<b><i>MMP9</i></b> rs17576 Is Simultaneously Correlated with Symptomatic Intracranial Atherosclerotic Stenosis and White Matter Hyperintensities in Chinese Population

Abstract

&lt;b&gt;&lt;i&gt;Purpose:&lt;/i&gt;&lt;/b&gt; The aim of this study was screening for single nucleotide polymorphisms (SNPs) associated with white matter hyperintensities (WMHs) in symptomatic intracranial atherosclerotic stenosis (sICAS) patients and exploring a possible connection in the genetic background between macrovascular disease and small vessel disease. &lt;b&gt;&lt;i&gt;Methods:&lt;/i&gt;&lt;/b&gt; There were 400 sICAS patients enrolled in the study. Fazekas scores were applied to WMH classification. Healthy controls were referred to 1,000 Genome Project and GeneSky company who provided 1,007 Chinese healthy controls. Fast target sequencing technology was used to select the SNPs of 102 genes related to the pathogenesis of sICAS in the sICAS patients. &lt;b&gt;&lt;i&gt;Results:&lt;/i&gt;&lt;/b&gt; The allele frequencies of 88 SNPs were significantly different between the sICAS group and the healthy controls (&lt;i&gt;p&lt;/i&gt; &amp;#x3c; 0.05). The allele frequencies of 53 SNPs were significantly different between the sICAS patients with and without WMHs (&lt;i&gt;p&lt;/i&gt; &amp;#x3c; 0.05). Further analysis found that matrix metalloproteinase 9 (&lt;i&gt;MMP9&lt;/i&gt;) rs17576 was simultaneously related to sICAS and WMHs. The frequency of the rs17576 A allele was significantly lower in sICAS patients when compared to the normal controls (&lt;i&gt;p&lt;/i&gt; = 0.03, OR [95% CI] = 0.75 [0.625–0.91]). Also, the frequency of the rs17576 genotypes was significantly different under codominant (&lt;i&gt;p&lt;/i&gt; = 0.009), dominant (&lt;i&gt;p&lt;/i&gt; = 0.014), and recessive (&lt;i&gt;p&lt;/i&gt;= 0.023) models. The frequency of the rs17576 A allele was significantly higher in sICAS with WMH patients, compared to those without WMHs (&lt;i&gt;p&lt;/i&gt; = 0.022, OR [95% CI] = 1.54 [1.06–2.22]); the frequency of the rs17576 genotypes was significantly different under codominant (&lt;i&gt;p&lt;/i&gt; = 0.019) and recessive (&lt;i&gt;p&lt;/i&gt; = 0.032) models. Logistic regression analysis showed that age, hypertension, and &lt;i&gt;MMP9&lt;/i&gt; rs17576 AA genotype were independent risk factors for sICAS with WMHs. &lt;b&gt;&lt;i&gt;Conclusion:&lt;/i&gt;&lt;/b&gt; &lt;i&gt;MMP9&lt;/i&gt; rs17576 may be simultaneously associated with the risk of sICAS and WMHs.

Chronic Cadmium Exposure and Genetic Polymorphisms of MMP-2 and MMP-9 in a Population Exposed to Steel Slag in the State of Rio de Janeiro, Brazil: A Cross-Sectional Study

“…It was also possible to determine the genotypic and allelic frequencies of the three MMP SNPs, with high rate of successful genotyping and within the HWE. All minor allele frequencies were in accordance with previous studies [ 18 , 36 , 37 , 38 , 39 , 40 , 41 ]. The MMP-9 rs17576G allele frequency is 30.1% in the Chinese population (N = 1007) [ 40 ], 37.1% in the Romanian population (N = 197) [ 39 ], 21% in the Egyptian population (N = 100) [ 37 ], 36.1% in the Russian population (N = 347) [ 41 ] and 36.2% in the Slovenian population (N = 161) [ 38 ].…”

“…All minor allele frequencies were in accordance with previous studies [ 18 , 36 , 37 , 38 , 39 , 40 , 41 ]. The MMP-9 rs17576G allele frequency is 30.1% in the Chinese population (N = 1007) [ 40 ], 37.1% in the Romanian population (N = 197) [ 39 ], 21% in the Egyptian population (N = 100) [ 37 ], 36.1% in the Russian population (N = 347) [ 41 ] and 36.2% in the Slovenian population (N = 161) [ 38 ]. For the MMP-2 rs7201C allele, the frequency is 24.6% in the Chinese population (N = 497) [ 18 ], 41.3% in the Slovenian population (N = 161) [ 38 ] and 45.4% in the German population (N = 143) [ 36 ].…”

Gut-Derived Metabolite Phenylacetylglutamine and White Matter Hyperintensities in Patients With Acute Ischemic Stroke

“…We assessed demographic characteristics and medical history, including age, sex, vascular risk factors [i.e., hypertension, diabetes mellitus, dyslipidemia, coronary heart disease (CAD), smoking, and drinking], based on the definitions previously described in detail (Feng et al, 2021). Complete blood count, liver and kidney function, blood glucose, homocysteine, and serum lipids were determined from overnight fasting venous blood samples from each participant on the second day of admission.…”

MMP9 SNP and MMP SNP–SNP interactions increase the risk for ischemic stroke in the Han Hakka population

“…Additionally, Xianjing Feng et al. reveled MMP‐9 rs17576 may be associated with the risk of intracranial atherosclerotic stenosis (Feng et al., 2021 ). Nevertheless, Alexey Polonikov et al.…”