The penetrance of the p.[Met694Val];[Met694Val] genotype of pyrin in adult familial Mediterranean fever (FMF) patients is close to 100%. Disease penetrance of the p.[Met694Val];[Glu148Gln] genotype (M694V/E148Q), and the heterozygous p.[Met694Val];[=] genotype is unknown. A difference in the penetrance of the latter two may indicate functionality for the p.Glu148Gln variant. We performed a penetrance estimation study using controls and patients of North African Jewish (NAJ) decent. FMF in this population is highly prevalent and mutation frequencies are well known. The ratio between the calculated frequencies of the three genotypes obtained from the control cohort and the actual frequency obtained from the patient cohort were used to determine the penetrance of p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=]. We found a penetrance of 0.135 and 0.008 for p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=], respectively. Thus, the penetrance of p.[Met694Val];[Glu148Gln] is more than 17 times higher than p.[Met694Val];[=], indicating an active role for p.Glu148Gln when combined with p.Met694Val.

中文翻译：

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家族性地中海热：p.[Met694Val];[Glu148Gln] 和 p.[Met694Val];[=] 基因型的外显率。

p.[Met694Val];[Met694Val] pyrin 基因型在成人家族性地中海热 (FMF) 患者中的外显率接近 100%。p.[Met694Val];[Glu148Gln] 基因型 (M694V/E148Q) 和杂合 p.[Met694Val];[=] 基因型的疾病外显率未知。后两者的外显率差异可能表明 p.Glu148Gln 变体的功能。我们使用对照和北非犹太人 (NAJ) 体面的患者进行了外显率估计研究。该人群中的 FMF 非常普遍，并且突变频率是众所周知的。从对照队列获得的三种基因型的计算频率与从患者队列获得的实际频率之间的比率用于确定 p.[Met694Val];[Glu148Gln] 和 p.[Met694Val];[=] . 我们发现外显率为 0.135 和 0。p.[Met694Val];[Glu148Gln] 和 p.[Met694Val];[=] 分别为 008。因此，p.[Met694Val];[Glu148Gln] 的外显率是 p.[Met694Val];[=] 的 17 倍以上，表明 p.Glu148Gln 与 p.Met694Val 结合时具有积极作用。