Support for calcium channel gene defects in autism spectrum disorders

<p<Abstract</p< <p<Background</p< <p<Alternation of synaptic homeostasis is a biological process whose disruption might predispose children to autism spectrum disorders (ASD). Calcium channel genes (CCG) contribute to modulating neuronal function and evidence implicating CCG in ASD has been accumulating. We conducted a targeted association analysis of CCG using existing genome-wide association study (GWAS) data and imputation methods in a combined sample of parent/affected child trios from two ASD family collections to explore this hypothesis.</p< <p<Methods</p< <p<A total of 2,176 single-nucleotide polymorphisms (SNP) (703 genotyped and 1,473 imputed) covering the genes that encode the α<sub<1</sub< subunit proteins of 10 calcium channels were tested for association with ASD in a combined sample of 2,781 parent/affected child trios from 543 multiplex Caucasian ASD families from the Autism Genetics Resource Exchange (AGRE) and 1,651 multiplex and simplex Caucasian ASD families from the Autism Genome Project (AGP). SNP imputation using IMPUTE2 and a combined reference panel from the HapMap3 and the 1,000 Genomes Project increased coverage density of the CCG. Family-based association was tested using the FBAT software which controls for population stratification and accounts for the non-independence of siblings within multiplex families. The level of significance for association was set at 2.3E-05, providing a Bonferroni correction for this targeted 10-gene panel.</p< <p<Results</p< <p<Four SNPs in three CCGs were associated with ASD. One, <it<rs10848653</it<, is located in <it<CACNA1C</it<, a gene in which rare <it<de novo</it< mutations are responsible for Timothy syndrome, a Mendelian disorder that features ASD. Two others, <it<rs198538</it< and <it<rs198545</it<, located in <it<CACN1G</it<, and a fourth, <it<rs5750860</it<, located in <it<CACNA1I</it<, are in CCGs that encode T-type calcium channels, genes with previous ASD associations.</p< <p<Conclusions</p< <p<These associations support a role for common CCG SNPs in ASD.</p< Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Lu Ake Tzu-Hui [verfasserIn] Dai Xiaoxian [verfasserIn] Martinez-Agosto Julian A [verfasserIn] Cantor Rita M [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2012

Schlagwörter:	Autism spectrum disorders Calcium channel genes Common variants Imputed SNPs Association studies

Übergeordnetes Werk:	In: Molecular Autism - BMC, 2010, 3(2012), 1, p 18
Übergeordnetes Werk:	volume:3 ; year:2012 ; number:1, p 18

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1186/2040-2392-3-18

Katalog-ID:	DOAJ022963448

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allfields	10.1186/2040-2392-3-18 doi (DE-627)DOAJ022963448 (DE-599)DOAJ686d04e0b8df40cb92e33f4fc7fa44f2 DE-627 ger DE-627 rakwb eng RC346-429 Lu Ake Tzu-Hui verfasserin aut Support for calcium channel gene defects in autism spectrum disorders 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Alternation of synaptic homeostasis is a biological process whose disruption might predispose children to autism spectrum disorders (ASD). Calcium channel genes (CCG) contribute to modulating neuronal function and evidence implicating CCG in ASD has been accumulating. We conducted a targeted association analysis of CCG using existing genome-wide association study (GWAS) data and imputation methods in a combined sample of parent/affected child trios from two ASD family collections to explore this hypothesis.</p< <p<Methods</p< <p<A total of 2,176 single-nucleotide polymorphisms (SNP) (703 genotyped and 1,473 imputed) covering the genes that encode the α<sub<1</sub< subunit proteins of 10 calcium channels were tested for association with ASD in a combined sample of 2,781 parent/affected child trios from 543 multiplex Caucasian ASD families from the Autism Genetics Resource Exchange (AGRE) and 1,651 multiplex and simplex Caucasian ASD families from the Autism Genome Project (AGP). SNP imputation using IMPUTE2 and a combined reference panel from the HapMap3 and the 1,000 Genomes Project increased coverage density of the CCG. Family-based association was tested using the FBAT software which controls for population stratification and accounts for the non-independence of siblings within multiplex families. The level of significance for association was set at 2.3E-05, providing a Bonferroni correction for this targeted 10-gene panel.</p< <p<Results</p< <p<Four SNPs in three CCGs were associated with ASD. One, <it<rs10848653</it<, is located in <it<CACNA1C</it<, a gene in which rare <it<de novo</it< mutations are responsible for Timothy syndrome, a Mendelian disorder that features ASD. Two others, <it<rs198538</it< and <it<rs198545</it<, located in <it<CACN1G</it<, and a fourth, <it<rs5750860</it<, located in <it<CACNA1I</it<, are in CCGs that encode T-type calcium channels, genes with previous ASD associations.</p< <p<Conclusions</p< <p<These associations support a role for common CCG SNPs in ASD.</p< Autism spectrum disorders Calcium channel genes Common variants Imputed SNPs Association studies Neurology. Diseases of the nervous system Dai Xiaoxian verfasserin aut Martinez-Agosto Julian A verfasserin aut Cantor Rita M verfasserin aut In Molecular Autism BMC, 2010 3(2012), 1, p 18 (DE-627)620141522 (DE-600)2540930-X 20402392 nnns volume:3 year:2012 number:1, p 18 https://doi.org/10.1186/2040-2392-3-18 kostenfrei https://doaj.org/article/686d04e0b8df40cb92e33f4fc7fa44f2 kostenfrei http://www.molecularautism.com/content/3/1/18 kostenfrei https://doaj.org/toc/2040-2392 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 3 2012 1, p 18
spelling	10.1186/2040-2392-3-18 doi (DE-627)DOAJ022963448 (DE-599)DOAJ686d04e0b8df40cb92e33f4fc7fa44f2 DE-627 ger DE-627 rakwb eng RC346-429 Lu Ake Tzu-Hui verfasserin aut Support for calcium channel gene defects in autism spectrum disorders 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Alternation of synaptic homeostasis is a biological process whose disruption might predispose children to autism spectrum disorders (ASD). Calcium channel genes (CCG) contribute to modulating neuronal function and evidence implicating CCG in ASD has been accumulating. We conducted a targeted association analysis of CCG using existing genome-wide association study (GWAS) data and imputation methods in a combined sample of parent/affected child trios from two ASD family collections to explore this hypothesis.</p< <p<Methods</p< <p<A total of 2,176 single-nucleotide polymorphisms (SNP) (703 genotyped and 1,473 imputed) covering the genes that encode the α<sub<1</sub< subunit proteins of 10 calcium channels were tested for association with ASD in a combined sample of 2,781 parent/affected child trios from 543 multiplex Caucasian ASD families from the Autism Genetics Resource Exchange (AGRE) and 1,651 multiplex and simplex Caucasian ASD families from the Autism Genome Project (AGP). SNP imputation using IMPUTE2 and a combined reference panel from the HapMap3 and the 1,000 Genomes Project increased coverage density of the CCG. Family-based association was tested using the FBAT software which controls for population stratification and accounts for the non-independence of siblings within multiplex families. The level of significance for association was set at 2.3E-05, providing a Bonferroni correction for this targeted 10-gene panel.</p< <p<Results</p< <p<Four SNPs in three CCGs were associated with ASD. One, <it<rs10848653</it<, is located in <it<CACNA1C</it<, a gene in which rare <it<de novo</it< mutations are responsible for Timothy syndrome, a Mendelian disorder that features ASD. Two others, <it<rs198538</it< and <it<rs198545</it<, located in <it<CACN1G</it<, and a fourth, <it<rs5750860</it<, located in <it<CACNA1I</it<, are in CCGs that encode T-type calcium channels, genes with previous ASD associations.</p< <p<Conclusions</p< <p<These associations support a role for common CCG SNPs in ASD.</p< Autism spectrum disorders Calcium channel genes Common variants Imputed SNPs Association studies Neurology. Diseases of the nervous system Dai Xiaoxian verfasserin aut Martinez-Agosto Julian A verfasserin aut Cantor Rita M verfasserin aut In Molecular Autism BMC, 2010 3(2012), 1, p 18 (DE-627)620141522 (DE-600)2540930-X 20402392 nnns volume:3 year:2012 number:1, p 18 https://doi.org/10.1186/2040-2392-3-18 kostenfrei https://doaj.org/article/686d04e0b8df40cb92e33f4fc7fa44f2 kostenfrei http://www.molecularautism.com/content/3/1/18 kostenfrei https://doaj.org/toc/2040-2392 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 3 2012 1, p 18
allfields_unstemmed	10.1186/2040-2392-3-18 doi (DE-627)DOAJ022963448 (DE-599)DOAJ686d04e0b8df40cb92e33f4fc7fa44f2 DE-627 ger DE-627 rakwb eng RC346-429 Lu Ake Tzu-Hui verfasserin aut Support for calcium channel gene defects in autism spectrum disorders 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Alternation of synaptic homeostasis is a biological process whose disruption might predispose children to autism spectrum disorders (ASD). Calcium channel genes (CCG) contribute to modulating neuronal function and evidence implicating CCG in ASD has been accumulating. We conducted a targeted association analysis of CCG using existing genome-wide association study (GWAS) data and imputation methods in a combined sample of parent/affected child trios from two ASD family collections to explore this hypothesis.</p< <p<Methods</p< <p<A total of 2,176 single-nucleotide polymorphisms (SNP) (703 genotyped and 1,473 imputed) covering the genes that encode the α<sub<1</sub< subunit proteins of 10 calcium channels were tested for association with ASD in a combined sample of 2,781 parent/affected child trios from 543 multiplex Caucasian ASD families from the Autism Genetics Resource Exchange (AGRE) and 1,651 multiplex and simplex Caucasian ASD families from the Autism Genome Project (AGP). SNP imputation using IMPUTE2 and a combined reference panel from the HapMap3 and the 1,000 Genomes Project increased coverage density of the CCG. Family-based association was tested using the FBAT software which controls for population stratification and accounts for the non-independence of siblings within multiplex families. The level of significance for association was set at 2.3E-05, providing a Bonferroni correction for this targeted 10-gene panel.</p< <p<Results</p< <p<Four SNPs in three CCGs were associated with ASD. One, <it<rs10848653</it<, is located in <it<CACNA1C</it<, a gene in which rare <it<de novo</it< mutations are responsible for Timothy syndrome, a Mendelian disorder that features ASD. Two others, <it<rs198538</it< and <it<rs198545</it<, located in <it<CACN1G</it<, and a fourth, <it<rs5750860</it<, located in <it<CACNA1I</it<, are in CCGs that encode T-type calcium channels, genes with previous ASD associations.</p< <p<Conclusions</p< <p<These associations support a role for common CCG SNPs in ASD.</p< Autism spectrum disorders Calcium channel genes Common variants Imputed SNPs Association studies Neurology. Diseases of the nervous system Dai Xiaoxian verfasserin aut Martinez-Agosto Julian A verfasserin aut Cantor Rita M verfasserin aut In Molecular Autism BMC, 2010 3(2012), 1, p 18 (DE-627)620141522 (DE-600)2540930-X 20402392 nnns volume:3 year:2012 number:1, p 18 https://doi.org/10.1186/2040-2392-3-18 kostenfrei https://doaj.org/article/686d04e0b8df40cb92e33f4fc7fa44f2 kostenfrei http://www.molecularautism.com/content/3/1/18 kostenfrei https://doaj.org/toc/2040-2392 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 3 2012 1, p 18
allfieldsGer	10.1186/2040-2392-3-18 doi (DE-627)DOAJ022963448 (DE-599)DOAJ686d04e0b8df40cb92e33f4fc7fa44f2 DE-627 ger DE-627 rakwb eng RC346-429 Lu Ake Tzu-Hui verfasserin aut Support for calcium channel gene defects in autism spectrum disorders 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Alternation of synaptic homeostasis is a biological process whose disruption might predispose children to autism spectrum disorders (ASD). Calcium channel genes (CCG) contribute to modulating neuronal function and evidence implicating CCG in ASD has been accumulating. We conducted a targeted association analysis of CCG using existing genome-wide association study (GWAS) data and imputation methods in a combined sample of parent/affected child trios from two ASD family collections to explore this hypothesis.</p< <p<Methods</p< <p<A total of 2,176 single-nucleotide polymorphisms (SNP) (703 genotyped and 1,473 imputed) covering the genes that encode the α<sub<1</sub< subunit proteins of 10 calcium channels were tested for association with ASD in a combined sample of 2,781 parent/affected child trios from 543 multiplex Caucasian ASD families from the Autism Genetics Resource Exchange (AGRE) and 1,651 multiplex and simplex Caucasian ASD families from the Autism Genome Project (AGP). SNP imputation using IMPUTE2 and a combined reference panel from the HapMap3 and the 1,000 Genomes Project increased coverage density of the CCG. Family-based association was tested using the FBAT software which controls for population stratification and accounts for the non-independence of siblings within multiplex families. The level of significance for association was set at 2.3E-05, providing a Bonferroni correction for this targeted 10-gene panel.</p< <p<Results</p< <p<Four SNPs in three CCGs were associated with ASD. One, <it<rs10848653</it<, is located in <it<CACNA1C</it<, a gene in which rare <it<de novo</it< mutations are responsible for Timothy syndrome, a Mendelian disorder that features ASD. Two others, <it<rs198538</it< and <it<rs198545</it<, located in <it<CACN1G</it<, and a fourth, <it<rs5750860</it<, located in <it<CACNA1I</it<, are in CCGs that encode T-type calcium channels, genes with previous ASD associations.</p< <p<Conclusions</p< <p<These associations support a role for common CCG SNPs in ASD.</p< Autism spectrum disorders Calcium channel genes Common variants Imputed SNPs Association studies Neurology. Diseases of the nervous system Dai Xiaoxian verfasserin aut Martinez-Agosto Julian A verfasserin aut Cantor Rita M verfasserin aut In Molecular Autism BMC, 2010 3(2012), 1, p 18 (DE-627)620141522 (DE-600)2540930-X 20402392 nnns volume:3 year:2012 number:1, p 18 https://doi.org/10.1186/2040-2392-3-18 kostenfrei https://doaj.org/article/686d04e0b8df40cb92e33f4fc7fa44f2 kostenfrei http://www.molecularautism.com/content/3/1/18 kostenfrei https://doaj.org/toc/2040-2392 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 3 2012 1, p 18
allfieldsSound	10.1186/2040-2392-3-18 doi (DE-627)DOAJ022963448 (DE-599)DOAJ686d04e0b8df40cb92e33f4fc7fa44f2 DE-627 ger DE-627 rakwb eng RC346-429 Lu Ake Tzu-Hui verfasserin aut Support for calcium channel gene defects in autism spectrum disorders 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Alternation of synaptic homeostasis is a biological process whose disruption might predispose children to autism spectrum disorders (ASD). Calcium channel genes (CCG) contribute to modulating neuronal function and evidence implicating CCG in ASD has been accumulating. We conducted a targeted association analysis of CCG using existing genome-wide association study (GWAS) data and imputation methods in a combined sample of parent/affected child trios from two ASD family collections to explore this hypothesis.</p< <p<Methods</p< <p<A total of 2,176 single-nucleotide polymorphisms (SNP) (703 genotyped and 1,473 imputed) covering the genes that encode the α<sub<1</sub< subunit proteins of 10 calcium channels were tested for association with ASD in a combined sample of 2,781 parent/affected child trios from 543 multiplex Caucasian ASD families from the Autism Genetics Resource Exchange (AGRE) and 1,651 multiplex and simplex Caucasian ASD families from the Autism Genome Project (AGP). SNP imputation using IMPUTE2 and a combined reference panel from the HapMap3 and the 1,000 Genomes Project increased coverage density of the CCG. Family-based association was tested using the FBAT software which controls for population stratification and accounts for the non-independence of siblings within multiplex families. The level of significance for association was set at 2.3E-05, providing a Bonferroni correction for this targeted 10-gene panel.</p< <p<Results</p< <p<Four SNPs in three CCGs were associated with ASD. One, <it<rs10848653</it<, is located in <it<CACNA1C</it<, a gene in which rare <it<de novo</it< mutations are responsible for Timothy syndrome, a Mendelian disorder that features ASD. Two others, <it<rs198538</it< and <it<rs198545</it<, located in <it<CACN1G</it<, and a fourth, <it<rs5750860</it<, located in <it<CACNA1I</it<, are in CCGs that encode T-type calcium channels, genes with previous ASD associations.</p< <p<Conclusions</p< <p<These associations support a role for common CCG SNPs in ASD.</p< Autism spectrum disorders Calcium channel genes Common variants Imputed SNPs Association studies Neurology. Diseases of the nervous system Dai Xiaoxian verfasserin aut Martinez-Agosto Julian A verfasserin aut Cantor Rita M verfasserin aut In Molecular Autism BMC, 2010 3(2012), 1, p 18 (DE-627)620141522 (DE-600)2540930-X 20402392 nnns volume:3 year:2012 number:1, p 18 https://doi.org/10.1186/2040-2392-3-18 kostenfrei https://doaj.org/article/686d04e0b8df40cb92e33f4fc7fa44f2 kostenfrei http://www.molecularautism.com/content/3/1/18 kostenfrei https://doaj.org/toc/2040-2392 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 3 2012 1, p 18
language	English
source	In Molecular Autism 3(2012), 1, p 18 volume:3 year:2012 number:1, p 18
sourceStr	In Molecular Autism 3(2012), 1, p 18 volume:3 year:2012 number:1, p 18
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institution	findex.gbv.de
topic_facet	Autism spectrum disorders Calcium channel genes Common variants Imputed SNPs Association studies Neurology. Diseases of the nervous system
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container_title	Molecular Autism
authorswithroles_txt_mv	Lu Ake Tzu-Hui @@aut@@ Dai Xiaoxian @@aut@@ Martinez-Agosto Julian A @@aut@@ Cantor Rita M @@aut@@
publishDateDaySort_date	2012-01-01T00:00:00Z
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topic_title	RC346-429 Support for calcium channel gene defects in autism spectrum disorders Autism spectrum disorders Calcium channel genes Common variants Imputed SNPs Association studies
topic	misc RC346-429 misc Autism spectrum disorders misc Calcium channel genes misc Common variants misc Imputed SNPs misc Association studies misc Neurology. Diseases of the nervous system
topic_unstemmed	misc RC346-429 misc Autism spectrum disorders misc Calcium channel genes misc Common variants misc Imputed SNPs misc Association studies misc Neurology. Diseases of the nervous system
topic_browse	misc RC346-429 misc Autism spectrum disorders misc Calcium channel genes misc Common variants misc Imputed SNPs misc Association studies misc Neurology. Diseases of the nervous system
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hierarchy_parent_title	Molecular Autism
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title	Support for calcium channel gene defects in autism spectrum disorders
ctrlnum	(DE-627)DOAJ022963448 (DE-599)DOAJ686d04e0b8df40cb92e33f4fc7fa44f2
title_full	Support for calcium channel gene defects in autism spectrum disorders
author_sort	Lu Ake Tzu-Hui
journal	Molecular Autism
journalStr	Molecular Autism
callnumber-first-code	R
lang_code	eng
isOA_bool	true
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publishDateSort	2012
contenttype_str_mv	txt
author_browse	Lu Ake Tzu-Hui Dai Xiaoxian Martinez-Agosto Julian A Cantor Rita M
container_volume	3
class	RC346-429
format_se	Elektronische Aufsätze
author-letter	Lu Ake Tzu-Hui
doi_str_mv	10.1186/2040-2392-3-18
author2-role	verfasserin
title_sort	support for calcium channel gene defects in autism spectrum disorders
callnumber	RC346-429
title_auth	Support for calcium channel gene defects in autism spectrum disorders
abstract	<p<Abstract</p< <p<Background</p< <p<Alternation of synaptic homeostasis is a biological process whose disruption might predispose children to autism spectrum disorders (ASD). Calcium channel genes (CCG) contribute to modulating neuronal function and evidence implicating CCG in ASD has been accumulating. We conducted a targeted association analysis of CCG using existing genome-wide association study (GWAS) data and imputation methods in a combined sample of parent/affected child trios from two ASD family collections to explore this hypothesis.</p< <p<Methods</p< <p<A total of 2,176 single-nucleotide polymorphisms (SNP) (703 genotyped and 1,473 imputed) covering the genes that encode the α<sub<1</sub< subunit proteins of 10 calcium channels were tested for association with ASD in a combined sample of 2,781 parent/affected child trios from 543 multiplex Caucasian ASD families from the Autism Genetics Resource Exchange (AGRE) and 1,651 multiplex and simplex Caucasian ASD families from the Autism Genome Project (AGP). SNP imputation using IMPUTE2 and a combined reference panel from the HapMap3 and the 1,000 Genomes Project increased coverage density of the CCG. Family-based association was tested using the FBAT software which controls for population stratification and accounts for the non-independence of siblings within multiplex families. The level of significance for association was set at 2.3E-05, providing a Bonferroni correction for this targeted 10-gene panel.</p< <p<Results</p< <p<Four SNPs in three CCGs were associated with ASD. One, <it<rs10848653</it<, is located in <it<CACNA1C</it<, a gene in which rare <it<de novo</it< mutations are responsible for Timothy syndrome, a Mendelian disorder that features ASD. Two others, <it<rs198538</it< and <it<rs198545</it<, located in <it<CACN1G</it<, and a fourth, <it<rs5750860</it<, located in <it<CACNA1I</it<, are in CCGs that encode T-type calcium channels, genes with previous ASD associations.</p< <p<Conclusions</p< <p<These associations support a role for common CCG SNPs in ASD.</p<
abstractGer	<p<Abstract</p< <p<Background</p< <p<Alternation of synaptic homeostasis is a biological process whose disruption might predispose children to autism spectrum disorders (ASD). Calcium channel genes (CCG) contribute to modulating neuronal function and evidence implicating CCG in ASD has been accumulating. We conducted a targeted association analysis of CCG using existing genome-wide association study (GWAS) data and imputation methods in a combined sample of parent/affected child trios from two ASD family collections to explore this hypothesis.</p< <p<Methods</p< <p<A total of 2,176 single-nucleotide polymorphisms (SNP) (703 genotyped and 1,473 imputed) covering the genes that encode the α<sub<1</sub< subunit proteins of 10 calcium channels were tested for association with ASD in a combined sample of 2,781 parent/affected child trios from 543 multiplex Caucasian ASD families from the Autism Genetics Resource Exchange (AGRE) and 1,651 multiplex and simplex Caucasian ASD families from the Autism Genome Project (AGP). SNP imputation using IMPUTE2 and a combined reference panel from the HapMap3 and the 1,000 Genomes Project increased coverage density of the CCG. Family-based association was tested using the FBAT software which controls for population stratification and accounts for the non-independence of siblings within multiplex families. The level of significance for association was set at 2.3E-05, providing a Bonferroni correction for this targeted 10-gene panel.</p< <p<Results</p< <p<Four SNPs in three CCGs were associated with ASD. One, <it<rs10848653</it<, is located in <it<CACNA1C</it<, a gene in which rare <it<de novo</it< mutations are responsible for Timothy syndrome, a Mendelian disorder that features ASD. Two others, <it<rs198538</it< and <it<rs198545</it<, located in <it<CACN1G</it<, and a fourth, <it<rs5750860</it<, located in <it<CACNA1I</it<, are in CCGs that encode T-type calcium channels, genes with previous ASD associations.</p< <p<Conclusions</p< <p<These associations support a role for common CCG SNPs in ASD.</p<
abstract_unstemmed	<p<Abstract</p< <p<Background</p< <p<Alternation of synaptic homeostasis is a biological process whose disruption might predispose children to autism spectrum disorders (ASD). Calcium channel genes (CCG) contribute to modulating neuronal function and evidence implicating CCG in ASD has been accumulating. We conducted a targeted association analysis of CCG using existing genome-wide association study (GWAS) data and imputation methods in a combined sample of parent/affected child trios from two ASD family collections to explore this hypothesis.</p< <p<Methods</p< <p<A total of 2,176 single-nucleotide polymorphisms (SNP) (703 genotyped and 1,473 imputed) covering the genes that encode the α<sub<1</sub< subunit proteins of 10 calcium channels were tested for association with ASD in a combined sample of 2,781 parent/affected child trios from 543 multiplex Caucasian ASD families from the Autism Genetics Resource Exchange (AGRE) and 1,651 multiplex and simplex Caucasian ASD families from the Autism Genome Project (AGP). SNP imputation using IMPUTE2 and a combined reference panel from the HapMap3 and the 1,000 Genomes Project increased coverage density of the CCG. Family-based association was tested using the FBAT software which controls for population stratification and accounts for the non-independence of siblings within multiplex families. The level of significance for association was set at 2.3E-05, providing a Bonferroni correction for this targeted 10-gene panel.</p< <p<Results</p< <p<Four SNPs in three CCGs were associated with ASD. One, <it<rs10848653</it<, is located in <it<CACNA1C</it<, a gene in which rare <it<de novo</it< mutations are responsible for Timothy syndrome, a Mendelian disorder that features ASD. Two others, <it<rs198538</it< and <it<rs198545</it<, located in <it<CACN1G</it<, and a fourth, <it<rs5750860</it<, located in <it<CACNA1I</it<, are in CCGs that encode T-type calcium channels, genes with previous ASD associations.</p< <p<Conclusions</p< <p<These associations support a role for common CCG SNPs in ASD.</p<
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title_short	Support for calcium channel gene defects in autism spectrum disorders
url	https://doi.org/10.1186/2040-2392-3-18 https://doaj.org/article/686d04e0b8df40cb92e33f4fc7fa44f2 http://www.molecularautism.com/content/3/1/18 https://doaj.org/toc/2040-2392
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author2	Dai Xiaoxian Martinez-Agosto Julian A Cantor Rita M
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