ASSOCIATION OF RS35006907 POLYMORPHISM WITH RISK OF DILATED ARDIOMYOPATHY IN HAN CHINESE POPULATION
Yang C, Chen F, Li Sh, Zeng X,Wang Sh, Lan J
*Corresponding Author: Jianjun Lan, Panzhihua Central Hospital, Panzhihua 34# Yi kang Ave., Panzhihua 617000, People’s Rep. of China; Email: pzhzxyyxnkljj@sina.com
page: 27
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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.
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