在患有非综合征性唇腭裂的中欧人群中，转化生长因子β3（TGFB3）表现出亲本来源效应。
TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate.
作者信息
Reutter Heiko, Birnbaum Stefanie, Mende Meinhard, Lauster Carola, Schmidt Gül, Henschke Henning, Saffar Mitra, Martini Markus, Lauster Roland, Schiefke Franziska, Reich Rudolf H, Braumann Bert, Scheer Martin, Knapp Michael, Nöthen Markus M, Kramer Franz-Josef, Mangold Elisabeth
机构信息
Institute of Human Genetics, University of Bonn, Wilhelmstr. 31, 53111, Bonn, Germany.
Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany.
出版信息
J Hum Genet. 2008;53(7):656-661. doi: 10.1007/s10038-008-0296-9. Epub 2008 May 15.
Mice with a deletion of Tgf-beta3 (-/-) and association studies in humans of different ethnicities support the involvement of TGFB3 in the etiology of orofacial clefts. In this study, we investigated the relevance of TGFB3 in the development of cleft lip and palate (CL/P) among 204 triads of central European origin. Transmission-disequilibrium test (TDT) analysis revealed no significant transmission distortions for each marker alone, and none for any possible haplotypes. However, we found strong evidence for parent-of-origin effects, with lower risk of maternal transmission compared with paternal transmission [I (M) = 0.38; confidence interval (CI): 0.17-0.86] of the risk allele T to an affected offspring at marker rs2300607. This is also expressed in an increased risk of heterozygous children having the T allele inherited from the father (R (P) = 3.47; CI: 1.32-9.11). Our data support the involvement of TGFB3 in the development of oral clefts in patients of central European origin.
Tgf-beta3基因缺失的小鼠（-/-）以及不同种族人群的关联研究均支持TGFB3参与口面部裂隙的病因学过程。在本研究中，我们调查了TGFB3在204个中欧血统三联体中唇腭裂（CL/P）发生发展中的相关性。传递不平衡检验（TDT）分析显示，单独每个标记均无显著的传递扭曲，任何可能的单倍型也无传递扭曲。然而，我们发现了强有力的亲本来源效应证据，在标记rs2300607处，风险等位基因T向受影响后代的母系传递风险低于父系传递[I（M）=0.38；置信区间（CI）：0.17 - 0.86]。这也表现为从父亲遗传T等位基因的杂合子儿童风险增加（R（P）=3.47；CI：1.32 - 9.11）。我们的数据支持TGFB3参与中欧血统患者口腔裂隙的发生发展。
Zotero 插件