Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.

BACKGROUND: Epilepsy, a serious chronic neurological condition effecting up to 100 million people globally, has clear genetic underpinnings including common and rare variants. In Saudi Arabia, the prevalence of epilepsy is high and caused mainly by perinatal and genetic factors. No whole-exome sequencing (WES) studies have been performed to date in Saudi Arabian epilepsy cohorts. This offers a unique opportunity for the discovery of rare genetic variants impacting this disease as there is a high rate of consanguinity among large tribal pedigrees. RESULTS: We performed WES on 144 individuals diagnosed with epilepsy, to interrogate known epilepsy-related genes for known and functional novel variants. We also used an American College of Medical Genetics (ACMG) guideline-based variant prioritization approach in an attempt to discover putative causative variants. We identified 32 potentially causative pathogenic variants across 30 different genes in 44/144 (30%) of these Saudi epilepsy individuals. We also identified 232 variants of unknown significance (VUS) across 101 different genes in 133/144 (92%) subjects. Strong enrichment of variants of likely pathogenicity was observed in previously described epilepsy-associated loci, and a number of putative pathogenic variants in novel loci are also observed. CONCLUSION: Several putative pathogenic variants in known epilepsy-related loci were identified for the first time in our population, in addition to several potential new loci which may be prioritized for further investigation.

Health-related quality of life among female university students in Dammam district: Is Internet use related?

BACKGROUND: Quality of life (QOL) is defined by the World Health Organization as the individual's perception of his/her position in life, within the context of culture and system of values in which the individual lives, and as relates to his/her objectives, expectations, standards, and concerns. Life in university is so stressful; it can affect health-related QOL (HRQOL). There are many factors that affect HRQOL of university students. The aim of this study was to assess the QOL of female university students in Dammam, Saudi Arabia, and identify factors related to it, with special emphasis on Internet use. MATERIALS AND METHODS: This cross-sectional study surveyed 2516 female students at Imam Abdulrahman Bin Faisal University in Dammam, using a self-administered questionnaire with sections on sociodemographics, score for Internet use/addiction (IA), and an assessment of HRQOL. Two latent factors were extracted: physical component summaries (PCSs) and mental component summaries (MCSs). Bivariate analyses and MANOVA were then performed. RESULTS: The overall PCS and MCS were 69% ± 19.6 and 62% ± 19.9, respectively. Almost two-thirds of the students were found to have IA or possible IA. Students whose parents had lower education reported less PCS. Students with high family income reported higher PCS and MCS than those with a lower income. MANOVA model has shown that the higher the IA score, the lower the score of both the PCS and MCS. CONCLUSION: HRQOL in female students was found to be affected by parental educational level, family income, and problematic Internet use.