<abstract xmlns="http://www.w3.org/1999/xhtml">

<sec><h3>Background</h3>
<p>Several investigations have demonstrated the association of <italic>MTSS1</italic> with left ventricular (LV) structure and function. A recently published study has even revealed that rs35006907 was associated with both <italic>MTSS1</italic> expression and the risk of dilated cardiomyopathy (DCM).</p>
</sec>
<sec><h3>Objective</h3>
<p>Our study intended to investigate the relationship between rs35006907 and the risk of DCM in the Han Chinese population.</p>
</sec>
<sec><h3>Methods</h3>
<p>A total of 529 DCM and 600 healthy controls were recruited. We conducted genotyping for rs35006907 in all participants. Gene association studies were performed to assess the association between rs35006907 and the risk of DCM. A series of functional assays including western blot, realtime PCR and firefly luciferase reporter gene assays were conducted to illuminate the underlying mechanism.</p>
</sec>
<sec><h3>Results</h3>
<p>We found that rs35006907-A allele was significantly associated with reduced risk of DCM in additive (p= 0.004; OR=0.78; 95% CI=0.66–0.93) and recessive models (p= 0.0005; OR=0.56; 95%CI=0.41–0.78) when compared with the rs35006907-C allele. There were significant differences in the left ventricular end-diastolic diameter (LVEDD) and left ventricular ejection fraction (LVEF) between rs35006907-CC/AC and AA genotypes. Furthermore, the variant rs35006907-A allele presented lower reporter gene activity, reduced mRNA and protein expression levels when compared with the C allele.</p>
</sec>
<sec><h3>Conclusions</h3>
<p>Our findings demonstrated that rs35006907-C allele increased the risk of DCM in Han Chinese population. Besides, rs35006907-C displayed higher reporter gene activity and increased <italic>MTSS1</italic> expression in human samples.</p>
</sec>
</abstract>

Background
Several investigations have demonstrated the association of MTSS1 with left ventricular (LV) structure and function. A recently published study has even revealed that rs35006907 was associated with both MTSS1 expression and the risk of dilated cardiomyopathy (DCM).

Objective
Our study intended to investigate the relationship between rs35006907 and the risk of DCM in the Han Chinese population.

Methods
A total of 529 DCM and 600 healthy controls were recruited. We conducted genotyping for rs35006907 in all participants. Gene association studies were performed to assess the association between rs35006907 and the risk of DCM. A series of functional assays including western blot, realtime PCR and firefly luciferase reporter gene assays were conducted to illuminate the underlying mechanism.

Results
We found that rs35006907-A allele was significantly associated with reduced risk of DCM in additive (p= 0.004; OR=0.78; 95% CI=0.66–0.93) and recessive models (p= 0.0005; OR=0.56; 95%CI=0.41–0.78) when compared with the rs35006907-C allele. There were significant differences in the left ventricular end-diastolic diameter (LVEDD) and left ventricular ejection fraction (LVEF) between rs35006907-CC/AC and AA genotypes. Furthermore, the variant rs35006907-A allele presented lower reporter gene activity, reduced mRNA and protein expression levels when compared with the C allele.

Conclusions
Our findings demonstrated that rs35006907-C allele increased the risk of DCM in Han Chinese population. Besides, rs35006907-C displayed higher reporter gene activity and increased MTSS1 expression in human samples.

Association of rs35006907 Polymorphism with Risk of Dilated Cardiomyopathy in Han Chinese Population

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Background
Several investigations have demonstrated the association of MTSS1 with left ventricular (LV) structure and function. A recently published study has...

SNP	Function	Population	MAF	Genotype			Model	P-Value	OR (95%CI)
				CC	CA	AA	Additive	0.004	0.78 (0.66–0.93)
rs35006907	Enhancer	Control	0.44	194	280	126	Dominant	0.16	0.84 (0.66–1.07)
C>A	Enhancer	DCM	0.38	192	268	69	Recessive	0.0005	0.56 (0.41–0.78)

Variable	DCM (n=529)	Control (n=600)	P Value
Age	56.6±10.5	55.8±9.6	0.15
Gender (males/females)	175/354	210/390	0.5
SBP (mmHg)	123±28	126±26	0.054
DBP (mmHg)	82±11	81±13	0.09
IVSD (mm), mean±SD	9.7±1.7	9.8±2.6	0.3
LVEDD (mm), mean±SD	65.3±8.4	46.04.2	<0.001
LVPWD (mm), mean±SD	9.6±1.4	9.2±1.6	<0.001
LVEF (%)	35.1±12.5	61.5±7.7	<0.001

Association of rs35006907 Polymorphism with Risk of Dilated Cardiomyopathy in Han Chinese Population

Article Category: Original Article

Published Online: Jul 31, 2023

Page range: 27 - 34

DOI: https://doi.org/10.2478/bjmg-2023-0004

Keywords
Dilated cardiomyopathy, risk, genetic polymorphism, rs35006907

© 2023 C Yang et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1.

Figure 2.

Association of rs35006907 with DCM.

Baseline characteristics of population

Association of rs35006907 Polymorphism with Risk of Dilated Cardiomyopathy in Han Chinese Population

Article Category: Original Article

Published Online: Jul 31, 2023

Page range: 27 - 34

DOI: https://doi.org/10.2478/bjmg-2023-0004

KeywordsDilated cardiomyopathy, risk, genetic polymorphism, rs35006907

© 2023 C Yang et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1.

Figure 2.

Association of rs35006907 with DCM.

Baseline characteristics of population

Keywords
Dilated cardiomyopathy, risk, genetic polymorphism, rs35006907