Maghreb Population Research Articles

Distribution and Conservation Status of European Pond Turtles Emys orbicularis (L., 1758) in Algeria

The Maghreb population of Emys orbicularis extends over a narrow strip of northern Morocco, Algeria, and Tunisia. Our understanding of the presence of this turtle in Algeria, in contrast to Morocco and Tunisia, is quite limited and frequently rests on a few small-scale studies or even reports from a century ago. The present study provides the first complete data on the distribution and level of threat of this species in Algeria. A field survey was carried out based on the data obtained from scattered local reports and available studies that suggested the presence of the species in Algerian wetlands. Data on climatic and habitat preferences, the geographic elevation of inhabited localities, and their conservation status were collected. A total of 45 wetlands were inhabited by E. orbicularis, of which 40 were part of a well-interconnected eastern metapopulation, joined by an extensive hydrographic network. In some places, the species has persisted for over 130 years in the same wetland complex. However, the five remaining populations living in central North Algeria are fragmented, highly isolated, and therefore more threatened. With a few exceptions, turtles inhabit lowlands below 100 m above sea level. Detected sub-populations inhabit mostly stagnant waters (60%), sometimes dams and lakes (24%), and sporadically also slow-moving water bodies (16%). Altogether, the Algerian distribution of E. orbicularis extends to a total area of 2900 km2, a 40 km wide strip with a length of 490 km west of the Tunisian border. Although restricted to this narrow strip, the persistence of numerous populations in Algeria, especially in Numidia, testifies to their relatively better conservation status. In order to ensure the sustainability of these efforts, follow-up and monitoring activities should be suggested, with special attention paid to highly isolated populations to maintain their long-term viability.

Nomenclatural changes on some Mediterranean Aphaenogaster Mayr, 1853 taxa (Hymenoptera, Formicidae).

The ant genus Aphaenogaster Mayr, 1853 is especially diverse in the West-Palearctic region, where its taxonomy is still problematic for several groups. Among other issues, there is a redundancy of valid taxa compared to the number of species whose validity is currently sustained by any evidence. Names that do not represent taxa with clearly defined identities complicate specimen identification and add confusion to biodiversity databases and checklists. Based on a review of the available literature information on several taxa, and the study of both type and non-type material, the following taxonomic changes are proposed: i) A. mauritanica Dalla Torre, 1893 should be considered a senior synonym of A. gibbosa homonyma Emery, 1921 syn. nov. and of A. foreli Cagniant, 1996 syn. nov. (the Maghrebian populations of the pallida group hitherto considered to represent A. foreli should be attributed to A. dulcineae Emery, 1924); ii) A. pallida (Nylander, 1849) should be considered a senior synonym of A. leveillei Emery, 1881 syn. nov. and of A. leveillei laurenti Santschi, 1939 syn. nov.; iii) A. sangiorgii (Emery, 1901) should be considered a senior synonym of A. finzii Müller, 1921 syn. nov. and A. radchenkoi Kiran & Tezcan, 2008 syn. nov.; iv) A. sardoa Mayr, 1853 should be considered a senior synonym of A. sardoa ujhelyii Szabó, 1910 syn. nov. and A. sardoa anoemica Santschi, 1910 syn. nov.; v) A. subterraneosplendida André, 1883 should be considered a senior synonym of A. sicula Emery, 1908 syn. nov.; vi) A. subterraneoides Emery, 1881 should be considered a senior synonym of A. subterraneoides armeniaca Arnol'di, 1968 syn. nov. These changes will reduce the gap between nomenclature and actual understanding of species diversity, while synonymized names may be resurrected if supporting evidence is discovered.

First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP-C founder mutation.

Xeroderma pigmentosum is an autosomal recessive disease characterized by a high sensitivity to UV radiations. The disease is clinically and genetically heterogeneous, thus making accurate early clinical diagnosis difficult. Although the disease is considered rare worldwide, previous studies have shown that it is more frequent in Maghreb countries. So far, no genetic study has been published on Libyan patients, except three reports limited to clinical descriptions. Our study, which represents the first genetic characterization of XP in Libya, was conducted on 14 unrelated families including 23 Libyan XP patients with a consanguinity rate of 93%. Blood samples were collected from 201 individuals including patients and their relatives. Patients were screened for founder mutations already described in Tunisia. The two founder Maghreb XP mutations, XPA p.Arg228* associated with the neurological form and XPC p.Val548Alafs*25 in patients with only cutaneous manifestations, were homozygously identified. The latter was predominant (19 of 23 patients). In addition, another XPC homozygous mutation (p.Arg220*) has been identified in only one patient. For the remaining patient, the absence of founder XPA, XPC, XPD, and XPG mutations suggests mutational heterogeneity of XP in Libya. Identification of common mutations with other Maghreb populations is in favor of a common ancestor in North-African populations.

Morphological variability in Lophyra flexuosa (Fabricius, 1787) (Coleoptera, Cicindelidae) in desert countries is affected by sexual dimorphism and geographic aspect.

Lophyra flexuosa, a eurytopic tiger beetle characterized by long phenological activity, wide geographic and altitudinal distribution, and occurring in the highest number of habitats among all Cicindelidae known from North Africa, was chosen to study its geographic variation in morphology and sexual dimorphism. Here, we found significant sexual dimorphism exhibited in larger body size of females and longer mandibles in males, which can be explained by different roles of particular sexes in courtship. Moreover, we recorded significant differences in body sizes between western and eastern Maghreb populations which could suggest genetic isolation between these populations. As the species is related to habitats placed close to the water reservoirs, which in the desert countries are under significant human pressure (including climate change), we expect a reduction of habitat occupied by this taxon. Therefore, the geographic morphological variability that we observe today in the tiger beetle Lophyra flexuosa in the future could lead to speciation.

Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.

Hereditary hearing impairment (HI) is a heterogeneous condition with over 130 genes associated with genetic non-syndromic HI (NSHI) and Usher syndrome (USH). Approximately 80% of hereditary NSHI cases have autosomal recessive (AR) mode of inheritance. The high rate of consanguinity and endogamy in the Maghreb countries, including Tunisia, Algeria and Morocco, represents a major contributing factor to the development of ARHI. Since the 90s, those populations, with their particular large familiar structure, represented an effective key towards the discovery of the first HI loci and genes. In this study, we performed a deep literature database search to analyze the mutational spectrum and the distribution of pathogenic variants responsible of USH and the NSHI among those populations. To date, 124 pathogenic variants were identified in 32 genes of which over 70% represent population-specific variants. The particular variants' distribution is related to the high rate of consanguinity as well as the multiple shared features such as demographic history of migrations and social behavior that promoted the spreading of several founder mutations within those countries. This is the first study to report lessons from the past and current actualities of HI within the three Maghreb countries. However, despite the great impact placed by such population for the HI genetic studies, only a few next-generation sequencing platforms have so far been implemented with those countries. We, therefore, believe that those countries should be supported to implement this technology that would definitely be of great value in the discovery of additional novel HI genes/variants.

Evidence of drug-induced hepatotoxicity in the Maghrebian population

Drug-induced hepatotoxicity is one of the most challenging hepatic diseases faced nowadays due to a large number of drugs currently used in clinical practice, the enormous dietary supplements which are potentially hepatotoxic, as well as the ability to appear with different clinical symptoms and the absence of specific markers. The current research survey was conducted to investigate drug-induced hepatotoxicity and demographic characteristics of patients with liver damage in the general Maghrebian population between 1992 and 2018. To achieve this goal a questionnaire was adopted to report details on the undesirable effects of drugs and demographic characteristics of affected patients. The results obtained in the current survey showed that 1001 in 25 093 cases of drug-induced toxicity were registered with drug-induced liver damage between 1992 and 2018. Regarding demographic characteristics of affected patients, the most affected age group was 18 to 44-years-old with a percentage of 45.70% followed by the age group 45 to 64-year-old with a percentage of 27.20%. Females were the most frequently affected by the hepatic side effects of drugs vs. males. Paracetamol, isoniazid, rifampicin, and pyrazinamide were the main responsible drugs for liver damage in the study population. Alteration of biological parameters and subclinical phenomena were used as clinical manifestations of liver damage in the study population. The outcome of the present study suggests paying more attention to drugs used for medication and the involvement of rigorous clinical monitoring to prevent or to minimize the side effects of drugs.

Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome

To understand the genetics of steroid-sensitive nephrotic syndrome (SSNS), we conducted a genome-wide association study in 987 childhood SSNS patients and 3,206 healthy controls with Japanese ancestry. Beyond known associations in the HLA-DR/DQ region, common variants in NPHS1-KIRREL2 (rs56117924, P=4.94E-20, odds ratio (OR)=1.90) and TNFSF15 (rs6478109, P=2.54E-8, OR=0.72) regions achieved genome-wide significance and were replicated in Korean, South Asian and African populations. Trans-ethnic meta-analyses including Japanese, Korean, South Asian, African, European, Hispanic and Maghrebian populations confirmed the significant associations of variants in NPHS1-KIRREL2 (Pmeta=6.71E-28, OR=1.88) and TNFSF15 (Pmeta=5.40E-11, OR=1.33) loci. Analysis of the NPHS1 risk alleles with glomerular NPHS1 mRNA expression from the same person revealed allele specific expression with significantly lower expression of the transcript derived from the risk haplotype (Wilcox test p=9.3E-4). Because rare pathogenic variants in NPHS1 cause congenital nephrotic syndrome of the Finnish type (CNSF), the present study provides further evidence that variation along the allele frequency spectrum in the same gene can cause or contribute to both a rare monogenic disease (CNSF) and a more complex, polygenic disease (SSNS).

Phylogeny of the Eurasian Wren Nannus troglodytes (Aves: Passeriformes: Troglodytidae) reveals deep and complex diversification patternsof Ibero-Maghrebian and Cyrenaican populations.

The Mediterranean Basin represents a Global Biodiversity Hotspot where many organisms show high inter- and intraspecific differentiation. Extant phylogeographic patterns of terrestrial circum-Mediterranean faunas were mainly shaped through Pleistocene range shifts and range fragmentations due to retreat into different glacial refugia. Thus, several extant Mediterranean bird species have diversified by surviving glaciations in different hospitable refugia and subsequently expanded their distribution ranges during the Holocene. Such a scenario was also suggested for the Eurasian Wren (Nannus troglodytes) despite the lack of genetic data for most Mediterranean subspecies. Our phylogenetic multi-locus analysis comprised 18 out of 28 currently accepted subspecies of N. troglodytes, including all but one subspecies which are present in the Mediterranean Basin. The resulting phylogenetic reconstruction dated the onset of the entire Holarctic radiation of three Nannus species to the early Pleistocene. In the Eurasian Wren, two North African subspecies represented separate basal lineages from the Maghreb (N. t. kabylorum) and from the Libyan Cyrenaica (N. t. juniperi), being only distantly related to other Mediterranean populations. Although N. troglodytes appeared to be paraphyletic with respect to the Nearctic Winter Wren (N. hiemalis), respective nodes did not receive strong statistical support. In contrast, paraphyly of the Ibero-Maghrebian taxon N. t. kabylorum was strongly supported. Southern Iberian populations of N. t. kabylorum did not clade with Maghrebian populations of the same subspecies but formed a sister clade to a highly diverse European clade (including nominate N. t. troglodytes and eight further taxa). In accordance with a pattern also found in other birds, Eurasian populations were split into a western clade (Europe, Caucasus) and an eastern clade (Central Asia, Sino-Himalayas, East Asia). This complex phylogeographic pattern revealed cryptic diversification in N. troglodytes, especially in the Iberio-Maghrebian region.

Lophyra flexuosa (Fabricius, 1787) (Coleoptera: Cicindelidae) in desert countries: morphological variability in geographic aspect as potential beginning of speciation?

Lophyra flexuosa is one of only several eurytopic tiger beetles species known from Palearctic realm. Its geographical distribution shows several populations that are spread from the Iberian Peninsula and Morocco, across some regions of south-western Europe and northern Africa to Israel and Syria. The species is characterized by long phenological activity, wide altitudinal distribution, and occurs in the highest number of habitats among all Cicindelidae known from Maghreb region. In the present study the geographical variation in morphology and sexual dimorphism in north African populations of L. flexuosa was studied. In total 52 samples with over 700 specimens were collected including 20 samples in Morocco and 32 in Tunisia. To test the variation in morphometric traits measurements of eight body parameters were taken from all males (383) and females (352) including right mandible length, length of head, width of head, length of pronotum, maximum pronotum width, length of elytra, maximum elytra width, and total body length. We discovered significant sexual dimorphism expressed by larger body size of females and longer mandibles in males, what can be explained by different roles of particular sexes in courtship. Moreover, we recorded significant differences in body sizes between western and eastern Maghreb populations which can suggest genetic isolation between these populations. As the species is related to habitats placed close to water reservoirs, which in the desert countries are under significant human pressure (including climate change), we expect an reduction of habitats occupied by this taxon. Therefore, the geographic morphological variability that we observe today in the tiger beetle Lophyra flexuosa may lead to speciation and creation of separate species in the future.

Two consecutive Wolbachia‐mediated mitochondrial introgressions obscure taxonomy in Palearctic swallowtail butterflies (Lepidoptera, Papilionidae)

AbstractSwallowtail butterflies (Papilionidae) are among the most spectacular and well‐known Lepidoptera in the European fauna, but their systematics is not fully elucidated. A notable case is that of Iphiclides feisthamelii which, after more than 180 years since description, still has a debated status, being often considered as a subspecies of Iphiclides podalirius. To elucidate the relationship between the two taxa and the evolutionary processes that led to their separation, we combine mitochondrial and nuclear DNA (mtDNA and nDNA) data, Wolbachia screening, genitalia morphology and wing UV reflectance. Our results show that the two taxa clearly differ in male and female genital morphology, male wing UV reflectance and nDNA. Two Wolbachia strains were found to widely infect the studied samples, apparently explaining the phylogeographic pattern displayed by mtDNA. The available data point towards a historical Wolbachia infection that spread from I. podalirius to I. feisthamelii and produced a mitochondrial introgression. Currently, a new Wolbachia strain is spreading across mainland populations of I. podalirius, mediating once more a mitochondrial genetic sweep, which has already infected and introgressed I. feisthamelii populations in south‐eastern France. We conclude that, given the marked differences in morphology and nDNA between the two taxa, and the apparent restriction of hybridization to a narrow contact area where non‐hybrid specimens are common, the taxon feisthamelii should be considered as a separate species. Within this species, two well‐differentiated nDNA lineages that represent European and Maghrebian populations are documented, here proposed as subspecies. The case of, presumably, two consecutive Wolbachia‐mediated mitochondrial introgression events, further supports the view that infection by this endosymbiont may be frequently related to mito‐nuclear discordance in insects.

Genomic characterization of Algerian Guelmoise cattle and their genetic relationship with other North African populations inferred from SNP genotyping arrays

Understanding between and within-breeds genetic variability is essential in the choice of conservation management decisions for threatened populations. In this study we assessed the genetic diversity of the Algerian Guelmoise cattle (GUE) by analyzing data on 24 GUE individuals genotyped for the Illumina BovineSNP50 BeadChipv2. We also provided a detailed description of the population structure of GUE using comparisons with 23 worldwide cattle populations, selected as being representative of African, South European and indicine populations, in addition to four North African populations. We show that GUE is an admixed population which has strong genetic similarity to Tunisian cattle owing both to a common ancestral origin and a continuous gene flow. GUE was found to be less subject to foreign breed introgression than native Tunisian cattle. We also found support for a past admixture between GUE and the Moroccan Oulmès Zaer breed. The observed heterozygosity of GUE population was similar to that observed for the South European breeds and the other Maghreb populations (Ho∼0.30). By investigating the occurrence of Runs of Homozysosity (ROHs) in a subset of nine populations, we found that GUE had the lowest cumulative ROH length per animal with the largest proportion of their genome covered with medium and long (> 5 Mb) ROHs. This likely indicates that GUE is derived from a large ancestral population which has subsequently undergone a recent increasing levels of inbreeding. ROH islands within GUE harbored genes enriched in immune defense and transcriptional regulation functions in addition to genes related to the Pregnancy-associated proteins family. Our study is the first of its kind providing insights into the genomic structure and the phylogenetic relationships of Guelmoise cattle population. It points out the possibility to establish a common genetic management program between Algeria and Tunisia aimed at safeguarding the endangered indigenous North African cattle.

Ecotypic variation and stability in growth performance of the thermophilic conifer Pinus halepensis across the Mediterranean basin

The combined effects of local adaptation and phenotypic plasticity influencing plant performance are relevant to understand the capacity for genetic responses to climate change. Pinus halepensis is a native species of low- to mid-elevation Mediterranean forests with a high ecological value in drought-prone areas. Thus, it is of utmost importance to determine its adaptive structure for key traits such as growth or survival. Here, we analyse a highly unbalanced dataset collated from different common-garden networks that cover the distribution range of the species. A total of 82 range-wide populations were evaluated in nine Mediterranean trials located in Israel, Italy and Spain. A climate classification of populations allowed for the definition of six different groups, or ecotypes, which showed contrasting performances for tree height and survival at age 15. The effects of ecotypic differentiation and among-ecotypes genetic variation in plasticity were disentangled by fitting stability models accounting for interaction and heteroscedasticity in genotype-by-environment tables. For growth, a Finlay–Wilkinson model suggested high predictability of ecotypic plastic responses in P. halepensis, as described by different linear reaction norms. However, differences in mean height of ca. 15% among ecotypes dominated intra-specific patterns of tree growth across trials, pointing to preponderance of genotypic adaptation over differential ecotypic plasticity in this species. For survival, ecotypic differences were approximately constant across trials, suggesting lack of genotype-by-environment effects. Sub-humid cool climate populations from the eastern Mediterranean (e.g., Greek populations) showed general adaptation and high sensitivity to improved growing conditions, as opposed to populations from the driest ecological extreme of the species (e.g., south Spain and Maghreb populations), which exhibited specific adaptation to harsh environments. Altogether, our results indicate a general adaptive syndrome by which less reactive ecotypes to ameliorated conditions (e.g., non-water-limited) would be associated with high survival rates and low growth. The reported ecotypic differentiation constitutes the basis for tailoring intra-specific responses to climate and disentangling the relationship between adaptive variation and resilience towards climatic warming for this exemplary Mediterranean pine.

North‐west Africa as a source and refuge area of plant biodiversity: a case study on Campanula kremeri and Campanula occidentalis

AbstractAimNorth‐west Africa, because of its position at the crossroads between Macaronesia and the Iberian Peninsula, has played an important role on the emergence and maintenance of Mediterranean plant diversity. In this study, we reconstruct the phylogeographical history of a lineage of bellflowers comprising the north African‐south Iberian species Campanula kremeri and the Canarian Campanula occidentalis (Azorina‐group), to investigate the genetic imprints left by past climatic and palaeogeographical events on the northern African flora.LocationNorth‐west Africa, Iberian Peninsula, and the Canary Islands.MethodsWe reconstructed the biogeographical history of the Azorina‐group to provide a phylogenetic background. We then investigated the phylogeographical patterns within C. kremeri and C. occidentalis using the AFLP and sequence data. We integrated these results with the past species‐distribution modelling to understand the current biodiversity patterns within this lineage.ResultsThe ancestor of C. kremeri‐C. occidentalis diverged in the Late Miocene/Early Pliocene. Nuclear data supported species monophyly, whereas plastid data suggested that C. kremeri is paraphyletic. Maghrebian populations of C. kremeri showed high genetic diversity, whilst Iberian ones and those of C. occidentalis exhibited lower values.Main conclusionsRepeated expansion‐retraction events associated with Pleistocene climatic changes in North Africa facilitated gene flow across Maghrebian ranges in C. kremeri. Mountain massifs in north‐west Africa likely acted as refugia for Mediterranean plants during interglacial periods, whereas range expansion in cooler periods triggered dispersal to neighbouring regions. The range of C. kremeri expanded to the Iberian Peninsula by long‐distance dispersal across the Strait of Gibraltar during the Pleistocene. The relatively old age inferred for C. occidentalis together with its low genetic diversity point to a recent colonization of the Canary Islands from north‐west Africa followed by extinction in the mainland or an old lineage that underwent a recent genetic bottleneck.

LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease.

Background. The LRRK2 G2019S mutation is the most common genetic determinant of Parkinson's disease (PD) identified to date. This mutation, reported in both familial and sporadic PD, occurs at elevated frequencies in Maghreb population. In the present study, we examined the prevalence of the G2019S mutation in the Moroccan population and we compared the motor and nonmotor phenotype of G2019S carriers to patients with idiopathic Parkinson's disease. Methods. 100 PD patients were assessed for motor and nonmotor symptoms, current medication, and motor complication including motor fluctuations and dyskinesia. The LRRK2 G2019S mutation was investigated by direct sequencing in patients and ethnically matched controls, all of Moroccan origin. Results. Among the 100 PD Moroccan patients, 41 (41%) were carriers of the G2019S mutation. The mutation frequency was higher among probands with autosomal dominant inheritance (76%) than among sporadic ones (28%). Interestingly, G2019S mutation was also found in 5% of control individuals. Clinically, patients carrying the G2019S mutation have more dystonia (OR = 4.6, p = 0.042) and more sleep disorders (OR = 2.4, p = 0.045) than noncarriers. Conclusions. The LRRK2 G2019S prevalence in Morocco is the highest in the world reported to date. Some clinical features in G2019S carriers such as dystonia and sleep disturbances are worth noting.

Genetic differentiation of the pine processionary moth at the southern edge of its range: contrasting patterns between mitochondrial and nuclear markers.

The pine processionary moth (Thaumetopoea pityocampa) is an important pest of coniferous forests at the southern edge of its range in Maghreb. Based on mitochondrial markers, a strong genetic differentiation was previously found in this species between western (pityocampa clade) and eastern Maghreb populations (ENA clade), with the contact zone between the clades located in Algeria. We focused on the moth range in Algeria, using both mitochondrial (a 648 bp fragment of the tRNA‐cox2) and nuclear (11 microsatellite loci) markers. A further analysis using a shorter mtDNA fragment and the same microsatellite loci was carried out on a transect in the contact zone between the mitochondrial clades. Mitochondrial diversity showed a strong geographical structure and a well‐defined contact zone between the two clades. In particular, in the pityocampa clade, two inner subclades were found whereas ENA did not show any further structure. Microsatellite analysis outlined a different pattern of differentiation, with two main groups not overlapping with the mitochondrial clades. The inconsistency between mitochondrial and nuclear markers is probably explained by sex‐biased dispersal and recent afforestation efforts that have bridged isolated populations.

A Multiracial Republic? The Challenges Faced by the Maghreb Population in France

As European society becomes more multiethnic and multiracial, Member States of the European Union are faced with the need to formulate adequate policy responses to immigration and integration issues. France has had a distinctive history, lasting over five decades, as a recipient country for non-European immigrants from the Maghreb region of Northern Africa. Over time, discrepancies in living conditions between Maghreb immigrants and the wider French society have only deepened. To investigate the current state of the Maghreb community in France, this analytical paper pursues the following questions: How does the persistence of political, economic, and social differences affect the position of Maghreb immigrants in French society? What efforts are being made by the French government to minimize disparities between the Maghreb population and the wider society? What is the relationship between the French model of integration and the policies of other EU states on immigrant integration?

Association of rs6822844 within the KIAA1109/TENR/IL2/IL21 locus with rheumatoid arthritis in the Algerian population.

Increasing evidence suggests that the rs6822844, within KIAA1109/TENR/IL2/IL21 gene cluster on 4q27, is strongly associated with rheumatoid arthritis (RA) in the Caucasian population. The aim of this study is to investigate the possible association between the SNP rs6822844 and susceptibility to RA in the Algerian Maghreb population, and to explore the association with the clinical and immunological features of RA. The polymorphism rs6822844 was genotyped in 323 RA patients and 323 healthy individuals using the TaqMan assay. A strong association of IL2/IL21 with RA susceptibility was detected in the Algerian population [odds ratio (OR) = 2.57 (95% confidence interval (CI) 1.74-3.83), P = 10(-4) ]. Our results revealed that IL2/IL21 predisposed to disease development in both autoantibody positive and negative disease. Meanwhile, the association was stronger in RA patients with anti-cyclic citrullinated peptides (ACPA) positive than those with ACPA negative [OR = 2.30 (95% CI 1.53-3.51), P = 10(-4) and OR = 1.98 (95% CI 1.01-4.22), P = 0.037, respectively]. Moreover, our findings showed a moderate association of the rs6822844 polymorphism with disease activity (P = 0.014). This study indicates for the first time that there is a strong association between IL2/IL21 rs6822844 variant and susceptibility to RA in the Algerian population, and that this association was independent from the autoantibodies status of RA patients.

Clinical and genetic data of Huntington disease in Moroccan patients.

Huntington's disease (HD) occurs worldwide with prevalence varying from 0.1 to 10/100,000 depending of the ethnic origin. Since no data is available in the Maghreb population, the aim of this study is to describe clinical and genetic characteristics of Huntington patients of Moroccan origin. Clinical and genetics data of 21 consecutive patients recruited from 2009 to 2014 from the outpatient clinic of six medical centers were analyzed. Statistical analysis was performed using descriptive statistics. Twenty one patients from 17 families were diagnosed positive for the IT15 gene CAG expansion. Clinical symptoms were predominantly motor (19/21). Twelve patients had psychiatric and behavioral disorders, and 11 patients had cognitive disorders essentially of memory impairment. Analysis of genetic results showed that 5 patients had reduced penetrant (RP) alleles and 16 had fully penetrant (FP) alleles. The mean CAG repeat length in patients with RP alleles was 38.4 ± 0.54, and 45.37 ± 8.30 in FP alleles. The age of onset and the size of the CAG repeat length showed significant inverse correlation (p <0.001, r = -0.754). Clinical and genetic data of Moroccan patients are similar to those of Caucasian populations previously reported in the literature.

Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.

Macrozoospermia is a rare condition of male infertility characterized by the presence of close to 100% large-headed multiflagellar spermatozoa. The homozygous mutation (c.144delC) in aurora kinase C gene (AURKC) has been identified as the most frequent mutation causing macrozoospermia in North African patients. The aim of this study was to evaluate the prevalence of this condition in Tunisia and estimate the frequency of c.144delC mutation among infertile and control populations. Sequencing c.144delC mutation was carried out in 33 macrozoospermic patients among 6652 infertile men. Minisequencing of exon3 was performed in 250 unrelated control individuals to estimate the frequency of c.144delC heterozygosity. More than 80% of macrozoospermic patients were c.144delC homozygous. The prevalence of homozygous c.144delC was 0.4% among infertile men (27/6652). The frequency of heterozygosity was 0.4% among controls (1/250). Surprisingly, it is five times less common than established in the general population of North Africa (2%) or in the Moroccan population (1.7%). We show that this mutation is relatively less frequent in the Tunisian population than in other Maghrebian populations. The occurrence of homozygous mutation among infertile men can be attributed to the high rate of consanguinity and its impact on the expression of this autosomal recessive male infertility disorder rather than a high frequency of heterozygous carriers among the general population. This highlights the importance of the molecular analysis of AURKC mutations for infertile men with high percentage of large-headed multiflagellar spermatozoa in order to limit unnecessary in vitro fertilization attempts for them.

MS in Maghrebian inhabitants and immigrants

Genetic predisposition, unknown environmental factors, or a combination of both may explain the variable prevalence of multiple sclerosis (MS) in the world. Few epidemiological data are available concerning MS patients in Maghreb. Studies of Maghrebian immigrants showed a more aggressive course of MS in Maghrebian population than in European patients. The prevalence of MS in the Maghreb was found to increase over the past few decades. Thus, Maghrebian population moved from a low prevalence area to a medium prevalence zone. An increase of female incidence of MS patients in the Maghreb was reported. MS in Maghrebian immigrants was well studied and results showed a more aggressive course in comparison to European population with mostly primary progressive forms and cerebellar symptoms. Despite an earlier onset in Maghrebian immigrants patients, the disease progresses more rapidly, with a higher proportion showing incomplete recovery from the first relapse, a shorter time between the first two relapses, a higher number of relapses in the first 5 years, and a shorter time to reach an EDSS of 4 and 6. Clinical course in Maghrebian population varies among recent studies. Some studies showed an aggressive course but not in others. However, in our experience through a multicentre Maghrebian study, MS patients have quite similar clinical feature and disability progression to European patients. Factors contributing to this variation include different methodology, short follow up period and lack of prospective studies. Prospective multicentre studies in Maghrebian population will better characterize the clinical course in the Maghreb.