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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RESULTS
Clinical characteristics of participants
As shown in Table 1, a total of 529 DCM and 600
healthy controls were matched by age with mean age of
56.6±10.5 and 55.8±9.6, respectively. There were no statistical
differences between DCM and the control group in
age (p=0.15), gender (p=0.5), SBP (p= 0.054), DBP (p=
0.09) or IVSD (p=0.3) between DCM and control groups.
Compared with controls, the LVEDD and LVPWD were
significantly higher in DCM group, while the LVEF was
clearly lower.
Association between rs35006907 and risk of DCM
The genotype distribution was in HWE in both groups
(χ2 =2.7, p = 0.1 in DCM group; χ2 =1.8, p = 0.18 in controls).
As shown in Table 2, the frequency of A allele among
DCM group was remarkably lower compared with controls
(38% vs 44%). The results showed that rs35006907-A allele
is significantly associated with reduced risk of DCM
in additive (p= 0.004; OR=0.78; 95% CI=0.66–0.93) and
recessive model (p=0.0005; OR=0.56; 95%CI=0.41-0.78)
when compared with rs35006907-C allele.
Correlation between rs35006907
and clinical characteristics
We attempted to explore the relationship between
rs35006907 and clinical characteristics in DCM patients.
As shown in Figure 1, patients carrying AA genotype
displayed reduced LVEDD and increased LVEF when
compared with CC (p=0.0001 for LVEDD and p<0.0001
for LVEF) and AC (p=0.003 for LVEDD and p=0.03 for
LVEF) genotype. While no differences were observed
in IVSD and LVPWD between different genotypes of
rs35006907.
Functional Analysis
Firstly, we attempted to compare the MTSS1 expression
among 3 genotypes of rs35006907 using human heart
samples. The results indicated that MTSS1 mRNA level of
CC genotype showed significantly higher than AC genotype
(p=0.0028) and AA genotype (p=0.0034) (shown in
Figure 2A). The difference between AC and AA genotypes
had no statistical significance but showed a trend, probably
owing to the limited samples. Furthermore, western
blot results also demonstrated that CC genotype displayed
increased protein expression when compared with the AC
and AA genotypes (shown in Figure 2B).
Subsequently, we investigated the effect of rs35006907
on MTSS1 expression in lymphocytes including 126 samples
(33 CC genotype, 71 AC and 22 AA genotype). As
shown in Figure 2C, MTSS1 mRNA of participants with the
CC genotype were significantly higher than AC genotype
(p<0.0001) and AA genotype (p<0.0001). Similarly, the
difference between the AC and AA genotypes was also
statistically significant (p=0.005).
Finally, we transfected AC16 and 293T cells with reporter
plasmids and found that the reporter gene expression
of rs35006907-C allele was significantly increased compared
with the rs35006907-A allele (shown in Figure 2D).
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