A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance.
A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance.
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DOI：
10.1136/jmg.2009.069385
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发表时间：
2010-03
影响因子：
4
通讯作者：
Christensen K
中科院分区：
文献类型：
--
作者：
Grosen D;Chevrier C;Skytthe A;Bille C;Mølsted K;Sivertsen A;Murray JC;Christensen K
在大样本人群中，确定口腔裂的解剖严重程度是否影响家族性复发。为一、二、三级亲属提供可靠的口腔裂复发风险评估。丹麦基于人群的队列研究1952年至2005年出生的6776名口腔裂患者和54229名亲属。一级、二级和三级亲属口腔裂复发风险评估和一级亲属的严重程度、特异性、起源父母效应和家庭规模的分层。对于唇腭裂先证者，我们观察到一级、二级和三级亲属的复发风险分别为3.5%(95%可信区间3.1%至4.0%)、0.8%(0.6%至1.0%)和0.6%(0.4%至0.8%)。受最严重口腔裂影响的个体在后代和兄弟姐妹中的复发风险都显著更高，例如，患有单侧唇裂合并腭裂的先证者的兄弟姐妹的复发风险为4.6%(3.2~6.1)，而先证者出生时患有单侧唇裂的兄弟姐妹的复发风险为2.5%(1.8~3.2)。解剖严重程度确实对一级亲属的复发有影响，裂隙的类型是复发类型的预测因素。除了对一级和二级亲属的更准确的估计外，还提供了对近亲复发的高度可靠的估计。这些结果和大多数先前的数据继续支持遗传的多因素阈值模型。
To determine if the anatomical severity of oral clefting affects familial recurrence in a large population based sample. To provide reliable recurrence risk estimates for oral cleft for first-, second-, and third-degree relatives. Population based cohort study Denmark 6,776 individuals affected with an oral cleft born from 1952 to 2005 and 54,229 relatives. Recurrence risk estimates for oral cleft for first-, second-, and third-degree relatives and stratification by severity, specificity, parent of origin effect, and family size for first-degree relatives. For cleft lip and palate probands we observed recurrence risks for first-, second-, and third degree relatives of respectively 3.5% (95% confidence interval 3.1% to 4.0%), 0.8 % (0.6% to 1.0%), and 0.6% (0.4% to 0.8%). Individuals affected by the most severe oral cleft had a significantly higher recurrence risk among both offspring and siblings, e.g. the recurrence risk for siblings of a proband with isolated bilateral cleft lip with cleft palate was 4.6% (3.2 to 6.1) versus 2.5% (1.8 to 3.2) for a proband born with a unilateral defect. Anatomical severity does have an effect on recurrence in first-degree relatives and the type of cleft is predictive of the recurrence type. Highly reliable estimates of recurrence have been provided for first cousins in addition to more accurate estimates for first and second degree relatives. These results and the majority of prior data continue to support a multifactorial threshold model of inheritance.
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影响因子：
2
作者：
Genisca, Alicia E.;Frias, Jaime L.;Broussard, Cheryl S.;Honein, Margaret A.;Lammer, Edward J.;Moore, Cynthia A.;Shaw, Gary M.;Murray, Jeffrey C.;Yang, Wei;Rasmussen, Sonja A.
通讯作者：
Rasmussen, Sonja A.
DOI：
10.1002/ajmg.1320470620
发表时间：
1993-11-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
CHRISTENSEN, K;FOGHANDERSEN, P
通讯作者：
FOGHANDERSEN, P
影响因子：
30.8
作者：
Birnbaum, Stefanie;Ludwig, Kerstin U.;Mangold, Elisabeth
通讯作者：
Mangold, Elisabeth
影响因子：
1.9
作者：
DAVIE, AM
通讯作者：
DAVIE, AM
DOI：
10.1597/03-139.1
发表时间：
2005-05-01
期刊：
CLEFT PALATE-CRANIOFACIAL JOURNAL
影响因子：
--
作者：
Bille, C;Knudsen, LB;Christensen, K
通讯作者：
Christensen, K