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A high and equal prevalence of the Q703K variant in NLRP3 patients with autoinflammatory symptoms and ethnically matched controls
M. Lidar1, Y. Brantz2, Y. Shinar3, H. Reznik-Wolf4, A. Livneh5, I. Ben Zvi6, R. Cohen7, Y. Berkun8, P.J. Hashkes9, H. Peleg10, A. Kessel11, G. Slobodin12, M. Rozenbaum13, O. Goldzweig14, E. Pras15
- Sheba Medical Centre, affiliated to the Sackler School of Medicine, Tel Aviv University, Israel.
- Sheba Medical Centre, affiliated to the Sackler School of Medicine, Tel Aviv University, Israel.
- Sheba Medical Centre, affiliated to the Sackler School of Medicine, Tel Aviv University, Israel.
- Sheba Medical Centre, affiliated to the Sackler School of Medicine, Tel Aviv University, Israel.
- Sheba Medical Centre, affiliated to the Sackler School of Medicine, Tel Aviv University, Israel.
- Sheba Medical Centre, affiliated to the Sackler School of Medicine, Tel Aviv University, Israel.
- Sheba Medical Centre, affiliated to the Sackler School of Medicine, Tel Aviv University, Israel.
- Hadassah Medical Centre, Jerusalem, Israel.
- Shaare Zedek Medical Centre, Tel Aviv, Israel.
- Hadassah Medical Centre, Jerusalem, Israel.
- Bnai Zion Medical Centre, Tel Aviv, Israel.
- Bnai Zion Medical Centre, Tel Aviv, Israel.
- Bnai Zion Medical Centre, Tel Aviv, Israel.
- Kaplan Medical Centre, Tel Aviv, Israel.
- Sheba Medical Centre, affiliated to the Sackler School of Medicine, Tel Aviv University, Israel. epras@post.tau.ac.il
CER10402
2017 Vol.35, N°6 ,Suppl.108
PI 0082, PF 0085
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PMID: 29148409 [PubMed]
Received: 12/03/2017
Accepted : 08/09/2017
In Press: 06/10/2017
Published: 27/11/2017
Abstract
OBJECTIVES:
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.
METHODS:
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.
RESULTS:
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.
CONCLUSIONS:
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.
