Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families
<div><p>Autism spectrum disorder (ASD) is a neurodevelopmental disease characterized by abnormalities in language and social communication with substantial clinical heterogeneity. Genetic factors play an important role in ASD with heritability estimated between 70% to 80%. Genome-wide as...
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| مؤلفون آخرون: | , , , , , , |
| منشور في: |
2021
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| _version_ | 1864513516821544960 |
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| author | Yasser Al-Sarraj (11721425) |
| author2 | Eman Al-Dous (124700) Rowaida Z. Taha (8854754) Dina Ahram (18508161) Fouad Alshaban (6176771) Mohammed Tolfat (18508164) Hatem El-Shanti (492142) Omar M.E. Albagha (18508167) |
| author2_role | author author author author author author author |
| author_facet | Yasser Al-Sarraj (11721425) Eman Al-Dous (124700) Rowaida Z. Taha (8854754) Dina Ahram (18508161) Fouad Alshaban (6176771) Mohammed Tolfat (18508164) Hatem El-Shanti (492142) Omar M.E. Albagha (18508167) |
| author_role | author |
| dc.creator.none.fl_str_mv | Yasser Al-Sarraj (11721425) Eman Al-Dous (124700) Rowaida Z. Taha (8854754) Dina Ahram (18508161) Fouad Alshaban (6176771) Mohammed Tolfat (18508164) Hatem El-Shanti (492142) Omar M.E. Albagha (18508167) |
| dc.date.none.fl_str_mv | 2021-05-18T03:00:00Z |
| dc.identifier.none.fl_str_mv | 10.3390/genes12050761 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Family-Based_Genome-Wide_Association_Study_of_Autism_Spectrum_Disorder_in_Middle_Eastern_Families/25756245 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics autism spectrum disorder neuropsychiatric disorders genetic genome-wide association family |
| dc.title.none.fl_str_mv | Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <div><p>Autism spectrum disorder (ASD) is a neurodevelopmental disease characterized by abnormalities in language and social communication with substantial clinical heterogeneity. Genetic factors play an important role in ASD with heritability estimated between 70% to 80%. Genome-wide association studies (GWAS) have identified multiple loci associated with ASD. However, most studies were performed on European populations and little is known about the genetic architecture of ASD in Middle Eastern populations. Here, we report the first GWAS of ASD in the Middle eastern population of Qatar. We analyzed 171 families with ASD, using linear mixed models adjusting for relatedness and other confounders. Results showed that common single nucleotide polymorphisms (SNP) in seven loci are associated with ASD (p < 1 × 10−5). Although the identified loci did not reach genome-wide significance, many of the top associated SNPs are located within or near genes that have been implicated in ASD or related neurodevelopmental disorders. These include GORASP2, GABBR2, ANKS6, THSD4, ERCC6L, ARHGEF6, and HDAC8. Additionally, three of the top associated SNPs were significantly associated with gene expression. We also found evidence of association signals in two previously reported ASD-susceptibility loci (rs10099100 and rs4299400). Our results warrant further functional studies and replication to provide further insights into the genetic architecture of ASD.</p><p> </p></div><h2>Other Information</h2> <p> Published in: Genes<br> License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.3390/genes12050761" target="_blank">https://dx.doi.org/10.3390/genes12050761</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_a6e055d9e96d062d097639deacf23ef7 |
| identifier_str_mv | 10.3390/genes12050761 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/25756245 |
| publishDate | 2021 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern FamiliesYasser Al-Sarraj (11721425)Eman Al-Dous (124700)Rowaida Z. Taha (8854754)Dina Ahram (18508161)Fouad Alshaban (6176771)Mohammed Tolfat (18508164)Hatem El-Shanti (492142)Omar M.E. Albagha (18508167)Biological sciencesGeneticsautism spectrum disorderneuropsychiatric disordersgeneticgenome-wide associationfamily<div><p>Autism spectrum disorder (ASD) is a neurodevelopmental disease characterized by abnormalities in language and social communication with substantial clinical heterogeneity. Genetic factors play an important role in ASD with heritability estimated between 70% to 80%. Genome-wide association studies (GWAS) have identified multiple loci associated with ASD. However, most studies were performed on European populations and little is known about the genetic architecture of ASD in Middle Eastern populations. Here, we report the first GWAS of ASD in the Middle eastern population of Qatar. We analyzed 171 families with ASD, using linear mixed models adjusting for relatedness and other confounders. Results showed that common single nucleotide polymorphisms (SNP) in seven loci are associated with ASD (p < 1 × 10−5). Although the identified loci did not reach genome-wide significance, many of the top associated SNPs are located within or near genes that have been implicated in ASD or related neurodevelopmental disorders. These include GORASP2, GABBR2, ANKS6, THSD4, ERCC6L, ARHGEF6, and HDAC8. Additionally, three of the top associated SNPs were significantly associated with gene expression. We also found evidence of association signals in two previously reported ASD-susceptibility loci (rs10099100 and rs4299400). Our results warrant further functional studies and replication to provide further insights into the genetic architecture of ASD.</p><p> </p></div><h2>Other Information</h2> <p> Published in: Genes<br> License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.3390/genes12050761" target="_blank">https://dx.doi.org/10.3390/genes12050761</a></p>2021-05-18T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.3390/genes12050761https://figshare.com/articles/journal_contribution/Family-Based_Genome-Wide_Association_Study_of_Autism_Spectrum_Disorder_in_Middle_Eastern_Families/25756245CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/257562452021-05-18T03:00:00Z |
| spellingShingle | Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families Yasser Al-Sarraj (11721425) Biological sciences Genetics autism spectrum disorder neuropsychiatric disorders genetic genome-wide association family |
| status_str | publishedVersion |
| title | Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families |
| title_full | Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families |
| title_fullStr | Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families |
| title_full_unstemmed | Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families |
| title_short | Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families |
| title_sort | Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families |
| topic | Biological sciences Genetics autism spectrum disorder neuropsychiatric disorders genetic genome-wide association family |