Morphogenetic variability and genetic loads among patients with different expression of developmental hip dysplasia

Milasinovic, Sonja; Cvjetićanin, Suzana; Brdar, Radivoj; Nikolić, Dejan

doi:10.2298/gensr1703035m

Cited by 5 publications

(14 citation statements)

References 15 publications

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“…There are several possible explanations for the established differences in recessive homozygosity degree among different groups of affected individuals and the control [12,13,15,29,31]:…”

Section: Discussionmentioning

confidence: 99%

“…For the estimation of the degree of genetic homozygosity, we tested the presence of 15 homozygous recessive characteristics (HRC) using the HRC-test [11]. The HRC-test [11][12][13][14][15][16] has been applied to determine the proportion of such clearly expressed characteristics in every individual as markers of different chromosomes.…”

Section: Study Parametersmentioning

confidence: 99%

“…The recessive homozygosity amount that is established by performed HRC-test is practically an estimation of genetic loads present in any specific sample of humans. Our numerous studies considering the HRC-test showed the reliability of this methodology in determining eventual changes and differences in certain subpopulation groups [11][12][13][14][15][16].…”

Section: Introductionmentioning

confidence: 99%

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Morphogenetic Variability as Potential Biomarker of Neurogenic Lesion Degree in Children with Spina Bifida

et al. 2020

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Aims. In this study we analyzed the degree of genetic homozygosity among spina bifida patients with different degrees of neurogenic lesion (N = 82), as well as their clinical and neurological characteristics, compared to healthy control individuals (N = 100). Methods. According to clinical and electromyographic findings, we separately assessed the type of neurogenic lesion (paresis or paralysis). Regarding the degree of neurogenic lesion, patients were classified into three groups: mild, moderate and severe. We analyzed six muscles. For assessing the degree of individual genetic homozygosity, we tested the presence and distribution of 15 homozygous recessive characteristics (HRC). Results. The predominant type of neurogenic lesion was paresis. Every third evaluated muscle was affected in the group with mild neurogenic lesion, while more than half were affected in the group with severe neurogenic lesion. The average values of HRCs among different groups of patients and the control showed the population-genetic differences that exist among them (control x ¯ HRC/15 = 3.0 ± 0.2; mild x ¯ HRC/15 = 3.6 ± 0.2; moderate x ¯ HRC/15 = 4.8 ± 0.3; severe neurogenic lesion x ¯ HRC/15 = 5.0 ± 0.3). Conclusions. Spina bifida patients have a significant increase of recessive homozygosity and a decreased variability compared to the control group. As neurogenic lesions are more severe, more affected muscles are present, as well as the increase of individual recessive homozygosity.

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“…There are several possible explanations for the established differences in recessive homozygosity degree among different groups of affected individuals and the control [12,13,15,29,31]:…”

Section: Discussionmentioning

confidence: 99%

Section: Study Parametersmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Morphogenetic Variability as Potential Biomarker of Neurogenic Lesion Degree in Children with Spina Bifida

et al. 2020

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“…The HRC-test has been developed to establish the proportion of homozygously-recessive clearly-expressed characteristics in every individual as markers of chromosomal homozygosities, implicating the degree of genetic homozygosity in humans [ 8 , 16 , 20 , 21 ]. It is reliable method for estimating the individual homozygosity and is performed by direct observation of defined phenotype traits [ 9 , 10 , 16 , 20 , 21 , 22 ]. To secure the same objectivity and equal criteria for determination of HRCs, one person performed the testing on studied population.…”

Section: Methodsmentioning

confidence: 99%

“…The use of homozigously-recessive characteristics (HRC) test, used to determine genetic homozygosity in humans over 30 years, has shown that the group of individuals with different conditions have higher genetic homozygosity and lower variability for tested genes compared to the healthy control groups [ 8 , 9 , 10 , 11 ].…”

Section: Introductionmentioning

confidence: 99%

Genetic and Environmental Dispositions for Cardiovascular Variability: A Pilot Study

Karan

Cvjetićanin

Kovačević-Kostić

et al. 2018

JCM

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Background: The aim of our study was to evaluate the degree of genetic homozygosity in the group of patients with coronary artery disease (CAD), as well as to evaluate morphogenetic variability in CAD patients regarding the presence of investigated risk factors (RF) compared to a control sample of individuals. Additionally, we aimed to evaluate the distribution of ABO blood type frequencies between tested samples of individuals. Methods: This study analyzed individual phenotype and morphogenetic variability of 17 homozygously-recessive characteristics (HRC), by using HRC test in a sample of 148 individuals in CAD patients group and 156 individuals in the control group. The following RF were analyzed: hypertension, diabetes mellitus, hyperlipidemia, and smoking. Results: The mean value of HRC in CAD patients is significantly higher, while variability decreases compared to the control sample (CAD patients: 4.24 ± 1.59, control sample: 3.75 ± 1.69; VCAD-patients = 37.50%, VC = 45.07%). There is a significant difference in individual variations of 17 HRC between control sample and CAD patients (χ2 = 169.144; p < 0.01), which points out to different variability for tested genes. Mean values of HRC significantly differed in CAD patients in regard to the number of RF present. A blood type (OR = 1.75) is significant predictor for CAD, while O blood type (OR = 0.43) was significantly associated with controls. Conclusion: There is a higher degree of recessive homozygosity in CAD patients versus individuals in the control sample, and the presence of significant variations in the degree of recessive homozygosity as the number of tested RF increases.

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Homozygous-Recessive Characteristics as a Biomarker of Predisposition for COVID-19

et al. 2023

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Coronavirus disease (COVID-19), a new form of severe acute respiratory syndrome, has caused a global pandemic. The aim of this study was to analyze homozygous-recessive characteristics (HRC) in the group of COVID-19 patients, considering their gender, forms of the disease (mild and severe symptoms), risk factors: hypertension, diabetes mellitus type 2, hyperlipidemia, smoking habits, and the distribution of ABO blood group. Using the HRC test, we analyzed 20 HRCs in a sample of 321 individuals: 205 patients and 116 controls. The average HRC in patients was significantly higher than controls, as well as in patients with severe symptoms compared to patients with mild symptoms. The patients with higher HRC (cut-off ≤5.5) experienced a significantly increased risk of disease of 2.3 times ( OR = 2.315, p < .0005). Our results indicate that the HRC test could be used as a screening in recognizing predisposition for COVID-19.

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Morphogenetic variability and genetic loads among patients with different expression of developmental hip dysplasia

Cited by 5 publications

References 15 publications

Morphogenetic Variability as Potential Biomarker of Neurogenic Lesion Degree in Children with Spina Bifida

Morphogenetic Variability as Potential Biomarker of Neurogenic Lesion Degree in Children with Spina Bifida

Genetic and Environmental Dispositions for Cardiovascular Variability: A Pilot Study

Homozygous-Recessive Characteristics as a Biomarker of Predisposition for COVID-19

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