Molecular Screening of <i>VAX1</i> Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients

Hj, Sabbagh; Innes, Nicola; S, Edris Ahmed; Butali, Azeez; Ea, Alnamnakani; Sm, Rabah; Ma, Hamdan; Nh, Alhamlan; Fd, Abdulhameed; Mha, Hassan; Hb, Al Mahdi; Alamoudi, NM; Jy, Al-Aama; Sm, Alaki; Pa, Mossey

doi:10.1089/gtmb.2018.0207

Cited by 6 publications

(4 citation statements)

References 11 publications

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“…Han Chinese population, and Polish population (Mostowska et al, 2012;Sabbagh et al, 2019;Wang et al, 2020;Zawiślak et al, 2014;Zhang et al, 2018), is on the list as expected. Not only do the SNPs identified in this study correspond to previously popular SNPs, but they have also been subjected to secondary verification with a significant p-value, indicating that our findings are highly credible.…”

Section: Discussionsupporting

confidence: 62%

“…All the 6 SNPs passed the large sample replication. Rs7078160, which was previously identified as a candidate SNP for NSCL/P through GWAS and following replication studies in Saudi Arabian Population, Western Han Chinese population, and Polish population (Mostowska et al, 2012; Sabbagh et al, 2019; Wang et al, 2020; Zawiślak et al, 2014; Zhang et al, 2018), is on the list as expected. Not only do the SNPs identified in this study correspond to previously popular SNPs, but they have also been subjected to secondary verification with a significant p ‐value, indicating that our findings are highly credible.…”

Section: Discussionmentioning

confidence: 68%

“…In order to investigate the missing heritability, additional strategies for generating new genetic data should be employed. In this study, we performed in‐depth screening of susceptibility SNPs on the VAX1 gene, a previously identified NSCL/P associated gene (Butali et al, 2019; Figueiredo et al, 2014; Sabbagh et al, 2019), by target sequencing (Leslie et al, 2015; Rudakou et al, 2020). Initially, we intended to investigate common and rare disease‐related variants using association analysis and burden testing, respectively.…”

Section: Discussionmentioning

confidence: 99%

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Target sequencing reveals the association between variants inVAX1and NSCL/P in Chinese population

You

Shi

et al. 2022

Oral Diseases

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Objective A significant genetic association between rs7078160 in VAX1 and NSCL/P has been established through genome‐wide association studies (GWAS), and we previously replicated the association in the Chinese population. The critical issue in the post‐GWAS era is to identify functional variations that have a real impact on disease in the susceptible regions highlighted by GWAS. This study aimed to elucidate functional variants in VAX1 fully. Materials and Methods Firstly, target sequencing was performed on 159 NSCL/P patients, followed by association analysis to discover disease‐associated single‐nucleotide polymorphisms (SNPs); we then replicated the findings using a larger sample (1626 cases, 2255 controls) and investigated how candidate SNPs affect disease occurrence using extensive annotation databases. Additionally, we compared the genetic profiles of NSCL/P subtypes. Results In this study, 6 SNPs in VAX1 were identified to be associated with NSCL/P in the Western Han Chinese population. Five of them were predicted to influence transcriptional factor‐biding ability and were expression quantitative trait loci (eQTLs) of nearby genes in multiple tissues. Conclusion The previously reported association between rs7078160 and NSCL/P was successfully replicated. Moreover, our findings firstly revealed that 5 SNPs in VAX1 are associated with NSCL/P in the Western Han Chinese population. Level of Evidence Original Reports.

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Section: Discussionsupporting

confidence: 62%

Section: Discussionmentioning

confidence: 68%

Section: Discussionmentioning

confidence: 99%

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Target sequencing reveals the association between variants inVAX1and NSCL/P in Chinese population

You

Shi

et al. 2022

Oral Diseases

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“…Many factors contribute to NSOFC including genetics [ 6 – 9 ], which plays a main role in the development of NSOFC, environmental, and stress-environmental interaction risk factors [ 10 ]. The interaction of these factors and their relation with NSOFC etiology is complex.…”

Section: Introductionmentioning

confidence: 99%

COVID-19 related risk factors and their association with non-syndromic orofacial clefts in five Arab countries: a case-control study

et al. 2023

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Background The environmental etiology of non-syndromic orofacial clefts (NSOFCs) is still under research. The aim of this case-control study is to assess COVID-19 associated factors that may be related to the risk of NSOFC in five Arab countries. These factors include COVID-19 infection, COVID-19 symptoms, family member or friends infected with COVID-19, stress, smoking, socioeconomic status and fear of COVID-19. Methods The study took place in governmental hospitals in five Arab countries from November 2020 to November 2021. Controls are matched in the month of delivery and site of recruitment. A clinical examination was carried out using LASHAL classification. Maternal exposure to medication, illnesses, supplementation, COVID-19 infection during their pregestation and 1st trimester periods were evaluated using a validated questionnaire. Maternal exposure to stress was assessed using the Life Events scale, fear of covid-19 scale, family member or friend affected with covid-19 infection, pregnancy planning and threatened abortion. Results The study recruited 1135 infants (386 NSOFC and 749 controls). Living in urban areas, maternal exposure to medications 3-months pregestation, maternal exposure to any of the prenatal life events and maternal fear of COVID-19 significantly increased the risk of having a child with NSOFC. On the other hand, mothers exposed to supplementation 3-months pregestation, mothers suspected of having COVID-19 infection, family members or friends testing positive with COVID-19 significantly decreased the risk of having a child with NSOFC. Conclusions This study suggests that NSOFC may be associated with maternal exposure to lifetime stress and COVID-19 fear in particular, with no direct effect of the COVID-19 infection itself. This highlights the importance of providing psychological support for expecting mothers during stressful events that affect populations such as the COVID-19 pandemic, in addition to the usual antenatal care.

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Identification of Causative Variants Contributing to Nonsyndromic Orofacial Clefts Using Whole-Exome Sequencing in a Saudi Family

Mahdi

Edris

Bahieldin

et al. 2020

Genetic Testing and Molecular Biomarkers

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Molecular Screening of VAX1 Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients

Cited by 6 publications

References 11 publications

Target sequencing reveals the association between variants inVAX1and NSCL/P in Chinese population

Target sequencing reveals the association between variants inVAX1and NSCL/P in Chinese population

COVID-19 related risk factors and their association with non-syndromic orofacial clefts in five Arab countries: a case-control study

Identification of Causative Variants Contributing to Nonsyndromic Orofacial Clefts Using Whole-Exome Sequencing in a Saudi Family

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