Lidar Merav, Brantz Yael, Shinar Yael, Reznik-Wolf Haike, Livneh Avi, Ben Zvi Ilan, Cohen Rinat, Berkun Yaakov, Hashkes Philip J, Peleg Hagit, Kessel Aharon, Slobodin Gleb, Rozenbaum Michael, Goldzweig Ofra, Pras Elon
Sheba Medical Centre, affiliated to the Sackler School of Medicine, Tel Aviv University, Israel.
Hadassah Medical Centre, Jerusalem, Israel.
Clin Exp Rheumatol. 2017 Nov-Dec;35 Suppl 108(6):82-85. Epub 2017 Oct 6.
Cryopyrin associated periodic syndromes (CAPS) comprise a spectrum of autoinflammatory disorders of varying severity caused by mutations in the NLRP3 gene. The NLRP3-Q703K allele has been reported both as a functional polymorphism and as a low penetrance mutation.
To describe the clinical phenotype of subjects with the Q703K allele and to report the frequency of this allele among patients with autoinflammatory symptoms and healthy controls. To this end, a cohort of 10 ethnically-matched controls per each Q703K-carrying patient, was composed.
Ninety patients suspected of harboring a systemic autoinflammatory disease (SAID), exclusive of FMF, were referred to our center for genotyping between 2012 and 2015. Fourteen of them (15.5%) were found to carry the Q703K allele, compared to 22 of 130 (16.9%) healthy, ethnically matched controls.
The similar carrier rate of the NLRP3-Q703K allele among patients with manifestations of a SAID and an ethnically matched control group suggest that this variant, does not determine the clinical phenotype. This reiterates the importance of testing a control group to avoid erroneously attributing a causative role to a gene polymorphism.
冷吡啉相关周期性综合征（CAPS）是由NLRP3基因突变引起的一系列严重程度不同的自身炎症性疾病。NLRP3 - Q703K等位基因既被报道为一种功能性多态性，也被报道为一种低外显率突变。
描述携带Q703K等位基因的受试者的临床表型，并报告该等位基因在有自身炎症症状的患者和健康对照中的频率。为此，为每位携带Q703K的患者组建了一组10名种族匹配的对照。
2012年至2015年间，90名疑似患有系统性自身炎症性疾病（SAID，不包括家族性地中海热）的患者被转诊至我们中心进行基因分型。其中14人（15.5%）被发现携带Q703K等位基因，相比之下，130名种族匹配健康对照中有22人（16.9%）携带该等位基因。
SAID患者和种族匹配对照组中NLRP3 - Q703K等位基因的携带率相似，这表明该变异并不决定临床表型。这再次强调了检测对照组以避免错误地将基因多态性归因于致病作用的重要性。
