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Clin Exp Rheumatol. 2017 Nov-Dec;35 Suppl 108(6):82-85. Epub 2017 Oct 6.

A high and equal prevalence of the Q703K variant in NLRP3 patients with autoinflammatory symptoms and ethnically matched controls.

Author information

1
Sheba Medical Centre, affiliated to the Sackler School of Medicine, Tel Aviv University, Israel.
2
Hadassah Medical Centre, Jerusalem, Israel.
3
Shaare Zedek Medical Centre, Tel Aviv, Israel.
4
Bnai Zion Medical Centre, Tel Aviv, Israel.
5
Kaplan Medical Centre, Tel Aviv, Israel.
6
Sheba Medical Centre, affiliated to the Sackler School of Medicine, Tel Aviv University, Israel. epras@post.tau.ac.il.

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.

PMID:
29148409
[Indexed for MEDLINE]

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