Bio-demographic characteristics of children with Down syndrome, their siblings, and their parents in Moroccan population.

OBJECTIVE: In this study, we present the results of bio-demographic characteristics of households and associated factors with Down syndrome (DS) birth in Morocco. METHODS: We conducted a retrospective survey between 2014 and 2017 addressed to 277 families with 925 siblings and at least one child with DS (279 with DS). The data are collected using a standardized questionnaire in Marrakech-Safi region. Data were entered and analyzed using the statistical program SPSS statistics software for Windows (version 20.0). Chi-square (χ2) and student t tests were used for testing statistical significance. Differences were considered significant when the p-value <0.05. RESULTS: The binary logistic regression analysis between DS and non-DS children in their bio-demographic characteristics studied (sex, breastfeeding, duration of exclusive breastfeeding, birth weight, maternal age at birth, paternal age at birth, oral contraceptive use, duration of oral contraceptive use before pregnancy, child age and rank of birth) showed that only maternal age and paternal age at birth, duration of exclusive breastfeeding, birth weight and child age (OR= 1.08; 95%Cl: 1.04-1.13, OR= 1.04; 95%Cl: 1.00-1.08, OR= 0.95; 95%Cl: 0.92-0.98, OR= 0.31; 95%Cl: 0.22-0.44 and OR= 0.90; 95%Cl: 0.87-0.93, respectively). In the other hand, the comparison between some of socio and bio-demographic characteristics of households studied with data from National Population Survey and Family health (2018) showed a higher level of education in women and men in our sample. Similar results were shown in proportion of men and women in paid employment, the proportion of smoking and alcohol consumption among men and the rate of oral contraceptive use before pregnancy among women. CONCLUSION: Highlighting the bio-demographic characteristics of people with DS will help families to take good care of this group. .

Cytochrome and sulfotransferase gene variation in north African populations.

AIM: To describe the diversity of four cytochrome and four sulfotransferase polymorphisms in six north African samples. Scarce data have been compiled for these samples despite the rich genetic background of north African populations. MATERIALS & METHODS: CYP3A4*1B, CYP3A4*17, CYP3A4*3, CYP3A5*3, SULT1A1*2, SULT1A2*2, SULT1A2*3 and SULT1E1*2 polymorphisms were explored in 556 individuals from Morocco, Algeria, Tunisia and Libya. RESULTS: Allele frequencies in our samples largely exceeded the variation ranges described for European populations, especially for CYP3A4*1B, SULT1A1*2 and SULT1A2*3. CONCLUSION: North African populations are heterogeneous, genetically diverse and show a considerable sub-Saharan African contribution for markers associated with increased risk of prostate cancer and with differential drug metabolism.

Genetic diversity of CYP3A4 and CYP3A5 polymorphisms in North African populations from Morocco and Tunisia.

The genes CYP3A4 and CYP3A5 form part of a cluster of cytochrome P450 genes involved in drug metabolism reactions. The allelic variants of these genes CYP3A4*1B, CYP3A4*3, CYP3A4*17 and CYP3A5*3 have been linked both to the reduced catalytic activity of cytochromes and to prostate cancer risk in whites, though scarce data exist for North African populations. The main objective of this study was to describe CYP3A4*3, CYP3A4*17, CYP3A4*1B and CYP3A5*3 allele frequencies and haplotype variation in Moroccan Berbers and the general Tunisian population. The data obtained for the Tunisian participants were consistent with the European allele frequency ranges described, while Moroccan Berbers showed high frequencies of CYP3A4*17 (1.8%), CYP3A4*3 (8.5%) and the CYP3A4*1B/CYP3A5*3 haplotype (18.4%). This haplotype, linked to an increased risk of prostate cancer, was detected at a much higher frequency compared with the present Tunisian population (8.4%) or with reported frequencies for populations such as whites (0.6%) or African Americans (5.3%).

Polymorphisms influencing muscle phenotypes in North-African and Spanish populations.

AIM: The purpose of this study was to determine the allelic and genotypic frequency distribution of the C34T mutation in the muscle isoform of the adenosine monophosphate deaminase 1 (AMPD1) gene and of the missense substitution K153R in the myostatin (GDF8) gene in one Spanish and two North African populations. METHOD: One sample of 98 individuals was genotyped from the South of Spain (Alpujarra) and two samples from Morocco (77 Berbers and 78 Arabs). RESULTS: The frequency of the AMPD1 C34T mutation was lower in Berbers (0.071) compared with the Alpujarra cohort (0.153, p = 0.018). The GDF8 K153R substitution showed little variability among the three cohorts. CONCLUSIONS: Studies with larger cohorts and other ethnic groups are needed to corroborate that there does not exist any major variability in the genotype distribution of genes associated with muscle phenotypes in the South-Eastern Mediterranean area.

Androgen receptor CAG and GGC polymorphisms in Mediterraneans: repeat dynamics and population relationships.

Microsatellite variation (CAG and GGC repeats) of the androgen receptor (AR) gene shows remarkable differences among African and non-African populations. In vitro studies have demonstrated an inverse relationship between the length of both microsatellites and AR activity. This fact may explain the observed association of the AR gene with prostate cancer and the strong ethnic differences in the incidence of this cancer. CAG and GGC genetic variation has been tested in a large set of populations from the Ivory Coast as well as 12 Mediterranean samples whose variation is described for the first time. The pattern of frequencies observed in the Ivory Coast agrees with data previously reported for other Sub-Saharan populations. Concerning the Mediterranean variation, Sardinian samples are characterised by low genetic diversities, and Egyptian Siwa Berbers by a particular pattern of GGC frequencies. High and Middle Atlas Moroccan Berbers are the most closely related to the Sub-Saharan variation. For both the CAG and GGC repeats, the Ivory Coast and some Moroccan samples exhibit high frequencies of low size alleles (CAG under 18 repeats, and GGC under 15 repeats) that have been associated with prostate cancer.