Differential parental transmission of markers in BCL3 among Korean cleft case-parent trios.
Differential parental transmission of markers in BCL3 among Korean cleft case-parent trios.
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DOI：
10.3961/jpmph.2009.42.1.1
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发表时间：
2009-01
期刊：
影响因子：
--
通讯作者：
Beaty TH
中科院分区：
文献类型：
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作者：
Park BY;Sull JW;Park JY;Jee SH;Beaty TH
孤立性唇裂伴或不伴腭裂（CL/P）是人类最常见的出生缺陷之一，患病率约为1/700活产婴儿。B细胞白血病/淋巴瘤3（BCL 3）基因已被建议为CL/P的候选基因的基础上的关联和连锁研究在一些人群中。本研究使用病例-父母三人组设计，同时考虑父母来源效应，检测BCL 3标记物与孤立的非综合征CL/P之间的相关性。对40个病例父母三人组进行了BCL 3基因中两个单核苷酸多态性（SNP）的基因分型。我们对单个SNP进行了传递不平衡检验（TDT），并使用FAMHAP软件包估计单倍型频率，并检测多SNP单倍型的过度传递。当不考虑父母来源时，SNP rs 8100239（OR=3.50，p=0.004）和rs 2965169（OR=2.08，p=0.027）的次要等位基因传递的比值比OR（传递）是显著的。父母特异性TDT显示SNP rs 8100239表现出过度的母体传播。对rs 2965169和rs 8100239单倍型的分析也表明了过度的母婴传播。BCL 3似乎通过母体过度传播的父母效应影响CL/P的风险。
Isolated cleft lip with or without cleft palate (CL/P) is among the most common human birth defects, with a prevalence of approximately 1 in 700 live births. The B-Cell Leukemia/lymphoma 3 (BCL3) gene has been suggested as a candidate gene for CL/P based on association and linkage studies in some populations. This study tests for an association between markers in BCL3 and isolated, non-syndromic CL/P using a case-parent trio design, while considering parent-of-origin effects. Forty case-parent trios were genotyped for two single nucleotide polymorphisms (SNPs) in the BCL3 gene. We performed a transmission disequilibrium test (TDT) on individual SNPs, and the FAMHAP package was used to estimate haplotype frequencies and to test for excess transmission of multi-SNP haplotypes. The odds ratio for transmission of the minor allele, OR (transmission), was significant for SNP rs8100239 (OR=3.50, p=0.004) and rs2965169 (OR=2.08, p=0.027) when parent-of-origin was not considered. Parent-specific TDT revealed that SNP rs8100239 showed excess maternal transmission. Analysis of haplotypes of rs2965169 and rs8100239 also suggested excess maternal transmission. BCL3 appears to influence risk of CL/P through a parent-of-origin effect with excess maternal transmission.