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The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability / Sherlly XIE in Autism Research, 13-12 (December 2020)
[article]
Titre : The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability Type de document : Texte imprimé et/ou numérique Auteurs : Sherlly XIE, Auteur ; Håkan KARLSSON, Auteur ; Christina DALMAN, Auteur ; Linnea WIDMAN, Auteur ; Dheeraj RAI, Auteur ; Renee M. GARDNER, Auteur ; Cecilia MAGNUSSON, Auteur ; Sven SANDIN, Auteur ; Loni P. TABB, Auteur ; Craig J. NEWSCHAFFER, Auteur ; Brian K. LEE, Auteur Article en page(s) : p.2242-2250 Langues : Anglais (eng) Mots-clés : autism spectrum disorders familial risk family study heritability intellectual disability Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well understood. In this population-based cohort study, we examined the familial risk and heritability of ASD with and without co-occurring intellectual disability (ID). We estimated odds ratios and heritability of ASD with ID (ASD+ID) and ASD without ID (ASD-ID) using register-based diagnosis data of 567,436 index persons born in 1984-2009 in Stockholm County, Sweden, and their parents, siblings, cousins, aunts, and uncles. The familial risk profile exhibited differences between ASD-ID and ASD+ID, most notably for index persons with affected parents. For example, for an index person who had at least one parent with ASD, the child's odds of ASD-ID and ASD+ID (95% confidence interval (CI)) increased by 16.2 (14.2-18.6) and 7.4 (5.5-10.0) folds, respectively. The more closely related a family member with ASD was, the greater the observed risk was of ASD in the index person, especially for ASD-ID. The broad-sense heritability (95% CI) for ASD?-?ID and ASD+ID were 64.6% (46.0-100.0%) and 33.4% (14.4-58.4%), respectively. Familial risk and heritability of ASD may vary by intellectual ability, which implies that risk factors between these ASD phenotypes may differ. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies. LAY SUMMARY: Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well-understood. In a population-based cohort study on families of 567,436 index persons using Swedish registers data, we found that the familial risk profile differed between ASD with and without intellectual disability. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies. En ligne : http://dx.doi.org/10.1002/aur.2417 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=434
in Autism Research > 13-12 (December 2020) . - p.2242-2250[article] The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability [Texte imprimé et/ou numérique] / Sherlly XIE, Auteur ; Håkan KARLSSON, Auteur ; Christina DALMAN, Auteur ; Linnea WIDMAN, Auteur ; Dheeraj RAI, Auteur ; Renee M. GARDNER, Auteur ; Cecilia MAGNUSSON, Auteur ; Sven SANDIN, Auteur ; Loni P. TABB, Auteur ; Craig J. NEWSCHAFFER, Auteur ; Brian K. LEE, Auteur . - p.2242-2250.
Langues : Anglais (eng)
in Autism Research > 13-12 (December 2020) . - p.2242-2250
Mots-clés : autism spectrum disorders familial risk family study heritability intellectual disability Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well understood. In this population-based cohort study, we examined the familial risk and heritability of ASD with and without co-occurring intellectual disability (ID). We estimated odds ratios and heritability of ASD with ID (ASD+ID) and ASD without ID (ASD-ID) using register-based diagnosis data of 567,436 index persons born in 1984-2009 in Stockholm County, Sweden, and their parents, siblings, cousins, aunts, and uncles. The familial risk profile exhibited differences between ASD-ID and ASD+ID, most notably for index persons with affected parents. For example, for an index person who had at least one parent with ASD, the child's odds of ASD-ID and ASD+ID (95% confidence interval (CI)) increased by 16.2 (14.2-18.6) and 7.4 (5.5-10.0) folds, respectively. The more closely related a family member with ASD was, the greater the observed risk was of ASD in the index person, especially for ASD-ID. The broad-sense heritability (95% CI) for ASD?-?ID and ASD+ID were 64.6% (46.0-100.0%) and 33.4% (14.4-58.4%), respectively. Familial risk and heritability of ASD may vary by intellectual ability, which implies that risk factors between these ASD phenotypes may differ. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies. LAY SUMMARY: Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well-understood. In a population-based cohort study on families of 567,436 index persons using Swedish registers data, we found that the familial risk profile differed between ASD with and without intellectual disability. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies. En ligne : http://dx.doi.org/10.1002/aur.2417 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=434 Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder / C. L. YIN in Molecular Autism, 7 (2016)
[article]
Titre : Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : C. L. YIN, Auteur ; H. I. CHEN, Auteur ; L. H. LI, Auteur ; Yi-Ling CHIEN, Auteur ; H. M. LIAO, Auteur ; Miao-Churn CHOU, Auteur ; W. J. CHOU, Auteur ; W. C. TSAI, Auteur ; Yen-Nan CHIU, Auteur ; Y. Y. WU, Auteur ; C. Z. LO, Auteur ; J. Y. WU, Auteur ; Y. T. CHEN, Auteur ; S. S. GAU, Auteur Article en page(s) : 23p. Langues : Anglais (eng) Mots-clés : Adolescent Asian Continental Ancestry Group/genetics Autism Spectrum Disorder/etiology/genetics Child China Cohort Studies DNA Copy Number Variations Down-Regulation Exons Female Genome-Wide Association Study Genotype Humans Male Odds Ratio Pedigree Phenotype Polymorphism, Single Nucleotide Ubiquitin-Protein Ligases/genetics Autism spectrum disorder (ASD) Copy number variations (CNVs) Family study Gene expression Park2 Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder with complex genetic underpinning in its etiology. Copy number variations (CNVs) as one of the genetic factors associated with ASD have been addressed in recent genome-wide association studies (GWAS). However, the significance of CNV has not been well investigated in non-Caucasian ASD population. METHODS: To identify the pathogenic CNVs responsible for ASD in Han Chinese, we performed a segment-based GWAS of CNV in 335 ASD cases and 1093 healthy controls using Affymetrix single nucleotide polymorphism (SNP) array by focusing on case-specific CNVs. PARK2 was one of the important genes with several case-specific regions overlapped on it. The findings were validated in the initial screen sample set and replicated in another sample set by real-time quantitative PCR (qPCR). RESULTS: A total of six CNVs at 6q26 that spanned different exons of PARK2 were identified. The PARK2 expression level was down-regulated at exon-dependent manner in cases with either deletion or duplication. The result revealed that the gene function might be disrupted by exonic deletion and duplication. We also observed that the ASD case with exonic duplication demonstrated a more severe interference of PARK2 expression and the clinical feature than the ones with deletion at the exons 2-4 of the PARK2 gene. CONCLUSIONS: Our finding provides evidence to support that CNVs affecting PARK2 function might contribute to genetic etiology of a proportion of cases with ASD. The intriguing results of this work warrant further study on characterizing the functional impact of various exonic CNVs on the PARK2 gene. TRIAL REGISTRATION: ClinicalTrials.gov NCT00494754. En ligne : http://dx.doi.org/10.1186/s13229-016-0087-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329
in Molecular Autism > 7 (2016) . - 23p.[article] Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder [Texte imprimé et/ou numérique] / C. L. YIN, Auteur ; H. I. CHEN, Auteur ; L. H. LI, Auteur ; Yi-Ling CHIEN, Auteur ; H. M. LIAO, Auteur ; Miao-Churn CHOU, Auteur ; W. J. CHOU, Auteur ; W. C. TSAI, Auteur ; Yen-Nan CHIU, Auteur ; Y. Y. WU, Auteur ; C. Z. LO, Auteur ; J. Y. WU, Auteur ; Y. T. CHEN, Auteur ; S. S. GAU, Auteur . - 23p.
Langues : Anglais (eng)
in Molecular Autism > 7 (2016) . - 23p.
Mots-clés : Adolescent Asian Continental Ancestry Group/genetics Autism Spectrum Disorder/etiology/genetics Child China Cohort Studies DNA Copy Number Variations Down-Regulation Exons Female Genome-Wide Association Study Genotype Humans Male Odds Ratio Pedigree Phenotype Polymorphism, Single Nucleotide Ubiquitin-Protein Ligases/genetics Autism spectrum disorder (ASD) Copy number variations (CNVs) Family study Gene expression Park2 Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder with complex genetic underpinning in its etiology. Copy number variations (CNVs) as one of the genetic factors associated with ASD have been addressed in recent genome-wide association studies (GWAS). However, the significance of CNV has not been well investigated in non-Caucasian ASD population. METHODS: To identify the pathogenic CNVs responsible for ASD in Han Chinese, we performed a segment-based GWAS of CNV in 335 ASD cases and 1093 healthy controls using Affymetrix single nucleotide polymorphism (SNP) array by focusing on case-specific CNVs. PARK2 was one of the important genes with several case-specific regions overlapped on it. The findings were validated in the initial screen sample set and replicated in another sample set by real-time quantitative PCR (qPCR). RESULTS: A total of six CNVs at 6q26 that spanned different exons of PARK2 were identified. The PARK2 expression level was down-regulated at exon-dependent manner in cases with either deletion or duplication. The result revealed that the gene function might be disrupted by exonic deletion and duplication. We also observed that the ASD case with exonic duplication demonstrated a more severe interference of PARK2 expression and the clinical feature than the ones with deletion at the exons 2-4 of the PARK2 gene. CONCLUSIONS: Our finding provides evidence to support that CNVs affecting PARK2 function might contribute to genetic etiology of a proportion of cases with ASD. The intriguing results of this work warrant further study on characterizing the functional impact of various exonic CNVs on the PARK2 gene. TRIAL REGISTRATION: ClinicalTrials.gov NCT00494754. En ligne : http://dx.doi.org/10.1186/s13229-016-0087-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329