Genetic linkage analysis of oral lichen planus in a Chinese family.
Genetic linkage analysis of oral lichen planus in a Chinese family.
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DOI：
10.4238/vol10-3gmr1137
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发表时间：
2011
期刊：
影响因子：
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通讯作者：
Zhiqiang Wang;H. Yao;B. Cui;G. Ning;Tang Gy
中科院分区：
文献类型：
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作者：
Zhiqiang Wang;H. Yao;B. Cui;G. Ning;Tang Gy
口腔扁平苔藓（OLP）是一种常见的口腔炎症性疾病，约占一般成人人群的1-2%。与被诊断为OLP的欧洲家庭一样，我们研究的中国家庭被诊断为严重的口腔网状和糜烂性病变;此外，五个受影响的个体中有两个在早期发展为口腔癌。利用10 K SNP芯片进行全基因组基因分型和连锁分析，研究中国人OLP家系的遗传易感性，发现SNP标记rs 2372736的最大非参数LOD值为2.32（P = 0.0156），该标记位于染色体3 p14 - 3q 13区域，包含19个SNP。从10名家庭成员那里采集了血液样本，其中包括祖母、父亲和母亲，以及所有的孩子。祖父已经去世，但家人记得他也患有同样的疾病。染色体3 p14 - 3q 13被确定为OLP的候选基因区域，这一信息为进一步鉴定OLP的基因提供了基础。
Oral lichen planus (OLP) is a common oral inflammatory disease affecting about 1-2% of the general adult population. As with European families who are diagnosed with OLP, the Chinese family who we studied was diagnosed with a severe form of oral reticular and erosive lesions; moreover, two of the five affected individuals developed oral cancer at an early age. A whole-genome genotyping scan with linkage analysis was performed using the 10K SNP array to investigate the genetic susceptibility of the Chinese family to OLP, which revealed one maximal nonparametric LOD score of 2.32 (P = 0.0156) for SNP marker rs2372736, defined at the chromosome 3p14-3q13 region encompassing 19 SNPs. Blood samples were obtained from 10 members of the family, which included the grandmother, father and mother, and the children altogether. The grandfather is dead, but the family members remembered he also suffered from the same disease. Chromosome 3p14-3q13 was identified as the candidate gene region for OLP; this information provides a foundation for further identification of the gene responsible for OLP.