Molecular evaluation of Ex3 VNTR polymorphism of the DRD4 gene in patients with autism spectrum disorder

Abstract Objective Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders that affect social and communication skills. They are characterized by severe communication and social skills disabilities and limited and repetitive activities and their prevalence appear to be steadily increasing. Genes involved in the dopamine pathway may play an important role in the development of autism and this study we evaluated the possible association between Ex3 VNTR polymorphism of the DRD4 gene and autism spectrum disorder in the Iranian population. Materials & Methods In this case-control study,97 children with autism and 103 healthy individuals were selected from the northwestern area of Iran as the case group and the control group, respectively. After genomic extraction from peripheral blood samples by the proteinase K method, the polymerase chain reaction (PCR) technique was used to determine the genotypes of polymorphism. The data then were coded and analyzed using SPSS22 software. Result The results of the study showed that the allele frequencies were different in the two groups and some of these differences were statistically significant. The most common allele in both the ASD and the control group was the 700 bp allele and its frequency was significantly different in the two groups, being more common in the ASD group. (p-value=0.0018). The other allele with a statistically different frequency was the 800 bp allele which was less frequent in the ASD group (p-value=0.0017). Conclusion These results suggest a potential association between Ex3 VNTR polymorphism of the DRD4 gene and autism spectrum disorder in the Iranian population and necessitate further studies evaluating the DRD4 gene

Analysis of Association between the Effects of Methylphenidate and DRD4 Gene Polymorphisms in Patients with Attention Deficit Hyperactivity Disorder

Background: Drug treatment is one of the most important treatments for attention deficit hyperactivity disorder (ADHD). The DRD4 gene is a transporter and receptor coding gene of dopamine and is one of the most important genes under investigation in the disorder and etiology of ADHD. In this study, the association between rs3758653 C/T and VNTR exon 3 repetition polymorphisms of the DRD4 gene and the effects of methylphenidate were investigated in patients with ADHD disorder consuming methylphenidate. Methods: The descriptive-analytical study was performed on 122 patients (5 - 18 years old) with ADHD who were treated with methylphenidate. DNA was extracted using salting out method. Subsequently, the rs3758653 polymorphism in the 5’UTR region of DRD4 gene was genotyped by PCR-RFLP method, and the VNTR fragment in exon III of DRD4 gene was investigated by electrophoresis gel on acrylamide gel method. After eight weeks from the start of drug treatment with methylphenidate, the intensity of symptoms was evaluated using the Conners scale. Finally, all data from questionnaires and information that were resulted from laboratory findings were analyzed using ANOVA and repeated measure analysis. Results: Of the 122 patients under study, 15 patients (12.3%) were responded to the drug treatment, and 107 patients (87.7%) were not responded. The significant differences were not revealed in genotype, and allele frequencies of between rs3758653 (C/T) and exon III 3’VNTR repeats polymorphisms of the DRD4 gene and responder and non-responder of ADHD groups to the drug treatment. Conclusions: The results showed that the reduction of ADHD symptoms with drug treatment is not related to DRD4 sub-types in patients with ADHD

Breast cancer and dietary fat quality indices in Iranian women: A case–control study

BackgroundThe association between breast cancer (BC) and different indices of dietary fats has not been well-studied. Thus, this study aimed to investigate the association between BC and dietary fat quality (DFQ) indices in Iranian women.MethodsThis case–control study was conducted on 120 women with breast cancer and 240 healthy women in Tehran, Iran. Food Frequency Questionnaire and nutritionist IV software were used to assess the intake of dietary fats and to calculate the DFQ indices.ResultsThe patients with BC had a higher total fat (TF) (P < 0.01) and a lower ratio of polyunsaturated fatty acids (PUFAs) omega-3 to PUFAs omega-6 (ω-3/ω-6) compared with the controls (P < 0.001). TF had a significant association with BC risk (OR: 1.16; 95% CI: 1.01–1.33, P < 0.001). No significant association was found between BC and PUFA/saturated fatty acid ratio or the ω-3/ω-6 ratio.ConclusionThe patients with BC had a lower ω-3/ω-6 ratio and a higher total dietary fat intake than the healthy women. Total dietary fat intake was also directly associated with the risk of BC. Thus, low-fat diets may have beneficial effects for BC prevention. Further longitudinal studies are warranted

Iranome: A catalogue of genomic variations in the Iranian population

Considering the application of human genome variation databases in precision medicine, population-specific genome projects are continuously being developed. However, the Middle Eastern population is underrepresented in current databases. Accordingly, we established Iranome database (www.iranome.com) by performing whole exome sequencing on 800 individuals from eight major Iranian ethnic groups representing the second largest population of Middle East. We identified 1,575,702 variants of which 308,311 were novel (19.6%). Also, by presenting higher frequency for 37,384 novel or known rare variants, Iranome database can improve the power of molecular diagnosis. Moreover, attainable clinical information makes this database a good resource for classifying pathogenicity of rare variants. Principal components analysis indicated that, apart from Iranian-Baluchs, Iranian-Turkmen, and Iranian-Persian Gulf Islanders, who form their own clusters, rest of the population were genetically linked, forming a super-population. Furthermore, only 0.6% of novel variants showed counterparts in "Greater Middle East Variome Project", emphasizing the value of Iranome at national level by releasing a comprehensive catalog of Iranian genomic variations and also filling another gap in the catalog of human genome variations at international level. We introduce Iranome as a resource which may also be applicable in other countries located in neighboring regions historically called Greater Iran (Persia)

Investigating literary gaze through the orchestra model of the tourist experience

Purpose – Considering the diversity of literary sites, various needs and motivations of literary visitors, and the limited research on literary tourists’ experiences, this study aims to explore the literary gaze at Hafez Tomb in Shiraz, Iran. As the visitor gaze encompasses various dimensions of experience, this study connected the two notions to identify the components of the literary gaze and determine the attributes that best describe it. Design/methodology/approach – Data sources include semi-structured interviews with visitors and usergenerated content on Tripadvisor. The deductive thematic analysis and multiple correspondence analysis were used. Findings – The findings revealed the multidimensionality of the literary gaze. The dominant factors that best describe the literary gaze at Hafez’s tomb were the sensory component of the experience, including "seeing", "smelling", "hearing"; affective including "anticipation", "joy", "trust"; cognitive including "perceiving", "thinking", "learning"; behavioural including "literary related", "general"; and relationship including "tourist-companion", "tourist-tourist". Practical implications – Understanding the literary gaze can assist site managers and destination marketers in designing the literary experience and developing promotional strategies that reflect the multifaceted nature of the literary experience. Tourism authorities should identify and shape tourists’ perceptions of literary sites to build the city’s image and brand as a literary city. Originality/value – This paper used the orchestra model of experience to analyse the literary tourist’s gaze. This modification could explain that the literary gaze has multiple dimensions and studying all the dimensions gives the literary experience greater significance

Literary visitors' motivations and experiences: the case of Hafez Tomb in Shiraz, Iran

[Extract] Literary tourism, which have been regarded as a niche within cultural and heritage tourism (Busby & Shetliffe, 2013), refers to the production and consumption of places, landscapes, museums, historic houses, and graves associated with published creative writings and/or their authors (Robinson, 2014, p. 1). Although not provided any statistical evidence, Hoppen, Brown, & Fyall (2014) have emphasized the economic potential of literary tourism and its importance for destination promotion and image creation. Despite increasing number of studies conducted on the literary tourism in the last couple of decades (Busby & Shetliffe, 2013; Hoppen et al., 2014), there is still lack of research in this area, especially in relation to the developing Asian countries (Hoppen et al., 2014; Yu & Xu, 2018). Furthermore, little research has been done on the motivations and experiences of literary sites’ visitors (Busby & Shetliffe, 2013; Herbert, 2001)

Some physiological responses of wheat and bean to soil salinity at low matric suctions

The effect of soil matric suction (2-33 kPa) and salinity (soil solution electrical conductivity 0.7-8 dS m-1 for bean and 2-20 dS m-1 for wheat) on some physiological characteristics of bean and wheat in a clay loam soil under greenhouse condition was investigated. The results showed that the leaf chlorophyll content index and potassium concentration decrease under salinity stress and increase with matric suction from 2 to 33 kPa suction for both plants. The wheat chlorophyll content index declines during the stress spell but bean chlorophyll content index remains nearly constant. The lowest values of the content of soluble sugars and the highest values of leaf proline content are observed at 2 kPa matric suction (highest aeration stress) for bean and wheat. As matric suction increases from 2 to 6 kPa, the soluble sugars increases and proline content decreases significantly and then soluble sugars decreases and proline content increases until 10 kPa suction, and the soluble sugars remains nearly constant at the higher matric suctions for both plants. While the electrical conductivity effect on the soluble sugars is not significant, the values of proline content for both crop increase significantly with electrical conductivity. It was shown that the aeration stress can result in more considerable and rapid physiological responses, in comparison with salinity stress. There is a strong correlation between wheat and bean chlorophyll content index and potassium concentration under salinity and aeration stresses

Effect of laser priming on canola yield and its components under salt stress

The effect of laser priming at different irradiation times on canola yield and its components under saline conditions were investigated. The results showed that laser priming had a positive effect on yield and its components and caused yield increase under saline conditions. Increase in salt levels had a negative and significant effect on seed yield, number of seeds per pod, number of pod per plant, pod length and plant height. The results showed that 45-min laser priming had the strongest effect on yield and yield components and reduced significantly the adverse effects of salinity.By contrast, laser radiation applied for 60 and 75 min, resulted in a dramatic decrease in yield and its components. Correlation coefficients between the attributes showed that canola yield had a positive and significant correlation with plant height, number of seeds, pod per main branch and lateral branches, length of pod and number of lateral branches. Effects of laser and salinity were significant on lateral branch pod length but not on main branch pods

Evaluation of canola chlorophyll index and leaf nitrogen under wide range of soil moisture

The paper presents a study on the effect of soil matric suction on the variation of leaf chlorophyll index and nitrogen concentration of canola. Results showed that chlorophyll index increases exponentially with soil matric suction, especially at the late season of canola growing time. At moderate matric suction (200 and 300 kPa soil suction heads), chlorophyll index remains nearly constant, but in drier soil (matric suction >300 kPa),chlorophyll index increases gradually with time. Despite the va-riation of the total leaf nitrogen with the soil matric suction, it is similar to the variation of the chlorophyll index, but the results showed that the chlorophyll index – nitrogen concentration curve has a de-marcated bi-modal shape. We suggest that 2.7% of nitrogen and 69.8 of the chlorophyll index value represent the upper limit of the chlorophyll meter reliability for estimation of canola nitrogen under a wide range of soil moisture levels. These results confirm that the chlorophyll meter can be used as an effective tool for rapid and non-destructive estimation of the relative chlorophyll and nitrogen content in canola leaves at a wide range of soil moisture content, except for nearly wilting coefficient or extremely high drought stress