Genetic linkage analysis of DFNB39 locus in families with autosomal recessive non-syndromic hearing loss (ARNSHL) from Khuzestan province

Background and aims: Hearing loss (HL) is a most common sensory deficit in humans and approximately one in 1,000 newborns has severe-to-profound HL. About 50% of HL cases are inherited and approximately 70 percent of HL cases are Non-syndromic that about 80 percent of this type of HL is inherited in recessive manner (ARNSHL). This is a heterogeneous disease and its prevalence is higher in developing countries. In Iran due to high rate of consanguinity has high frequency, too. The purpose of the present study was to investigate genetic linkage analysis of DFNB39 locus in families with autosomal recessive nonsyndromic HL from Khuzestan province. Methods: In this descriptive laboratory study, to determine type and frequency of HGF mutations 300 individuals of 25 families from Khuzestan province with autosomal recessive nonsyndromic hearing loss were examined. Selected families in this study had consanguinity and had at least 2 patients and also they were negative for GJB2 gene mutations. Linkage analysis was performed by 6 markers STR (Short tandem repeats) which were located in or were tightly linked to DFNB39 locus conventional PCR and PAGE. Results: After examining different families, it was revealed non of the families did not show linkage to the DFNB39 locus. Lack of HGF gene mutations in mentioned family suggests that the HGF's mutations probably have no role in causing HL in the studied families. Conclusion: Based on the results of this study, DFNB39 locus may not be important role in causing hearing loss of population studied. However, further studies are necessary to determine more precisely the role of this locus in hearing loss in Iranian population

Genetic linkage analysis of the DFNB48 and DFNB98 loci in families with Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) from Khouzestan province

Background and aims: Hearing loss, a sensorineural disorder, is one of the most common congenital impairments, occurring in approximately 1 in 500 newborns. Hearing loss is a highly heterogenic disease and half of the cases of deafness are attributed to genetic causes; environmental and unknown factors account for the remainder. Non-syndromic type forms 70% of hearing loss cases. Pattern of inheritance of nearly 80% of this type of HL is recessive autosomal. Iranian population provides a valuable genetic resource to study this kind of HL because of high ratio of consanguinity. In this study, genetic linkage of DFNB48 (CIB2) and DFNB98 (TSPEAR) is investigated in families with ARNSHL impairment from Khouzestan province. Methods: In this descriptive study 300 individuals of 25 families with hearing loss were examined in order to determine type and frequency of mutation of DFNB48 and DFNB98 loci in Khouzestan province. Families' selection had some criteria. Families with healthy parents, consanguineous marriage and negative result for mutations of GJB2 gene with at least two affected individuals were selected. 3 families which were detected positive for mutations of GJB2 gene were excluded from study. Linkage analysis was done for 22 families by using six STR markers which were located in or were tightly linked to each locus. Results: None of these families inspected by linkage analysis was linked to the DFNB48 or DFNB98 loci. Conclusion: Considering these results it seems that CIB2 and TSPEAR genes mutations have not important roles in hearing loss in Khouzestan province

A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

BACKGROUND AND AIMS: Hearing loss (HL) is the most common sensorineural disorder and one of the most common human defects. HL can be classified according to main criteria, including: the site (conductive, sensorineural and mixed), onset (pre-lingual and post-lingual), accompanying signs and symptoms (syndromic and non-syndromic), severity (mild, moderate, severe and profound) and mode of inheritance (Autosomal recessive, autosomal dominant, X-linked and mitochondrial). Autosomal recessive non-syndromic HL (ARNSHL) forms constitute a major share of the HL cases. In the present study, next-generation sequencing (NGS) was applied to investigate the underlying etiology of HL in a multiplex ARNSHL family from Khuzestan province, southwest Iran. METHODS: In this descriptive study, 20 multiplex ARNSHL families from Khuzestan province, southwest of Iran were recruited. After DNA extraction, genetic linkage analysis (GLA) was applied to screen for a panel of more prevalent loci. One family, which was not linked to these loci, was subjected to Otogenetics deafness Next Generation Sequencing (NGS) panel. RESULTS: NGS results showed a novel deletion-insertion variant (c.1555delinsAA) in the MARVELD2 gene. The variant which is a frameshift in the seventh exon of the MARVELD2 gene fulfills the criteria of being categorized as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guideline. CONCLUSION: NGS is very promising to identify the molecular etiology of highly heterogeneous diseases such as HL. MARVELD2 might be important in the etiology of HL in this region of Iran

Genomic prediction for growth using a low-density SNP panel in dromedary camels

For thousands of years, camels have produced meat, milk, and fiber in harsh desert conditions. For a sustainable development to provide protein resources from desert areas, it is necessary to pay attention to genetic improvement in camel breeding. By using genotyping-by-sequencing (GBS) method we produced over 14,500 genome wide markers to conduct a genome- wide association study (GWAS) for investigating the birth weight, daily gain, and body weight of 96 dromedaries in the Iranian central desert. A total of 99 SNPs were associated with birth weight, daily gain, and body weight (p-value \u3c 0.002). Genomic breeding values (GEBVs) were estimated with the BGLR package using (i) all 14,522 SNPs and (ii) the 99 SNPs by GWAS. Twenty-eight SNPs were associated with birth weight, daily gain, and body weight (p-value \u3c 0.001). Annotation of the genomic region (s) within ± 100 kb of the associated SNPs facilitated prediction of 36 candidate genes. The accuracy of GEBVs was more than 0.65 based on all 14,522 SNPs, but the regression coefficients for birth weight, daily gain, and body weight were 0.39, 0.20, and 0.23, respectively. Because of low sample size, the GEBVs were predicted using the associated SNPs from GWAS. The accuracy of GEBVs based on the 99 associated SNPs was 0.62, 0.82, and 0.57 for birth weight, daily gain, and body weight. This report is the first GWAS using GBS on dromedary camels and identifies markers associated with growth traits that could help to plan breeding program to genetic improvement. Further researches using larger sample size and collaboration of the camel farmers and more profound understanding will permit verification of the associated SNPs identified in this project. The preliminary results of study show that genomic selection could be the appropriate way to genetic improvement of body weight in dromedary camels, which is challenging due to a long generation interval, seasonal reproduction, and lack of records and pedigrees

Genomic prediction for growth using a low-density SNP panel in dromedary camels

For thousands of years, camels have produced meat, milk, and fiber in harsh desert conditions. For a sustainable development to provide protein resources from desert areas, it is necessary to pay attention to genetic improvement in camel breeding. By using genotyping-by-sequencing (GBS) method we produced over 14,500 genome wide markers to conduct a genome- wide association study (GWAS) for investigating the birth weight, daily gain, and body weight of 96 dromedaries in the Iranian central desert. A total of 99 SNPs were associated with birth weight, daily gain, and body weight (p-value \u3c 0.002). Genomic breeding values (GEBVs) were estimated with the BGLR package using (i) all 14,522 SNPs and (ii) the 99 SNPs by GWAS. Twenty-eight SNPs were associated with birth weight, daily gain, and body weight (p-value \u3c 0.001). Annotation of the genomic region (s) within ± 100 kb of the associated SNPs facilitated prediction of 36 candidate genes. The accuracy of GEBVs was more than 0.65 based on all 14,522 SNPs, but the regression coefficients for birth weight, daily gain, and body weight were 0.39, 0.20, and 0.23, respectively. Because of low sample size, the GEBVs were predicted using the associated SNPs from GWAS. The accuracy of GEBVs based on the 99 associated SNPs was 0.62, 0.82, and 0.57 for birth weight, daily gain, and body weight. This report is the first GWAS using GBS on dromedary camels and identifies markers associated with growth traits that could help to plan breeding program to genetic improvement. Further researches using larger sample size and collaboration of the camel farmers and more profound understanding will permit verification of the associated SNPs identified in this project. The preliminary results of study show that genomic selection could be the appropriate way to genetic improvement of body weight in dromedary camels, which is challenging due to a long generation interval, seasonal reproduction, and lack of records and pedigrees

Community-Based Counseling Intervention for Depression and Psychological Well-being in the Elderly: A pilot quasi-experimental study

Background: It has been established that active aging should be a policy objective for aging societies. Objective: the present study aimed to test the feasibility and effectiveness of a community-based counseling intervention for active aging. Materials & Methods: The current quasi-experimental study was conducted on all elderly men who were referred to Salmandan park, the southern side of Zayandeh Rood Bastar Park between the Khajo and Bozorgmehr bridges of Isfahan, Iran in 2022. A total of 30 people were selected through the convenience sampling method. The experimental group (n=15) received eight sessions (60 minutes sessions per week) of Community-based counseling intervention, while the control group (n=15) did not receive any training. Data were collected by Ryff's Psychological Well-Being Scale (PWB) and Geriatric Depression Scale (GDS). Results: Active aging protocol was effective in psychological well-being (F1,28=19.52; P<0.001, η2=0.764) and depression (F1,28=20.36; P<0.001, η2=0.791).  Conclusion: The findings revealed that the community-based counseling approach improved depression and psychological well-being in the elderly. Increasing evidence suggests that any meaningful activity is beneficial for different aspects of well-being in older people

Psychological Empowerment Model in Iranian Pregnant Women

Background: Women’s empowerment programs during pregnancy focus primarily on increasing women’s health goals and psychological empowerment has been considered important in most issues related to pregnant mothers’ mental health. Using path analysis, this study aims to examine the direct and indirect components of psychological empowerment of pregnant mothers. Methods: This model-testing study was conducted in Gorgan, northwest of Iran during three months in spring of 2015. Through random cluster sampling, a total number of 160 pregnant women were selected from 10 urban medical centers and clinics as primary centers. We used Spritzer’s Psychological empowerment scale. Suitable sampling based on Nunally and Bernstein was followed in the model. The relationships between the dependent variables were then examined by means of path analysis using Amos 18. Results: The psychological empowerment of pregnant mothers (PEPW) model is impacted by individual factors, such as marriage age and employment, including some subjectively rated factors such as marital satisfaction and experience of violence. The PEPW model was deemed appropriate as optimum conditions indicators of goodness of fit; low index of χ2/df shows little difference between the conceptual model and observed data, while RMSEA value indicated the goodness of fit. Other indicators such as CMIN=0.957, CMIN/DF=0.957, P-CLOSE=0.418, χ2=0.957 and probability level=0.328 the fact that the model is ideal. The mothers’ employment had the highest coefficient in the PEPW path model .731 (0.443, 0.965) bootstrap confidence intervals by 95%, and with a p-value of less than 0.05. Conclusions: The mothers’ employment is the most important factor in psychological empowerment, but it cannot be addressed quickly. Programming to increase marital satisfaction followed by a decrease in family violence and prevention of early marriage are necessary for promotion of psychological empowerment during pregnancy

Predictors of Prenatal Empowerment Among Iranian Pregnant Women

Introduction: Considering that empowering expectant mothers is an important issue to maintain a healthy pregnancy, this study was conducted to evaluate the predictors of empowerment among Iranian pregnant women. Methods: This cross sectional study was conducted in Golestan, North of Iran in 2015. A total number of 161 pregnant women were selected through random cluster sampling from urban health centers, using PASS software. The socio-political, educational, and mental-financial predictors of empowerment were measured using a self- structured questionnaire during pregnancy and was analyzed by a linear regression model using SPSS version 16. Results: The findings of linear regression showed that educational dimension of empowerment had the highest coefficient in the regression model, on total empowerment (βeta standardized coefficient [β]=0.696 with DW=1.830 and means error=0). The total empowerment score of pregnant women was controlled by individual factors such as the age of marriage (β-0.228), employment (β-0.210), and educational factors such as participation in prenatal education classes (β-0.246), and moral issues such as sense of spiritual support (β-0.217). Conclusion: By recognizing and observing predictors of empowerment during pregnancy, health care providers can increase women's power over their pregnancy. Educational predictors of empowerment were the most important factors to empower women during pregnancy. The objective of childbirth education classes, therefore, should shift from simply giving information to women, towards giving them appropriate knowledge in order to provide them with empowerment during pregnancy

Investigating the association between common DRD2/ANKK1 genetic polymorphisms and schizophrenia: a meta-analysis

Genetic factors play an important role in the pathogenesis of schizophrenia. Dysregulations in the dopaminergic system have long been known to play an influential role in the development of this disorder. Although a large number of studies have investigated the association between genetic polymorphisms in the genes involved in this system and the risk of schizophrenia, the results have been inconsistent. In this meta-analysis, we searched for publications in Ovid Medline, Embase, Web of Science (science citation index expanded), and PsycNET for articles published until January 2020. We identified case–control studies investigating the association between four common genetic polymorphisms (rs6277, rs1799732, rs1800497, and rs1801028) and the risk of schizophrenia. The studies were subsequently selected according to the predefined inclusion and exclusion criteria. The data extraction was conducted according to the PRISMA guidelines. We also assessed the quality of the studies and investigated publication bias using funnel plot and Egger’s regression test. The association analysis was conducted in allelic, dominant, and recessive genetic models. Subsequently, bioinformatics analysis of the effect of the polymorphisms found to be significantly associated with schizophrenia on protein stability, posttranslational modifications, and 3D protein structure was conducted. This meta-analysis showed that Taq1A (allelic model: OR, 0.856, 95% CI, 0.734–0.998) has a protective effect against the development of schizophrenia. Further, it was found that this variant may decrease ANKK1 protein stability. Further, this polymorphism was found to lead to the gain of modifications sites for ubiquitination (Ubi. score = −1.894) and methylation (Meth. score = −0.834). Several genetic factors contribute to the susceptibility of schizophrenia. The updated knowledge emerging from this meta-analysis showing the protective effect of rs1800497 polymorphism (Taq1A) can shed light on the role of Taq1A polymorphism in the susceptibility to schizophrenia and also pave way for further functional studies investigating the role of ANKK1 protein in the pathogenesis of schizophrenia

A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

Background and aims: Hearing loss (HL) is the most common sensorineural disorder and one of the most common human defects. HL can be classified according to main criteria, including: the site (conductive, sensorineural and mixed), onset (pre-lingual and post-lingual), accompanying signs and symptoms (syndromic and non-syndromic), severity (mild, moderate, severe and profound) and mode of inheritance (Autosomal recessive, autosomal dominant, X-linked and mitochondrial). Autosomal recessive non-syndromic HL (ARNSHL) forms constitute a major share of the HL cases. In the present study, next-generation sequencing (NGS) was applied to investigate the underlying etiology of HL in a multiplex ARNSHL family from Khuzestan province, southwest Iran. Methods: In this descriptive study, 20 multiplex ARNSHL families from Khuzestan province, southwest of Iran were recruited. After DNA extraction, genetic linkage analysis (GLA) was applied to screen for a panel of more prevalent loci. One family, which was not linked to these loci, was subjected to Otogenetics deafness Next Generation Sequencing (NGS) panel. Results: NGS results showed a novel deletion-insertion variant (c.1555delinsAA) in the MARVELD2 gene. The variant which is a frameshift in the seventh exon of the MARVELD2 gene fulfills the criteria of being categorized as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guideline. Conclusion: NGS is very promising to identify the molecular etiology of highly heterogeneous diseases such as HL. MARVELD2 might be important in the etiology of HL in this region of Iran. Keywords: ARNSHL; DFNB loci; Genetic linkage analysis; NGS