Balkan Journal of Medical Genetics

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

INTRODUCTION

Characterized by ventricular dilatation and diminished contraction, dilated cardiomyopathy (DCM) is the leading cause of chronic heart failure with high mortality worldwide [1]. The prevalence of DCM ranges from 1/2500 to 1/250 people and the cause of DCM is multifactorial, among which hereditary factors play an important role [2, 3]. More than 100 DCM-related genes have been reported, but only a handful of these have been definitively linked to human disease, including genes encoding cytoskeletal, sarcomere and nuclear envelope proteins [4, 5]. Approximately 40% of DCM cases could be explained by rare variants in cardiomyopathy-related genes, which represents the current research priority [6]. Recently, the role of common variants in DCM has been widely investigated, which could explain a portion of DCM cases without the known DCM gene variants [3, 7, 8]. MTSS1, located on human chromosome 8q24.13, is highly expressed in testis, esophagus, spleen and peripheral blood [9]. Consistent with its tissue distribution, MTSS1 was identified involved in many cancers, including bladder uroepithelium cell carcinoma [10], acute myeloid leukemia [11], gastric cancer [12], colorectal cancer [13] and esophageal cancer [14], among which MTSS1 always acts as a cancer suppressor. Accumulating evidence have indicated that MTSS1 was a scaffold protein and could regulate actin dynamics by interacting with many partners. An actin monomer-binding site was identified to reside in the WH2 domain of MTSS1 [15], which confirmed the association of MTSS1 with cytoskeletal dynamics. Genetic variants in MTSS1 might lead to structural changes of the heart and eventually DCM by destroying the cytoskeletal dynamics. Recently, a Genome-Wide Association Study (GWAS) conducted by Nay et al. has revealed that rs200712209 and rs34866937 in MTSS1 were associated with left ventricular end-systolic volume (LVESV) and left ventricular ejection fraction (LVEF), respectively [16]. Charlotte et al. have also demonstrated the association between MTSS1 and LV systolic function using robust rank aggregation [17]. Importantly, MTSS1 knockout mice displayed reduced LV end-diastolic dimension and LV end-systolic dimension, as well as trends towards increased LV fractional shortening, when compared with wild-type mice. In the end, rs35006907 was demonstrated as the causal variant that links the expression level of MTSS1 to LV systolic function [18]. Considering the importance of MTSS1 in the heart, we attempt to investigate the association between rs35006907 and DCM among a small population of the Han Chinese and elucidate the underlying mechanisms.

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