Risk for multiple sclerosis in relatives and spouses of patients diagnosed with autoimmune and related conditions
Risk for multiple sclerosis in relatives and spouses of patients diagnosed with autoimmune and related conditions
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DOI：
10.1007/s10048-008-0156-y
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发表时间：
2009-02-01
期刊：
影响因子：
2.2
通讯作者：
Sundquist, Kristina
中科院分区：
文献类型：
--
作者：
Hemminki, Kari;Li, Xinjun;Sundquist, Kristina
在复杂的疾病遗传学时代，在评估这些研究的可能成功时，考虑家族风险是很重要的。在本文中，我们研究了当一名家庭成员被诊断为多发性硬化症或其他33种自身免疫性疾病中的任何一种时，父母及其子女、独生子女、双胞胎和配偶患多发性硬化症的家族风险。瑞典提供了多代登记册，这为上个世纪的家庭提供了可靠的途径。个别家庭成员的疾病是通过与医院出院登记册相关联而获得的。总共有425,102名患者，其中11,154人被诊断为多发性硬化症，这是迄今为止对这些疾病进行的最大规模的基于人群的家庭研究。计算MS患者家庭成员与缺乏受影响家庭成员的标准化发病率比(SIR)。MS的SIR在患病父母的子女中为5.94(父母年龄在73岁时为6.12)，在独生子女中为6.25，在双胞胎中为9.09，在配偶中为1.50(无显著意义)；SIRS不依赖于性别。当父母一方被诊断为肌萎缩侧索硬化症和父母哮喘时，MS的SIRS为1.84和1.14。当父母被诊断出患有任何自身免疫性疾病时，患多发性硬化症的总体风险为1.21。到目前为止，这些基因与多发性硬化症相关，对多发性硬化症的家族聚集性解释很少，需要进一步努力进行基因鉴定。MS与肌萎缩侧索硬化症和哮喘的共同家族性风险提示有共同的遗传基础。
In the era of complex disease genetics, the consideration of familial risks is important in the assessment of the likely success of these studies. In the present article, we study familial risks for multiple sclerosis (MS) among parents and offspring, singleton siblings, twins, and spouses when a family member was diagnosed with MS or any of 33 other autoimmune diseases. The availability of a Multigeneration Register in Sweden provides a reliable access to families throughout the last century. The diseases in individual family members were obtained through linkage to the Hospital Discharge Register. With a total patient population of 425,102 of whom 11,154 were diagnosed with MS, this is the largest population-based family study on these diseases to date. Standardized incidence ratio (SIR) was calculated for family member of MS patients compared to those lacking an affected family member. SIR for MS was 5.94 (6.12 when parents were aged < 73 years) in offspring of affected parents, 6.25 in singleton siblings, 9.09 in twins, and 1.50 (nonsignificant) in spouses; the SIRs did not depend on the gender. The SIRs for MS were 1.84 when a parent was diagnosed with amyotrophic lateral sclerosis and 1.14 with parental asthma. The overall risk of MS was 1.21 when a parent was diagnosed with any autoimmune disease. The genes, so far associated with MS, explain little of the familial aggregation of MS, calling for further efforts in gene identification. The shared familial risks of MS with amyotrophic lateral sclerosis and asthma suggest shared genetic basis.