Lanyon P, Muir K, Doherty S, Doherty M
Department of Rheumatology, Queens Medical Centre, Nottingham, NG7 2UH, UK.
Ann Rheum Dis. 2004 Mar;63(3):259-63. doi: 10.1136/ard.2002.003780.
To determine whether the magnitude of the genetic influence on the development of hip osteoarthritis (OA) varies according to the radiographic phenotype within families.
331 families in which at least one sibling (index participant) had undergone total hip replacement for OA and whose preoperative x ray findings were available; 505 siblings of these index participants, who have high exposure to genetic risk of hip OA; and 1718 participants who had previously undergone intravenous urography, representative of the average general population exposure to genetic risk. Prevalence of hip OA was determined by individual radiographic features and minimum hip joint space. OA phenotype was partitioned according to pattern of femoral head migration and osteophyte bone response. Age adjusted odds ratios for hip OA in siblings, stratified according to phenotypic pattern in their index sibling, were assessed by unconditional logistic regression.
The superior pattern of femoral head migration was more common in men, and the axial pattern more common in women. A poor bone response (absent osteophytosis) was associated with an indeterminate pattern of migration. The age adjusted odds ratios for definite hip OA were twofold higher in siblings of index participants who had no osteophyte response than in siblings whose index case had any degree of osteophyte (OR 2.05, 95% CI 1.12 to 3.76). The risk of the siblings from these families having undergone hip replacement themselves was threefold higher. Patterns of migration and bone response were not concordant within families, even among same sex siblings.
Careful phenotypic characterisation is essential for genetic studies of hip OA. The results of these studies are likely to be influenced by the phenotypic pattern of hip disease, particularly osteophyte bone response.
确定家族中遗传因素对髋关节骨关节炎(OA)发展的影响程度是否因影像学表型而异。
331个家庭,其中至少有一名兄弟姐妹(索引参与者)因OA接受了全髋关节置换术且术前X线检查结果可用;这些索引参与者的505名兄弟姐妹,他们有较高的髋关节OA遗传风险暴露;以及1718名曾接受静脉肾盂造影的参与者,代表一般人群的平均遗传风险暴露。通过个体影像学特征和最小髋关节间隙确定髋关节OA的患病率。OA表型根据股骨头移位模式和骨赘骨反应进行划分。通过无条件逻辑回归评估根据其索引兄弟姐妹的表型模式分层的兄弟姐妹中髋关节OA的年龄调整比值比。
股骨头向上移位模式在男性中更常见,轴向移位模式在女性中更常见。骨反应差(无骨赘形成)与不确定的移位模式相关。在没有骨赘反应的索引参与者的兄弟姐妹中,确诊髋关节OA的年龄调整比值比是其索引病例有任何程度骨赘的兄弟姐妹的两倍(比值比2.05,95%可信区间1.12至3.76)。这些家庭中其兄弟姐妹自身接受髋关节置换的风险高三倍。即使在同性别的兄弟姐妹中,家庭内部的移位模式和骨反应也不一致。
仔细的表型特征描述对于髋关节OA的遗传研究至关重要。这些研究结果可能会受到髋关节疾病表型模式的影响,尤其是骨赘骨反应。