title: Polymorphisms in NLRP1 gene and susceptibility to autoimmune thyroid disease.
abstract: The autoimmune thyroid disorders, or AITDs, comprise 2 related disorders, Graves' disease and Hashimoto thyroiditis. In AITD, immune system produces antibodies against autothyroid antigens. The etiology of AITDs involves a complex interaction between genetic predisposing factors and environmental triggering factors. Variations in NACHT leucine-rich repeat protein 1(NLRP1) gene a key regulator of the innate immunity have been shown to confer risk for vitiligo and several autoimmune diseases. In this study we hypothesize that variants in NLRP1 gene might be involved in the susceptibility to autoimmune thyroid disease. Five single nucleotide polymorphisms (SNPs) in NLRP1 were genotyped in 207 AITD patients and 220 normal controls. We found that NLRP1 rs12150220 T allele (OR = 1.273, 95% CI: 0.971-1.670, p = 0.040) and NLRP1 rs2670660 G allele (OR = 1.264, 95% CI: 0.965-1.656, p = 0.044) were significantly associated with AITD compared with controls. These results suggest that NLRP1 may be involved in the pathogenesis of AITD.
authors: Department of Genetics and Biotechnology, Jordan University of Science and Technology, Irbid, Jordan. asemalkhateeb@just.edu.jo
authors: Asem
authors: A
authors: Alkhateeb
authors: Yousef
authors: Y
authors: Jarun
authors: Reema
authors: R
authors: Tashtoush
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006111:Graves Disease / Q000235:genetics*; D006239:Haplotypes; D050031:Hashimoto Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D000070576:NLR Proteins; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D013961:Thyroid Gland / Q000276:immunology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D051017:Apoptosis Regulatory Proteins; D000070576:NLR Proteins; C427903:NLRP1 protein, human