Open AccessGenetic variants rs1994016 and rs3825807 in ADAMTS7 affect its mRNA expression in atherosclerotic occlusive peripheral arterial disease
Author(s) -
Bayoglu Burcu,
Arslan Caner,
Tel Cigdem,
Ulutin Turgut,
Dirican Ahmet,
Deser Serkan Burc,
Cengiz Mujgan
Publication year - 2018
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.22174
Subject(s) - adamts , peripheral blood mononuclear cell , single nucleotide polymorphism , snp , genotype , thrombospondin , reverse transcriptase , reverse transcription polymerase chain reaction , metalloproteinase , medicine , western blot , messenger rna , immunology , matrix metalloproteinase , microbiology and biotechnology , biology , pathology , polymerase chain reaction , gene , in vitro , genetics
Aim Peripheral artery disease ( PAD ) is a vascular disease affecting peripheral circulation. Recently, genome‐wide association studies revealed a relationship between single nucleotide polymorphisms ( SNP s) in ADAMTS 7 (a disintegrin and metalloprotease with thrombospondin motif 7) and atherosclerosis. In this study, we aimed to determine ADAMTS 7 expression in peripheral blood mononuclear cells ( PBMC s) and the frequency of ADAMTS 7 rs1994016 and rs3825807 polymorphisms in a sample of Turkish patients with PAD , and to evaluate the association of matrix metalloproteinase ( MMP ) levels with PAD development. Methods In this case – control study, ADAMTS 7 mRNA and protein expression was determined using reverse transcription quantitative real‐time polymerase chain reaction ( RT ‐ qPCR ) and western blot, respectively, and rs1994016 and rs3825807 variants in ADAMTS 7 were determined by real‐time PCR in 115 PAD patients and 116 healthy controls. Plasma levels of nine MMP s were determined using a multiplex immunoassay system. Results ADAMTS 7 mRNA levels were significantly higher in PAD patients than in controls ( t =−2.75, P =.007). There was no significant difference in the frequencies of rs1994016 and rs3825807 between PAD patients and controls ( P >.05). In PAD patients, ADAMTS 7 mRNA levels were significantly increased for the CC genotype of rs1994016 ( t =−2.31, P =.026) and TT genotype of rs3825807 ( t =−2.23, P =.032). Furthermore, plasma levels of MMP ‐1, MMP ‐3, MMP ‐7, MMP ‐10, MMP ‐12, and MMP ‐13 were significantly higher in PAD patients than in controls ( P <.05). Conclusion This is the first report of the relationship between PAD and ADAMTS 7 expression and the effects of the rs1994016 and rs3825807 variants on PAD development. ADAMTS 7 may be associated with PAD development.