search for predisposing genes. These searches have taken three forms: (1) parametric linkage analysis of rare families in which OA segregates as a Mendelian trait, (2) model-free linkage analysis of affected sibling pairs, and (3) association analysis of known candidate genes. Within the past year linkage analysis studies have highlighted that chromosomes 2, 4, 6, 7, 11, 16, and the X may each harbor an OA susceptibility gene. Chromosomes 2, 4, and 16 were identified in multiple genome scans and are therefore the most likely to encode susceptibility. Association analysis of candidates suggests that the syntenic genes for type II collagen and the vitamin D receptor (12q12--q13.1) may also encode for OA susceptibility.
原发性骨关节炎（OA）是一种迟发性疾病，最准确地属于寡基因、多因素类遗传疾病。双胞胎和家族风险研究突出了OA中惊人的大遗传成分，并促使人们寻找易感基因。这些研究采取了三种形式：（1）对OA作为孟德尔性状分离的罕见家族进行参数连锁分析，（2）对患病同胞对进行无模型连锁分析，以及（3）对已知候选基因进行关联分析。在过去一年中，连锁分析研究突出表明，2号、4号、6号、7号、11号、16号染色体以及X染色体可能各自含有一个OA易感基因。在多次全基因组扫描中都发现了2号、4号和16号染色体，因此它们最有可能编码易感性。对候选基因的关联分析表明，II型胶原蛋白和维生素D受体（12q12 - q13.1）的同线基因也可能编码OA易感性。
