Brophy Sinead, Taylor Gordon, Blake David, Calin Andrei
Epidemiology Department, Royal National Hospital for Rheumatic Disease, Upper Borough Walls, Bath BA1 1RL, UK.
J Rheumatol. 2003 Sep;30(9):2054-8.
To examine the evidence that families, where the mother has disease, carry more heritable factors and investigate the effect of maternal/paternal inheritance on phenotypic expression of disease in terms of (a) severity and outcome and (b) additional co-disorders. The children of women with ankylosing spondylitis (AS) develop the disease more often than the children of men. This suggests that either women with disease carry more susceptibility factors than men or that the uterine environment/breast feeding may play a role in AS.
The number of second degree relatives (i.e., grandparent, aunt/uncle) was calculated for those index patients with a mother with disease as opposed to a father. Outcome measures were compared and prevalence of secondary disorders (i.e., psoriasis, iritis, inflammatory bowel disease) was examined in patients with an AS mother as opposed to an AS father.
The affected offspring of maternal cases had more second degree relatives with disease [20% vs 9%, respectively, p = 0.012, odds ratio (OR): 2.3, 95% confidence interval (CI): 1.2, 4.5] than did children of affected men. The affected children of a mother with AS were comparable in terms of disease activity, function, and radiology to children of a father with disease. Inflammatory bowel disease was more prevalent among children of AS mothers than AS fathers (15% vs 5%, respectively, p = 0.009, OR: 2.9, 95% CI: 1.3, 6.3). Psoriasis was less prevalent among sons of AS mothers than among sons of AS fathers (9% vs 22%, respectively, p = 0.03, OR: 0.4, 95% CI: 0.2, 0.9).
The inherited susceptibility load is strongly linked to the sex of the parent with AS. Women with disease carry higher heritability (which is associated with inflammatory bowel disease) than do men. There is a male sex impact on susceptibility to psoriasis (when AS is present). However, there is no evidence that the susceptibility load has an effect on outcome or severity of disease (as measured by disease activity, function, and radiology), or that outcome is influenced by transmission of maternal as opposed to paternal factors.
研究母亲患有疾病的家庭携带更多遗传因素的证据，并从以下方面调查母系/父系遗传对疾病表型表达的影响：（a）严重程度和结局；（b）其他合并症。强直性脊柱炎（AS）女性患者的子女比男性患者的子女更易患该病。这表明患病女性比男性携带更多的易感因素，或者子宫环境/母乳喂养可能在AS发病中起作用。
计算母亲患病与父亲患病的指数患者的二级亲属（即祖父母、姑姑/叔叔）数量。比较结局指标，并检查母亲患AS与父亲患AS的患者中继发疾病（即银屑病、虹膜炎、炎症性肠病）的患病率。
母亲患病的受累后代比父亲患病的后代有更多患疾病的二级亲属[分别为20%和9%，p = 0.012，优势比（OR）：2.3，95%置信区间（CI）：1.2，4.5]。母亲患AS的受累子女在疾病活动度、功能和放射学方面与父亲患AS的子女相当。炎症性肠病在母亲患AS的子女中比在父亲患AS的子女中更常见（分别为15%和5%，p = 0.009，OR：2.9，95%CI：1.3，6.3）。银屑病在母亲患AS的儿子中比在父亲患AS的儿子中更少见（分别为9%和22%，p = 0.03，OR：0.4，95%CI：0.2，0.9）。
遗传易感性负荷与患AS的亲本性别密切相关。患病女性比男性具有更高的遗传度（与炎症性肠病相关）。男性性别对银屑病易感性有影响（当存在AS时）。然而，没有证据表明易感性负荷对疾病的结局或严重程度有影响（通过疾病活动度、功能和放射学衡量），也没有证据表明结局受母系因素与父系因素传递的影响。
