The Missense VariationQ705KinCIAS1/NALP3/NLRP3Gene and anNLRP1Haplotype Are Associated With Celiac Disease

A Pontillo, A Vendramin, E Catamo… - Official journal of the …, 2011 - journals.lww.com
A Pontillo, A Vendramin, E Catamo, A Fabris, S Crovella
Official journal of the American College of Gastroenterology| ACG, 2011•journals.lww.com
OBJECTIVES: Celiac disease (CD) is a multifactorial common disorder with several
susceptibility loci. Variations in the NALP1/NLRP1 and NALP3/NLRP3 genes have been
reported to confer risk for several autoimmune conditions. We hypothesized that
polymorphisms in these genes, due to their role in innate immunity and inflammatory
processes, may affect susceptibility to CD. METHODS: Two single-nucleotide
polymorphisms (SNPs) in NLRP1 (rs12150220, rs2670660) and two SNPs (rs10754558 …
OBJECTIVES: Celiac disease (CD) is a multifactorial common disorder with several susceptibility loci. Variations in the NALP1/NLRP1 and NALP3/NLRP3 genes have been reported to confer risk for several autoimmune conditions. We hypothesized that polymorphisms in these genes, due to their role in innate immunity and inflammatory processes, may affect susceptibility to CD.
METHODS: Two single-nucleotide polymorphisms (SNPs) in NLRP1 (rs12150220, rs2670660) and two SNPs (rs10754558, rs35829419) in NLRP3 genes were genotyped in 504 CD Italian patients and 256 healthy controls.
RESULTS: The minor A allele of NLRP3 rs35829419 (Q705K) polymorphism appeared to exert a protective role against the development of CD (P= 0.029; odds ratio (OR)= 0.56). Moreover, a particular NLRP1 haplotype was associated with predisposition to CD (P= 0.003; OR= 1.38), even more when present in combination with the rs35829419 major C allele (P= 0.002; OR= 1.42).
CONCLUSIONS: We hypothesized that the deregulation of CIAS1/NALP3/NLRP3 and NALP1/NLRP1 inflammasomes could have a role in CD pathogenesis.
Lippincott Williams & Wilkins
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