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Three functional variants in the NLRP3 gene are associated with susceptibility and clinical characteristics of systemic lupus erythematosus

Lupus May 13, 2021

Ehtesham N, Rafie MZ, Esmaeilzadeh E, et al. - This study was undertaken to investigate the possible relationship between three functional polymorphisms in this gene and systemic lupus erythematosus (SLE) risk in the Iranian population. Researchers compared these variants to include two gains of function (rs4612666 and rs10754558) and one loss of function (rs6672995) with modulation of expression of Nod-like receptor pyrin domain containing 3 (NLRP3). They conducted a case-control study including 110 SLE patients and 116 control individuals to calculate the frequency of rs4612666, rs10754558, and rs6672995 genotypes using the real-time PCR high resolution melting method. These findings illustrate a substantial relationship between NLRP3 polymorphisms with increased risk, clinical symptoms, and the severity of disease activity of SLE.

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