Family-based association analysis validates chromosome 3p21 as a putative nasopharyngeal carcinoma susceptibility locus
Family-based association analysis validates chromosome 3p21 as a putative nasopharyngeal carcinoma susceptibility locus
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DOI：
10.1097/01.gim.0000196821.87655.d0
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发表时间：
2006-03-01
影响因子：
8.8
通讯作者：
Li, GY
中科院分区：
文献类型：
--
作者：
Zeng, ZY;Zhou, YH;Li, GY
目的：鼻咽癌（NPC）是中国南方地区严重的健康问题之一，发病率在15 - 50/100,000之间。在我们之前的连锁分析中，我们发现3p21上的一个位点与NPC相关。本研究对湖南省18个鼻咽癌高危家族的染色体3p遗传不平衡进行了家族关联分析。方法：采用Genehunter程序包对18个鼻咽癌家系的15个染色体3p微卫星标记进行单位点和多点传播不平衡检验。结果：在3p21.31-3p21.2染色体D3S1298 ~ D3S1289的12.4 cM区域内，在D3S1568附近出现了一个主要的传播不平衡峰，共有6个位点的20个等位基因或单倍型，其中3个等位基因或单倍型差异显著（P < 0.01）。结论：这些结果反映了该染色体区域与鼻咽癌易感位点之间的连锁不平衡，并进一步证明了一个新的鼻咽癌易感基因可能位于该染色体区域。这些在鼻咽癌家系中传递不平衡的等位基因或单倍型经大量人群验证后可能作为鼻咽癌的高危分子标记。
Purpose: Nasopharyngeal carcinoma (NPC) poses one of the serious health problems in southern Chinese, with an incidence rate ranging from 15 to 50/100,000. In our previously linkage analysis, a locus on 3p21 was identified to link to NPC. In this study, family-based association analysis was performed to test the transmission disequilibrium of chromosome 3p in 18 high-risk nasopharyngeal carcinoma families of Hunan province in southern China. Methods: Single locus and multi-point of transmission disequilibrium test was performed by Genehunter program package with 15 microsatellite markers on chromosome 3p in 18 nasopharyngeal carcinoma pedigrees. Results: A major transmission disequilibrium peak was observed near D3S1568, which possessed 20 alleles or haplotypes of 6 loci, spanning a 12.4 cM region from D3S1298 to D3S1289 on chromosome 3p21.31-3p21.2, and 3 alleles or haplotypes reached high significantly difference (P < 0.01). Conclusion: These results reflected a link disequilibrium between this chromosome region and a nasopharyngeal carcinoma susceptibility locus, and provided further evidence that a novel nasopharyngeal carcinoma susceptibility gene may be located in this chromosome region. These alleles or haplotypes transmitting disequilibrium in nasopharyngeal carcinoma pedigrees may act as the highly risk molecular markers after verified in large population.