EVIDENCE FOR AUTOSOMAL-DOMINANT INHERITANCE AND RACE-SPECIFIC HETEROGENEITY IN EARLY-ONSET PERIODONTITIS
EVIDENCE FOR AUTOSOMAL-DOMINANT INHERITANCE AND RACE-SPECIFIC HETEROGENEITY IN EARLY-ONSET PERIODONTITIS
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DOI：
10.1902/jop.1994.65.6.623
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发表时间：
1994-06-01
影响因子：
4.3
通讯作者：
SCHENKEIN, HA
中科院分区：
文献类型：
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作者：
MARAZITA, ML;BURMEISTER, JA;SCHENKEIN, HA
早发性牙周炎（EOP）是指一组严重的牙周疾病，发病年龄接近青春期，其特征是在其他健康个体中支持牙齿的组织迅速破坏。对104例EOP先证者确定的100个家系进行了混合模型分离分析，以检验EOP病因的主基因座和多因素假设。异方差检验用于比较黑人家庭与非黑人家庭的参数估计值和结论。在这些家庭的数据证实，经常报告的女性优势的EOP似乎是一个确定的偏见。分离分析结果与常染色体主要基因座一致，足以解释整个数据集以及黑人和非黑人子集中的EOP家族模式。最有可能的是一种主要的传播方式，感染率约为70%。虽然病因的结论是相同的黑人和非黑人家庭，有显着的异质性参数估计。特别是黑人等位基因频率为0.016，而非黑人等位基因频率为0.001。
EARLY-ONSET PERIODONTITIS (EOP) refers to a group of severe periodontal diseases with age of onset near puberty that are characterized by rapid destruction of the tissues supporting the teeth in otherwise healthy individuals. Mixed model segregation analyses of 100 families, ascertained through 104 probands with EOP, were carried out to test major locus and multifactorial hypotheses for the etiology of EOP. Heterogeneity tests were used to compare the parameter estimates and conclusions obtained in Black families from those from non-Black families. The data in these families confirmed that the often-reported female preponderance of EOP appears to be an ascertainment bias. The segregation analysis results were consistent with an autosomal major locus being sufficient to explain the family patterns of EOP in the entire dataset, and also in both the Black and non-Black subsets. A dominant mode of transmission was most likely, with penetrance of about 70%. Although the etiologic conclusions were the same for Black and non-Black families, there was significant heterogeneity in parameter estimates. In particular the Black allele frequency was 0.016 versus the non-Black frequency of 0.001.