The twenty first century can be called the genomic era referring to the rapid development of genetics, and the beginning of genomic medicine. An initial step towards genomic medicine is to evaluate the knowledge and attitude towards genetic testing among different populations. The aims of this study were to assess the genetic knowledge and attitude towards genetic testing among the Jordanian population and patients with immune diseases. In addition, we evaluated the association between knowledge, attitude and several demographic factors of the population. This study was performed using an online questionnaire that was distributed to respondents from different regions of Jordan. A total of 1149 participants were recruited from the Jordanian population. Overall factual genetic knowledge of the participants was good (65.4%), with education level, working or studying in a health-related field and household average monthly income being significant predictors of factual knowledge scores (P = 0.03, P < 0.001 and P < 0.001, respectively). However, factual knowledge results revealed that scores of questions related to diseases were significantly higher than scores of gene-related scientific facts (P < 0.01). Participants of our study reported to have low perceived knowledge on medical uses (39.5%) and social consequences (23.9%) of genetic testing. Regarding the participants’ attitudes, favorable attitudes towards genetic testing were prevailing (91.5%). Favorable attitudes were more prominent among higher educated participants, and participants with higher scores of factual knowledge. Despite the fact that our Jordanian-based study revealed a good level of genetic knowledge as well as a favorable attitude towards genetic testing, we realized an imbalance of knowledge between gene-related scientific facts and disease-related concepts as well as between factual and perceived genetic knowledge, which indicates the necessity of increasing the awareness about genetic testing in order to ensure that individuals can take informed decisions that help in the employment of personalized medicine.

The present study aimed to identify the NAT2 haplotypes, linkage disequilibrium, and novel NAT2 genetic variants among Jordanian population. We isolated the genomic DNA from 68 healthy, Arab, unrelated Jordanian volunteers to amplify the protein-coding region of NAT2 gene by polymerase chain reaction (PCR). Then, the amplified PCR products were sequenced using Applied Biosystems Model (ABI3730x1). It is found that the allele frequencies of known NAT2 genetic variants 191G>A, 282C>T, 341T>C, 481C>T, 590G>A, and 803A>G were 0.7, 26.5, 48.5, 35.3, 30.9, and 32.4%, respectively. The NAT2 allele frequencies were generally similar to those of white Europeans but different from those of Asian and African populations. The most common NAT2 haplotype was NAT2*5B with a frequency of 29.3%. According to the NAT2 haplotype frequencies, 72% (95% confidence interval 61.4–82.7%) of the volunteers were slow encoding NAT2 haplotype acetylators. The NAT2*5 represented variants 341T>C and 481C>T were in strong but not complete linkage disequilibrium (D′ = 0.8, r² = 0.63). In addition, this study found a novel nonsynonymous NAT2 436G>A genetic variant with low frequency (0.7%). However, this novel variant was predicted to be tolerated and not harmful to the NAT2 protein, using in silico prediction tools. It is concluded that the frequency of slow encoding NAT2 haplotype was high among Jordanian volunteers, which may have effects on drug responses and susceptibility to some diseases, such as cancers.

Cranial motor nerves in vertebrates are comprised of the three principal subtypes of branchial, visceral, and somatic motor neurons, which develop in typical patterns along the anteroposterior and dorsoventral axes of hindbrain. Here we demonstrate that the formation of branchial and visceral motor neurons critically depends on the transcription factors Nkx2.2 and Nkx2.9, which together determine the cell fate of neuronal progenitor cells. Disruption of both genes in mouse embryos results in complete loss of the vagal and spinal accessory motor nerves, and partial loss of the facial and glossopharyngeal motor nerves, while the purely somatic hypoglossal and abducens motor nerves are not diminished. Cell lineage analysis in a genetically marked mouse line reveals that alterations of cranial nerves in Nkx2.2; Nkx2.9 double-deficient mouse embryos result from changes of cell fate in neuronal progenitor cells. As a consequence progenitors of branchiovisceral motor neurons in the ventral p3 domain of hindbrain are transformed to somatic motor neurons, which use ventral exit points to send axon trajectories to their targets. Cell fate transformation is limited to the caudal hindbrain, as the trigeminal nerve is not affected in double-mutant embryos suggesting that Nkx2.2 and Nkx2.9 proteins play no role in the development of branchiovisceral motor neurons in hindbrain rostral to rhombomere 4.

Background: The Human Leukocyte Antigen (HLA) class II genes, particularly the HLA-DR and -DQ loci, have been shown to play a crucial role in Type 1 Diabetes (T1D) development. Objective: This study is the first to examine the contribution of the HLA-DR/DQ alleles and haplotypes to T1D susceptibility in Jordanians. Methods: Polymerase chain reaction sequence-specific primers (PCR-SSP) were used to genotype 41 Jordanian healthy controls and 50 insulin-dependent diabetes mellitus (IDDM) patients. Results: The following alleles were found to be significant high risk alleles in T1D Jordanian patients: DRB1*04 (OR=3.95, p<0.001), DRB1*0301 (OR=5.27, p<0.001), DQA1*0301 (OR=5.67, p<0.001), DQA1*0501 (OR=3.18, p=0.002), DQB1*0201 (OR=2.18, p=0.03), DQB1*0302 (OR=5.67, p<0.001). However, Jordanians harboring the DRB1*0701 (OR=0.37, p=0.01), DRB1*1101 (OR=0.2, p=0.01), DQA1*0505 (OR=0.31, p=0.02), DQA1*0103 (OR=0.33, p=0.04), DQA1*0201 (OR=0.45, p=0.04), DQB1*0301 (OR=0.23, p=0.001), DQB1*0501 (OR=0.18, p=0.009) alleles had a significantly lower risk of developing T1D. Conclusion: A strong positive association of DRB1*04-DQA1*0301-DQBl*0302 (OR=5.67, p<0.001) and DRB1*0301-DQA1*0501-DQB1*0201 (OR=6.24, p<0.001) putative haplotypes with IDDM was evident in Jordanian IDDM patients whereas DRB1*1101-DQA1*0505- DQB1*0301 (OR=0.23, p=0.03) was shown to have a protective role against T1D in Jordanians. Our findings show that specific HLA class II alleles and haplotypes are significantly associated with susceptibility to T1D in Jordanians.

Background: Diabetes mellitus is a long-term disorder with high prevalence globally. It can be classified into two types: Type 1 diabetes and Type 2 diabetes mellitus. Diabetes mellitus is considered a multifactorial disorder in which genetic factors such as cytokines play a major role. Cytokines play a role is immune modulation and are associated with the development of diabetes mellitus. Single nucleotide polymorphisms in cytokines were studied extensively in different populations to determine their association with predisposition to diabetes mellitus. Objective: The aim of this study was to estimate the frequency of single nucleotide polymorphisms in the cytokine genes TNF-α, TGF-β, IL-6, IL-10, and INF-γ in 102 Jordanian diabetes mellitus patients in comparison to 50 controls and their association to diabetes mellitus susceptibility. Objective: The aim of this study was to estimate the frequency of single nucleotide polymorphisms in the cytokine genes TNF-α, TGF-β, IL-6, IL-10, and INF-γ in 102 Jordanian diabetes mellitus patients in comparison to 50 controls and their association to diabetes mellitus susceptibility. Methods: Analysis was performed using the highly specific polymerase chain reaction-sequence specific primers methodology Results: Our findings showed that the IL-10-1082 G/G genotype (P=0.02) and the TGF-β1 codon 25*G allele (P<0.01) may be considered risk factors for type 2 diabetes mellitus. In addition, the IFN- γ -874*A allele (P=0.04) seems to increase the predisposition to type 1 diabetes. Conclusion: Our study showed that the IL-10-1082 G/G genotype and TGF-β1 codon 25*G allele are associated with type 2 diabetes mellitus while the IFN- γ -874*A allele is associated with type 1 diabetes. Our findings may help in the early detection of diabetes mellitus which would in turn help in undergoing the needed preventative measures to delay the onset of diabetes mellitus

Systemic Lupus Erythematosus (SLE) is a prolonged inflammatory autoimmune disease, which is characterized by a high titer of serological autoantibodies. Interactions between environmental and genetic factors play a crucial role in the pathogenesis of SLE. Human Leukocyte Antigen (HLA) genes, namely HLA-class II genes, are one of the main candidate genes that increase susceptibility to SLE. The aim of this study was to investigate, for the first time, the association of HLA-DRB1 and HLA-DQB1 genes among Jordanian patients diagnosed with SLE and Lupus Nephritis (LN) using the Polymerase Chain Reaction-Sequence-Specific Primer (PCR-SSP) technique. This study showed that SLE is positively associated with DRB1*0301, DRB1*1101, DRB1*1102 and HLA-DQB1*0601. Furthermore, HLA-DRB1*0301, DRB1*1101, HLA-DRB1*1501 and HLA-DQB1*0601 were found to be linked to SLE patients with LN. In addition, haplotypes HLA-DRB1*0301/DQB1*0201 and HLA-DRB1*1501/DQB1*0601 were found to be linked to SLE and LN. Our findings may serve as possible predictive markers for early screening for LN risk in SLE patients. In light of these results, the role of HLA gene polymorphisms may help in understanding the clinical course, prognosis of the disease and developing better treatment strategies for SLE patients. In addition, it may help in early diagnosis, prevention, intervention and management of the disease.