复杂分离分析为强直性脊柱炎中国汉族家系的常染色体显性遗传提供证据。
Complex Segregation Analysis Provides Evidence for Autosomal Dominant Transmission in the Chinese Han Families with Ankylosing Spondylitis.
机构信息
Department of Rheumatology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Department of Medical Statistics and Epidemiology, School of Public Health, Guangdong Medical University, Dongguan, China.
出版信息
Biomed Res Int. 2017;2017:4515701. doi: 10.1155/2017/4515701. Epub 2017 Dec 3.
INTRODUCTION
Familial aggregation of ankylosing spondylitis (AS) has been frequently noticed. However, the mode of inheritance in AS remains poorly understood. Our aim was to determine the mode of inheritance best fitting the observed transmission pattern of AS families.
METHODS
Families with 5 or more AS patients diagnosed with 1984 modified New York criteria were recruited. We performed complex segregation analysis for a binary trait in regressive multivariate logistic models. The inheritance models, including sporadic, major gene, environmental, general, and other 9 models, were compared by likelihood ratio tests and Akaike's Information Criterion.
RESULTS
This research included 9 Chinese Han AS families with a total number of 315 persons, including 74 patients. First, familial association was determined. Sporadic with familial association model was rejected when compared with either the general model or the homogeneous general model ( < 0.001). The environmental model was also rejected when compared with general models ( < 0.02). Mendelian dominate mode fitted best in 5 AS families, while Tau AB free model best explained the mode of inheritance in these AS families.
CONCLUSION
This study provided evidence in support of Mendelian dominant mode and firstly discovered a non-Mendelian mode called tau AB free inheritance mode in AS.
引言：强直性脊柱炎（AS）常有家族聚集现象。然而，其遗传模式仍知之甚少。本研究旨在确定最符合观察到的 AS 家族遗传模式的遗传方式。
方法：本研究纳入了符合 1984 年纽约标准的 5 例及以上 AS 患者的家族。我们采用回归多变量逻辑模型对二值性状进行复杂分离分析。通过似然比检验和赤池信息量准则比较遗传模型，包括散发、主基因、环境、一般和其他 9 种模型。
结果：本研究共纳入 9 个汉族 AS 家系，共 315 人，其中 74 人为患者。首先，确定了家族关联性。散发伴家族聚集模型与一般模型或同质性一般模型相比（<0.001），均被拒绝。环境模型与一般模型相比（<0.02）也被拒绝。5 个 AS 家系中显性遗传模式拟合最好，而 Tau AB 自由模型则最好地解释了这些 AS 家系的遗传模式。
结论：本研究为显性遗传模式提供了证据，并首次发现了一种非孟德尔遗传模式，即 Tau AB 自由遗传模式。
Zotero 插件