S. Faezi, S. Soltani, M. Akbarian, S. Aslani, Elham Hamzeh, Ali Jamshidi, N. Ahmadzadeh, M. Mahmoudi
{"title":"伊朗人群中TYK2 rs34536443多态性与系统性红斑狼疮易感性的关系","authors":"S. Faezi, S. Soltani, M. Akbarian, S. Aslani, Elham Hamzeh, Ali Jamshidi, N. Ahmadzadeh, M. Mahmoudi","doi":"10.22631/RR.2018.69997.1057","DOIUrl":null,"url":null,"abstract":"Systemic lupus erythematous (SLE) is a multifactorial autoimmune disorder which affects many organs and displays various symptoms. Genetic components contribute to the incidence and development of SLE. A rare functional variant within the tyrosine kinase 2 (TYK2) gene (rs34536443) is a common genetic candidate for several autoimmune diseases, including SLE. This case control study was performed to investigate the possible association of TYK2 single nucleotide polymorphism (SNP) with a predisposition for and clinical features of SLE in the Iranian population.Genotyping was conducted on 600 patients with SLE and 600 sex-, age- and ethnicity-matched control subjects from the Iranian population. Patient and control samples were genotyped for one SNP (rs34536443) by applying allelic discrimination real-time PCR.Statistical analysis of the allele distribution revealed no significant association (OR = 0.67, CI: 0.38-1.17, P value = 0.163) between the rs34536443 C allele and susceptibility to SLE. The CC genotype was not detected in either the patients or controls. Moreover, the CG genotypes showed no significant association with the risk of SLE (OR = 0.66, CI: 0.37-1.72, P value = 0.15).These findings suggest that TYK2 rs34536443 is not associated with SLE susceptibility in the Iranian population. Further investigation is required to examine the mechanisms by which polymorphisms in this gene lead to SLE development.","PeriodicalId":87314,"journal":{"name":"Journal of rheumatology research","volume":"58 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"4","resultStr":"{\"title\":\"Association of TYK2 rs34536443 polymorphism with Susceptibility to Systemic Lupus Erythematous in the Iranian Population\",\"authors\":\"S. Faezi, S. Soltani, M. Akbarian, S. Aslani, Elham Hamzeh, Ali Jamshidi, N. Ahmadzadeh, M. Mahmoudi\",\"doi\":\"10.22631/RR.2018.69997.1057\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Systemic lupus erythematous (SLE) is a multifactorial autoimmune disorder which affects many organs and displays various symptoms. Genetic components contribute to the incidence and development of SLE. A rare functional variant within the tyrosine kinase 2 (TYK2) gene (rs34536443) is a common genetic candidate for several autoimmune diseases, including SLE. This case control study was performed to investigate the possible association of TYK2 single nucleotide polymorphism (SNP) with a predisposition for and clinical features of SLE in the Iranian population.Genotyping was conducted on 600 patients with SLE and 600 sex-, age- and ethnicity-matched control subjects from the Iranian population. Patient and control samples were genotyped for one SNP (rs34536443) by applying allelic discrimination real-time PCR.Statistical analysis of the allele distribution revealed no significant association (OR = 0.67, CI: 0.38-1.17, P value = 0.163) between the rs34536443 C allele and susceptibility to SLE. The CC genotype was not detected in either the patients or controls. Moreover, the CG genotypes showed no significant association with the risk of SLE (OR = 0.66, CI: 0.37-1.72, P value = 0.15).These findings suggest that TYK2 rs34536443 is not associated with SLE susceptibility in the Iranian population. Further investigation is required to examine the mechanisms by which polymorphisms in this gene lead to SLE development.\",\"PeriodicalId\":87314,\"journal\":{\"name\":\"Journal of rheumatology research\",\"volume\":\"58 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of rheumatology research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.22631/RR.2018.69997.1057\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of rheumatology research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.22631/RR.2018.69997.1057","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Association of TYK2 rs34536443 polymorphism with Susceptibility to Systemic Lupus Erythematous in the Iranian Population
Systemic lupus erythematous (SLE) is a multifactorial autoimmune disorder which affects many organs and displays various symptoms. Genetic components contribute to the incidence and development of SLE. A rare functional variant within the tyrosine kinase 2 (TYK2) gene (rs34536443) is a common genetic candidate for several autoimmune diseases, including SLE. This case control study was performed to investigate the possible association of TYK2 single nucleotide polymorphism (SNP) with a predisposition for and clinical features of SLE in the Iranian population.Genotyping was conducted on 600 patients with SLE and 600 sex-, age- and ethnicity-matched control subjects from the Iranian population. Patient and control samples were genotyped for one SNP (rs34536443) by applying allelic discrimination real-time PCR.Statistical analysis of the allele distribution revealed no significant association (OR = 0.67, CI: 0.38-1.17, P value = 0.163) between the rs34536443 C allele and susceptibility to SLE. The CC genotype was not detected in either the patients or controls. Moreover, the CG genotypes showed no significant association with the risk of SLE (OR = 0.66, CI: 0.37-1.72, P value = 0.15).These findings suggest that TYK2 rs34536443 is not associated with SLE susceptibility in the Iranian population. Further investigation is required to examine the mechanisms by which polymorphisms in this gene lead to SLE development.