ArticleArchives of medical science : AMS2010
Degree of genetic homozygosity and distribution of AB0 blood types among patients with spina bifida occulta and spina bifida aperta.
Article in Archives of medical science : AMS, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 22 citations in OpenAlex.
- Digital Image Analysis of Vertebral Body S1 and Its Ossification Center in the Human Fetus.Brain sciences · 2025Article
- Homozygous-Recessive Characteristics as a Biomarker of Predisposition for COVID-19.Clinical nursing research · 2023Article
- Morphogenetic Variability as Potential Biomarker of Neurogenic Lesion Degree in Children with Spina Bifida.Healthcare (Basel, Switzerland) · 2020Article
- Genetic and Environmental Dispositions for Cardiovascular Variability: A Pilot Study.Journal of clinical medicine · 2018Article
- Cross-sectional study of C1-S5 vertebral bodies in human fetuses.Archives of medical science : AMS · 2015Article
- New patterns of the growing L3 vertebra and its 3 ossification centers in human fetuses - a CT, digital, and statistical study.Medical science monitor basic research · 2013Article
- Population genetic analyses of susceptibility to increased body weight.Archives of medical science : AMS · 2012Article
- Gender and morphogenetic variability of patients with spina bifida occulta and spina bifida aperta: prospective population-genetic study.Hippokratia · 2012Article
- Distribution of affected muscles and degree of neurogenic lesion in patients with spina bifida.Archives of medical science : AMS · 2011Article
- Individual phenotype trait variability as genetic markers of gender susceptibility to spina bifida.Balkan journal of medical genetics : BJMG · 2011Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionAssuming that spina bifida (SB) is a genetically controlled disease, the aim of our study was to evaluate the degree of genetic homozygosity and the distribution of AB0 blood types among patients with SB occulta and SB aperta by the homozygously recessive characteristics (HRC) test. MATERIAL AND
methodsOur study included an analysis of the presence, distribution and individual combination of 15 selected genetically controlled morpho-physiological traits in a sample of 100 patients with SB (SB occulta N = 50 and SB aperta N = 50) and a control group of individuals (N = 100).
resultsWe found a statistically significant difference between the mean values for genetic homozygosity (SB 4.5 ±0.3; control 3.0 ±0.2, p < 0.001) and also differences in the presence of certain individual combinations of such traits. In 12 (80.0%) of the 15 observed characteristics, recessive homozygosity was expressed to a greater degree among the group of SB patients, while for 9 (60.0%) of the traits this level of difference was statistically significant (Σ(χ) (2) = 266.3, p < 0.001). There was no difference in average homozygosity of such genetic markers between groups of SB occulta and SB aperta patients, but the type of individual variation in the two studied groups significantly differed. In the group of patients with SB the frequency of 0 blood group was significantly increased while B blood group was significantly decreased.
conclusionsOur results clearly show that there is a populational genetic difference in the degree of genetic homozygosity and variability between the group of patients with SB and individuals without clinical manifestations, indicating a possible genetic component in the aetiopathogenesis of spina bifida.
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