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How matrix metalloproteinase (MMP)-9 (rs3918242) polymorphism affects MMP-9 serum concentration and associates with autism spectrum disorders: A case-control study in Iranian population

Published online by Cambridge University Press:  01 February 2021

Javid Rezaei Lord ,
Farhad Mashayekhi Open the ORCID record for Farhad Mashayekhi [Opens in a new window]  and
Zivar Salehi
Javid Rezaei Lord*
Affiliation:
Department of Biology, Faculty of Sciences, University of Guilan, Rasht, Guilan, Iran
Farhad Mashayekhi
Affiliation:
Department of Biology, Faculty of Sciences, University of Guilan, Rasht, Guilan, Iran
Zivar Salehi
Affiliation:
Department of Biology, Faculty of Sciences, University of Guilan, Rasht, Guilan, Iran
*
Author for Correspondence: Farhad Mashayekhi, University of Guilan, Rasht, Guilan, Iran; E-mail: [email protected]
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Abstract

The aim of this project was to evaluate the relationship of matrix metalloproteinase-9 (MMP-9) genetic variation and its serum concentration with autism spectrum disorder (ASD). One hundred ASD and 120 controls were enrolled in this study. Genomic DNA was extracted from blood and MMP-9 polymorphism was determined by polymerase chain reaction restriction fragment length polymorphism and serum levels were measured by enzyme-linked immunosorbent assay. The frequencies of CC, CT, and TT genotypes were 72%, 26%, and 2% in controls and 31%, 57%, and 12% in ASD, respectively. The frequencies of C and T alleles in ASD were 59.5% and 40.5%, and controls were 86% and 14%, respectively. There is a significant increase in serum MMP-9 levels in ASD as compared to controls. We have also shown that TT genotype is significantly associated with increase serum MMP-9 levels in patients (TT, CT, and CC serum levels were 91.77 ± 10.53, 70.66 ± 7.21, and 38.66 ± 5.52 and in controls were 55.55 ± 11.39, 42.66 ± 7.85, and 30.55 ± 6.34 ng/ml, respectively). It is concluded that there is a significant association between rs3918242 MMP-9 polymorphism and its serum concentration with autism. We also suggest that TT genotype is associated with increased MMP9 expression and may be a risk factor for ASD.

Keywords

autism spectrum disordersgene polymorphismMMP-9serum
Type
Regular Article
Information
Development and Psychopathology , Volume 34 , Issue 3 , August 2022 , pp. 882 - 888
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Copyright
© The Author(s), 2021. Published by Cambridge University Press

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