Degree of genetic homozygosity and distribution of AB0 blood types among patients with spina bifida occulta and spina bifida aperta

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 (Σχ 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.

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

“…Neural tube closure is a process involving interactions between genes, where environmental factors play significant role, pointing out the multifactorial inheritance of the spina bifida entity [24]. Beside the environmental factors that were studied broadly in several studies [8,24], as well as some molecular genetic observations, including the correlation of certain mutations on X chromosome and its influence on the SB formation [3,10,[25][26][27][28], a population-genetic approach, as a new method, can give a new insight on etiology for individuals with spina bifida [4,29].…”

“…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]:…”

New patterns of the growing L3 vertebra and its 3 ossification centers in human fetuses – a CT, digital, and statistical study

“…Hemivertebra is commonly associated with other skeletal anomalies [10], diastematomyelia [36], cardiac, urogenital, and gastrointestinal tract anomalies [8], and some syndromes, including Jarcho-Levin syndrome, Klippel-Fiel syndrome, VATER syndrome (vertebral anomalies, imperforate anus, tracheo-esophageal fistula, renal anomalies), VACTERL syndrome (VATER, cardiac and limb anomalies), OEIS (omphalocele, urinary bladder exstrophy, imperforate anus, and spinal anomalies), the Potter sequence, and spina bifida [11,35]. The most relevant form of spina bifida is myelomeningocele with the unfused neural processes of the lumbosacral spine, allowing the spinal cord to protrude through an opening [37,38]. Furthermore, detailed knowledge of the growth of vertebral ossification centers in the fetal period may be helpful in the prenatal detection of skeletal dysplasias (osteochondrodysplasias) resulting in a delay in appearance of ossification centers and poor mineralization, which is typical of osteogenesis imperfecta type II [12,39], achondrogenesis [40], thanatophoric dysplasia type I [12], and hypophosphatasia [41].…”

Individual Phenotype Trait Variability as Genetic Markers of Gender Susceptibility to Spina Bifida

“…A difference in genetic variability between healthy individuals and those with a diagnosed SB was reported by Nikolic et al [19], but the possible role of gender for the SB individuals has not yet been observed regarding the individual traits variability.…”