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  1. Article ; Online: The importance of examining the Hardy-Weinberg Equilibrium in genetic association studies.

    Saadat, Mostafa

    Molecular biology research communications

    2024  Volume 13, Issue 1, Page(s) 1–2

    Language English
    Publishing date 2024-01-01
    Publishing country Iran
    Document type Editorial
    ISSN 2345-2005
    ISSN (online) 2345-2005
    DOI 10.22099/mbrc.2023.48386.1872
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Evaluation of Hardy-Weinberg equilibrium in genetic association studies.

    Saadat, Mostafa

    International journal of immunogenetics

    2024  

    Abstract: STrengthening the REporting of Genetic Association (STREGA) studies strongly recommend that researchers assess the Hardy-Weinberg equilibrium (HWE) in their control groups. The exact frequency of studies in which their control subjects show a significant ...

    Abstract STrengthening the REporting of Genetic Association (STREGA) studies strongly recommend that researchers assess the Hardy-Weinberg equilibrium (HWE) in their control groups. The exact frequency of studies in which their control subjects show a significant deviation from the HWE is not well established. Therefore, the present study was conducted. The electronic database PubMed was searched using the terms: 'meta-analysis' and 'polymorphism'. Data of original articles were extracted from meta-analysis. The STREGA statement was published in 2009. Therefore, studies were divided into two groups, before and after the statement. After data collection, quartiles for sample size and minor allele frequency (MAF) were determined separately. A total of 772 independent studies were extracted from these meta-analyses and included in the current study. Multivariate analysis revealed the following associations: (1) Reports published after the STREGA statement (compared to before the statement) were associated with an increased prevalence of deviation from HWE. (2) Reports with sample size Q2-Q4 versus Q1 were associated with an increased prevalence of deviation from HWE. (3) Studies with MAF Q4 versus Q1 were negatively associated with the prevalence of reports of deviation from HWE. We conclude that the STREGA statement failed to change the attitudes and practices of researchers and editors towards the importance of HWE.
    Language English
    Publishing date 2024-03-20
    Publishing country England
    Document type Journal Article
    ZDB-ID 2177883-8
    ISSN 1744-313X ; 1744-3121
    ISSN (online) 1744-313X
    ISSN 1744-3121
    DOI 10.1111/iji.12668
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Chromosomal Distribution of Ankylosing Spondylitis Susceptibility Loci.

    Saadat, Mostafa

    Mediterranean journal of rheumatology

    2023  Volume 34, Issue 2, Page(s) 159–162

    Abstract: Objectives: Previous studies have been indicated that susceptible loci of several multifactorial diseases were non-randomly distributed on human genome. There is no published data on chromosomal distribution of genes associated with risk of ankylosing ... ...

    Abstract Objectives: Previous studies have been indicated that susceptible loci of several multifactorial diseases were non-randomly distributed on human genome. There is no published data on chromosomal distribution of genes associated with risk of ankylosing spondylitis. Therefore, the present study was carried out.
    Methods: Published meta-analyses indexed in the PubMed database were used in the present study. Non-randomness chromosomal distribution of these loci was evaluated by the statistical method of Tai et al.
    Results: A total of 88 articles were obtained. There was 32 ankylosing spondylitis associated genes. The present study revealed that the human chromosome segments 6p11.2-p21.33, 19q13.2-q13.42, and 2q11.2-q14.1 were ankylosing spondylitis associated-rich regions by bearing 7, 6 and 4 susceptible loci, respectively.
    Conclusion: Ankylosing spondylitis associated-genes non-randomly have been distributed non-randomly on human chromosomes.
    Language English
    Publishing date 2023-06-30
    Publishing country Greece
    Document type Journal Article
    ZDB-ID 3019943-8
    ISSN 2529-198X ; 2459-3516
    ISSN (online) 2529-198X
    ISSN 2459-3516
    DOI 10.31138/mjr.34.2.159
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Enrichment analysis and chromosomal distribution of gout susceptible loci identified by genome-wide association studies.

    Saadat, Mostafa

    EXCLI journal

    2023  Volume 22, Page(s) 1146–1154

    Abstract: Gout is an inherited and common inflammatory arthritic disease. Many researchers will identify polymorphic loci of gout susceptibility by conducting genome-wide association studies (GWAS). In the present study, the enrichment analysis and chromosomal ... ...

    Abstract Gout is an inherited and common inflammatory arthritic disease. Many researchers will identify polymorphic loci of gout susceptibility by conducting genome-wide association studies (GWAS). In the present study, the enrichment analysis and chromosomal distribution were performed using predicted polymorphic loci associated with gout risk. The polymorphic loci associated to gout were obtained from the GWAS database. Overall, this database contains 64,806 gout patients and 2,856,174 controls. Gene ontology functional annotation and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis were performed by using the Enrichr online server. A total of 110 common polymorphic protein-coding loci associated with gout risk were identified and included in the analysis. The results of the KEGG analysis showed that the gout-associated loci were mainly related to ABC transporters, endocrine and other factor-regulated calcium reabsorption, and gastric acid secretion pathways. The gene ontology analysis showed that the biological processes of the gout-associated loci were vascular transport, transport across the blood-brain barrier, positive regulation of transporter activity, and positive regulation of transcription by RNA polymerase II. The top cellular component was the external side of the apical plasma membrane. Statistical analysis revealed that the human chromosome segments 1q22, 4p16.1, 6p21.1-p21.2, 11q13.1-q13.2, 12q13.11-q13.3, and 12q24.1 had significantly bearing higher numbers of gout susceptibility loci.
    Language English
    Publishing date 2023-11-14
    Publishing country Germany
    Document type Journal Article
    ISSN 1611-2156
    ISSN 1611-2156
    DOI 10.17179/excli2023-6481
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Distribution of preeclampsia-related genes on human chromosomes.

    Saadat, Mostafa

    Taiwanese journal of obstetrics & gynecology

    2022  Volume 61, Issue 5, Page(s) 909–910

    MeSH term(s) Chromosomes, Human ; Female ; Genetic Predisposition to Disease ; Humans ; Pre-Eclampsia/genetics ; Pregnancy
    Language English
    Publishing date 2022-07-14
    Publishing country China (Republic : 1949- )
    Document type Journal Article
    ZDB-ID 2202946-1
    ISSN 1875-6263 ; 1875-6263
    ISSN (online) 1875-6263
    ISSN 1875-6263
    DOI 10.1016/j.tjog.2021.11.041
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Morbidity and mortality of COVID-19 negatively associated with the frequency of consanguineous marriages, an ecologic study.

    Saadat, Mostafa

    The Egyptian journal of medical human genetics

    2022  Volume 23, Issue 1, Page(s) 8

    Abstract: Background: Union between second cousins and closer relatives is called consanguineous marriage. Consanguineous marriage is associated with increased risk of autosomal recessive diseases and several multifactorial traits. In order to evaluate the ... ...

    Abstract Background: Union between second cousins and closer relatives is called consanguineous marriage. Consanguineous marriage is associated with increased risk of autosomal recessive diseases and several multifactorial traits. In order to evaluate the association between prevalence/mortality of COVID-19 and the frequency of consanguineous marriage, the present ecologic study was carried out. For the present study, data of prevalence (per 10
    Results: Univariable correlation and generalized estimating equation analysis were used. In analysis, prevalence and mortality of COVID-19 were used as dependent variables and human development index, number of performed diagnosis test and the mean of inbreeding coefficient (α-value) were introduced into model as covariates, and time point was used as a factor in analysis. The square root (SR) of prevalence (
    Conclusions: The present finding means that in countries with high levels of consanguineous marriages, the prevalence of COVID-19 and mortality due to COVID-19 were lower than countries having low level of marriage with relatives.
    Language English
    Publishing date 2022-01-21
    Publishing country Egypt
    Document type Journal Article
    ZDB-ID 2515357-2
    ISSN 2090-2441 ; 2090-2441
    ISSN (online) 2090-2441
    ISSN 2090-2441
    DOI 10.1186/s43042-022-00218-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Prevalence and mortality of COVID-19 are associated with the L55M functional polymorphism of Paraoxonase 1

    Mostafa Saadat

    Proceedings of Singapore Healthcare, Vol

    2022  Volume 31

    Abstract: Introduction Accumulating evidence recommends that infectious diseases including coronavirus disease 2019 (COVID-19) are often associated with oxidative stress and inflammation. Paraoxonase 1 ( PON1 , OMIM: 168,820), a member of the paraoxonase gene ... ...

    Abstract Introduction Accumulating evidence recommends that infectious diseases including coronavirus disease 2019 (COVID-19) are often associated with oxidative stress and inflammation. Paraoxonase 1 ( PON1 , OMIM: 168,820), a member of the paraoxonase gene family, has antioxidant properties. Enzyme activity of paraoxonase depends on a variety of influencing factors such as polymorphisms of PON1 , ethnicity, gender, age, and a number of environmental variables. The PON1 has two common functional polymorphisms, namely, Q192R (rs662) and L55M (rs854560). The R192 and M55 alleles are associated with increase and decrease in enzyme activity, respectively. Objective The present study was conducted to investigate the possible association of rs662 and rs854560 polymorphisms with morbidity and mortality of COVID-19. Methods Data for the prevalence, mortality, and amount of accomplished diagnostic test (per 10 6 people) on 25 November 2020 from 48 countries were included in the present study. The Human Development Index (HDI) was used as a potential confounding variable. Results The frequency of M55 was positively correlated with the prevalence (partial r = 0.487, df = 36, p = 0.002) and mortality of COVID-19 (partial r = 0.551, df = 36, p < 0.001), after adjustments for HDI and amount of the accomplished diagnostic test as possible confounders. Conclusions This means that countries with higher M55 frequency have higher prevalence and mortality of COVID-19.
    Keywords Medicine ; R
    Subject code 310
    Language English
    Publishing date 2022-06-01T00:00:00Z
    Publisher SAGE Publishing
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  8. Article ; Online: Morbidity and mortality of COVID-19 negatively associated with the frequency of consanguineous marriages, an ecologic study

    Mostafa Saadat

    Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-

    2022  Volume 6

    Abstract: Abstract Background Union between second cousins and closer relatives is called consanguineous marriage. Consanguineous marriage is associated with increased risk of autosomal recessive diseases and several multifactorial traits. In order to evaluate the ...

    Abstract Abstract Background Union between second cousins and closer relatives is called consanguineous marriage. Consanguineous marriage is associated with increased risk of autosomal recessive diseases and several multifactorial traits. In order to evaluate the association between prevalence/mortality of COVID-19 and the frequency of consanguineous marriage, the present ecologic study was carried out. For the present study, data of prevalence (per 106 people) and mortality (per 106 people) and number of performed laboratory diagnostic test (per 106 people) of COVID-19 disease at four time points (December 2020; March, August and October 2021) of 65 countries were used. Results Univariable correlation and generalized estimating equation analysis were used. In analysis, prevalence and mortality of COVID-19 were used as dependent variables and human development index, number of performed diagnosis test and the mean of inbreeding coefficient (α-value) were introduced into model as covariates, and time point was used as a factor in analysis. The square root (SR) of prevalence (P = 0.008) and SR-mortality (P < 0.001) of COVID-19 negatively associated with the log-transformed of α-value. Conclusions The present finding means that in countries with high levels of consanguineous marriages, the prevalence of COVID-19 and mortality due to COVID-19 were lower than countries having low level of marriage with relatives.
    Keywords Consanguineous marriage ; COVID-19 ; Ecologic study ; Medicine (General) ; R5-920 ; Genetics ; QH426-470
    Subject code 310
    Language English
    Publishing date 2022-01-01T00:00:00Z
    Publisher SpringerOpen
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  9. Article ; Online: Sex ratio at birth in COVID-19 era

    Mostafa Saadat

    EXCLI Journal : Experimental and Clinical Sciences, Vol 20, Pp 1499-

    2021  Volume 1501

    Keywords sex ratio ; covid-19 ; iran ; Neoplasms. Tumors. Oncology. Including cancer and carcinogens ; RC254-282 ; Biology (General) ; QH301-705.5
    Language English
    Publishing date 2021-10-01T00:00:00Z
    Publisher IfADo - Leibniz Research Centre for Working Environment and Human Factors, Dortmund
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article ; Online: Evaluation of associations of GSTM1/GSTT1 null genotypes with the susceptibility to age-related macular degeneration

    Saadat Mostafa

    Scripta Medica, Vol 52, Iss 1, Pp 38-

    A meta-analysis

    2021  Volume 41

    Abstract: Background: The relationship between glutathione S-transferase M1 (GSTM1) and T1 (GSTT1) null genotypes (homozygotes for the null alleles) and the susceptibility to age-related macular degeneration (ARMD) have been reported and revealed inconsistent ... ...

    Abstract Background: The relationship between glutathione S-transferase M1 (GSTM1) and T1 (GSTT1) null genotypes (homozygotes for the null alleles) and the susceptibility to age-related macular degeneration (ARMD) have been reported and revealed inconsistent results. Therefore, the current meta-analysis was carried out. Methods: Eligible published articles (before December 2020) were found by searching 8 databases. The data was extracted from articles. The heterogeneity across studies was estimated using Q and I 2 statistics and the odds ratios (ORs) and its 95 % confidence intervals (95 % CI) were estimated. Results: In total, 6 independent studies including 1089 participants (634 controls and 455 patients) were used in the current study. There was no heterogeneity between studies for both polymorphisms. Statistical analysis showed that the null genotypes of the GSTM1 (OR = 1.18, 95 % CI: 0.91 - 1.53, p = 0.191) and GSTT1 (OR = 0.84, 95 % CI: 0.60 - 1.18, p = 0.328) loci were not correlated with the susceptibility to ARMD. Conclusion: The GSTT1 and GSTM1 genetic polymorphisms did not associated with the risk of ARMD in Caucasian populations.
    Keywords gstm1 ; gstt1 ; age-related macular degeneration ; meta-analysis ; Medicine ; R
    Language English
    Publishing date 2021-01-01T00:00:00Z
    Publisher Medical Society of the Republic of Srpska, Banja Luka, University of Banja Luka. Faculty of Medicine
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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