Homozygous-recessive characteristics (HRCs) and biochemical parameters as biomarkers - PowerPoint Presentation

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Homozygous-recessive characteristics (HRCs) and biochemical parameters as biomarkers of cardiovascular disease risk

Darko Grujičić

1*

,

Ljiljana Mirkov

2

, Kristina Virijević

1

, Nikola Pivljaković

1

,

Dragoslav Marinković

3

, Olivera Milošević-Djordjević 1,4 1University of Kragujevac, Faculty of Science, Department of Biology and Ecology, Kragujevac, Serbia2 Health Care Center, Kragujevac, Serbia3 Serbian Academy of Sciences and Arts, Belgrade, Serbia4 University of Kragujevac, Serbia, Faculty of Medical Sciences, Department of Genetics, Kragujevac, Serbia*Corresponding author, E-mail: darko@kg.ac.rs

Abstract

Cardiovascular diseases (CVD) are a leading cause of death globally. The aim of our study was to analyse homozygous-recessive characteristics (HRCs) and some biochemical parameters such as concentration of glucose, cholesterol, triglyceride in blood in the group of CVD patients and in the control sample, as well as to evaluate whether there is a predisposition to the occurrence of CVD, when these biomarkers are concerned. This study analysed presence, distribution, and individual variability of 20 selected genetically controlled morphophysiological traits among 90 CVD patients (45 males and 45 females), average age 62.80 ± 10.20 and 90 healthy controls (45 males and 45 females), average age 50.39 ± 9.17. Our results showed a significant difference in the individual variation of HRCs between the patients and controls (χ²=315.34; p < 0.0001). Statistically significant differences were found in the frequency of 9 out of 20 analyzed HRCs. The average value of HRCs in group patients was significantly higher, comparing to the control sample (6.37 ± 1.71 vs. 4.97 ± 1.68; p < 0.001), while variability decreases compared to the control sample (V

CVD

= 0.27%; V

C

= 0.34%). There is not a statistical difference in the HRC between males and females in analyzed samples. In the group of CVD patients

,

the frequency of HRCs for males was 6.56 ± 1.69, while for females, it was 6.18 ± 1.74. In controls the frequency of HRCs for males was 5.02 ± 1.74, and for females it was 4.91 ± 1.64. This study showed difference in the type of distribution HRCs; in the CVD patients’ the most were with 5 to 8/20, while in control sample were with 3 to 6/20 recessive traits. Regarding biochemical parameters, our results showed a significantly higher concentration of glucose and triglycerides in the blood the CVD patients compared to control sample (t=3.14, p < 0.001; t=4.20; p < 0.0001). The distribution of ABO blood type frequencies between tested samples showed that in both samples the most present is A blood type, but significantly more present in the sample of CVD patients (51.1% vs. 37.2%). The results of multiple linear regression analysis of tested variables (gender, smoking, glucose, cholesterol, triglyceride, HRCs) showed that only HRCs and triglyceride concentration have a significant impact on the onset of the CVDs. Our conclusion is that the increased degree of recessive homozygosity and decreased variability homozygous-recessive characteristics of CVD patients versus controls, regardless of the gender, indicates a potential genetic predisposition for CVD, including biochemical parameters such as elevated concentration triglycerides can significantly contribute to the development of this predisposition.

Cardiovascular diseases (CVD) are a leading cause of death globally.

The aim of our study was to

analyse

homozygous-recessive characteristics (HRCs) and some biochemical parameters such as concentration of glucose, cholesterol, triglyceride in blood in the group of CVD patients and in the control sample, as well as to evaluate whether there is a predisposition to the occurrence of CVD, when these biomarkers are concerned.

This study

analysed presence, distribution, and individual variability of 20 selected genetically controlled morphophysiological traits among 90 CVD patients (45 males and 45 females), average age 62.80 ± 10.20 and 90 healthy controls (45 males and 45 females), average age 50.39 ± 9.17.

N

o.

Homozygous-recessive characteristics

C sample;

N =

9

0

m

f

Total (%)CVD sample; N = 90

m f Total (%)

χ²

1.

Blond hair

8

4

12

(13

.

33%)

7

13

20 (22.22%)

5.33

2.

Continuous frontal hairline

12

22

34 (37.78%)

18

16

34 (37.78%)

0.00

3.

Straight hair

37

28

65 (72.22%)372966 (73.33%)0.024.Double hair whorl131023 (25.56%)162238 (42.22%)9.785Blue eyes 15924 (26.67%)171431 (34.44%)2.046.Attached ear lobe 111728 (31.11%)14822 (24.44%)1.297.Ear without Darwinian notch111829 (32.22%)171330 (33.33%)0.038.Inability to Longitudinally Tongue Roll 151227 (30.00%)252954 (60.00%)27.009.Guttural “r”022 (2.22%)8513 (14.44%)60.510.Daltonisms101 (1.11%)303 (3.33%)4.0011.Right thumb over left thumb (hand clasping)231942 (46.67%)252348 (53.33%)0.8612.Top joint of the thumb >45o121527 (30.00%)181230 (33.33%)0.3313.Left-handedness404 (4.44%)123 (3.33%)0.2514.Digital index: finger longer (men) i.e shorter (women) than the ring finger 161026 (28.89%)122234 (35.56%)2.4615.Mid-phalangeal hair absence16723 (25.56%)121830 (33.33%)2.1316.Soft hair172946 (51.11%)293160 (66.67%)4.2617.Retraction of anterior teeth224 (4.44%)8614 (15.56%)25.0018.Retracted chin71118 (20.00%)141428 (31.11%)5.5619.Proximal thumb hyperextensibility 5510 (11.11%)325 (5.56%)2.5020.Inability to transversally Tongue Roll 112 (2.22%)11920 (22.22%)162.00 χ²=315.34; df=19; р <0.001

Table 1. Frequency of HRCs among control (C) and cardiovascular (CVD) patients (m-men; f-female)

No. of persons

HRCs index

(

Х ± SD)Variability (V)(%)Student’s t- testРCm45

5.02±1.740.35t HRC Cм/Cf =0.31;

df=88> 0.05Cf454.91±1.64

0.33C Total 904.97±1.680.34CVDm456.56±1.690.26t HRC CVDм/

CVDf=1.05; df=88> 0.05 CVDf456.18±1.740.28CVD Total 906.37±1.710.27t HRC C/CVD = 5.54 ;df= 178< 0.001

Table 2. Average values of HRCs in the group of patients with CVD and the control

Number of

HRC

s per personControl sample N = 90 m f TotalCVD patients N = 90 m f Total1.

1/1//

/2. 112

/113.710171234.99

1846105.1171886146.6121898

177.549911208.5/5108189./2213410.///3/3

Table 3. Distribution of HRCs in the group of patients with CVD and in control samplem- male; f- female

Figure 1.

Distribution of HRC

s

in the group of patients with CVD and control sample

1-10/20

Glucose

(Х ± SD)

Cholesterol (Х ± SD)

Triglycerides(Х ± SD)

Cm

5.36±1.005.12±0.951.24±0.36Cf

5.54±0.955.48±1.061.25±0.68 Cm+f 5.45±0.98

5.29±1.011.22±0.55CVDm6.12±1.835.26±1.621.64±0.77CVDf5.66±0.845.65±1.271.66±0.86

CVDm+f 5.88±1.43**5.45±1.461.65±0.81***Table 4. Average values of biochemical parameters among CVD patients and controls

t

CVD/C glucose

=3.14, p < 0.01;

t

CVD/C triglycerides =4.20; p < 0.0001

A

B

ABORh+Rh- Cm1784

14394Cf1511

611367C Total 32 (37.2%)

19 (22.1%)10 (11.6%)25 (29.1%)75 (87.2%)11 (12.8%)CVDm255510423CVDf

204217395CVD Total 45 (51.1%)9 (10.0%)7 (8.0%)17 (31%)81 (91.0%)8 (9.0%) Table 5. Frequencies of ABO blood types and Rh among CVD patients and controls

Coefficients

a

Model

Unstandardized Coefficients

Standardized Coefficients

t

Sig.

95.0% Confidence Interval for B

B

Std. Error

Beta

Lower Bound

Upper Bound

1

(Constant)

2.429

.329

7.385

.000

1.778

3.079

sex

.034

.078

.034

.432

.667

-.121

.189

smoking

.010

.049

.016

.199

.842

-.088

.108

HRC

-.105

.021

-.384

-4.969

.000-.147-.063Glucose-.075.040-.147-1.862.065-.154.005Cholesterol.015.034.038

.447

.656

-.053

.083

Triglycerides

-.135

.061

-.191

-2.222

.028

-.255

-.015

ABO

.025

.030

.064

.837

.404

-.034

.084

R

h

.076

.123

.048

.621

.536

-.167

.320

a. Dependent Variable: sample

Table 6. The results of multiple linear regression analysis

of tested variable

Conclusion

s

Based our results we demonstrated that:

1. Increased degree of recessive homozygosity was observed for tested homozygous-recessive characteristics in CVD patients compared with healthy persons, regardless of gender.2. There is a reduced variability of the examined HRCs in CVD patients compared to healthy persons, regardless of gender. These findings indicate a potential genetic predisposition to CVD.3. Of all tested biochemical parameters (glucose, cholesterol, triglycerides), only elevated concentration triglycerides can significantly contribute to the development of this predisposition.