Τίτλος:
TREX1 variants in Sjogren's syndrome related lymphomagenesis
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Genetic variants of the three-prime repair exonuclease 1 (TREX1) -an exonuclease involved in DNA repair and degradation- have been previously found to increase susceptibility to Aicardi Goutieres syndrome, familial chilblain lupus and systemic lupus erythematosus. We aimed to explore whether TREX1 common variants could influence the risk of primary Sjogren's syndrome (SS) and SS-related lymphoma. Three single nucleotide polymorphisms (SNPs) of the TREX1 gene (rs11797, rs3135941 and rs3135945) were evaluated in 229 SS, 89 SS-lymphoma (70 SS-MALT and 19 SS non-MALT) and 240 healthy controls by PCR-based assays. In available 52 peripheral blood and 26 minor salivary gland tissues from our SS cohort, mRNA expression of type I interferon (IFN) related genes and TREX1 was determined by real-time PCR. Significantly decreased prevalence of rs11797 A minor allele was detected in SS patients complicated by non-MALT lymphoma compared to controls (ΟR [95% CI]: 0.4 [0.2–0.9], p-value: 0.02). SS patients carrying the rs11797 AA genotype had increased type I IFN related gene mRNA expression in minor salivary gland tissues. These data support genetically related dampened type I IFN production as an additional mechanism for SS-related lymphomagenesis. © 2019
Συγγραφείς:
Nezos, A.
Makri, P.
Gandolfo, S.
De Vita, S.
Voulgarelis, M.
Crow, M.K.
Mavragani, C.P.
Εκδότης:
INSTAP Academic Press
Λέξεις-κλειδιά:
adult; Article; cancer risk; cancer susceptibility; carcinogenesis; case control study; controlled study; disease association; female; gene; gene expression; genetic association; genetic risk; genetic susceptibility; human; lymphoma; major clinical study; male; priority journal; single nucleotide polymorphism; Sjoegren syndrome; TREX1 gene; aged; complication; enzymology; gene frequency; genetics; genotype; lymphoma; marginal zone lymphoma; metabolism; middle aged; physiology; salivary gland; single nucleotide polymorphism; Sjoegren syndrome, exodeoxyribonuclease; interferon; messenger RNA; phosphoprotein; three prime repair exonuclease 1, Aged; Case-Control Studies; Exodeoxyribonucleases; Female; Gene Frequency; Genotype; Humans; Interferon Type I; Lymphoma; Lymphoma, B-Cell, Marginal Zone; Male; Middle Aged; Phosphoproteins; Polymorphism, Single Nucleotide; RNA, Messenger; Salivary Glands; Sjogren's Syndrome
DOI:
10.1016/j.cyto.2019.154781
