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Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder / Yan LI in Journal of Autism and Developmental Disorders, 50-10 (October 2020)
[article]
Titre : Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Yan LI, Auteur ; Shuang QIU, Auteur ; Weijing ZHONG, Auteur ; Yong LI, Auteur ; Yunkai LIU, Auteur ; Yi CHENG, Auteur ; Yawen LIU, Auteur Article en page(s) : p.3800-3809 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Deleted in colorectal carcinoma gene Haplotype analysis Single nucleotide polymorphisms Susceptibility Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) represents a group of childhood-onset lifelong neuro-developmental disorders. However, the association between single nucleotide polymorphisms (SNPs) in the deleted in colorectal carcinoma (DCC) gene and ASD susceptibility remains unclear. We investigated the association between ASD susceptibility and seven SNPs in DCC on the basis of a case-control study (231 ASD cases and 242 controls) in Chinese Han. We found that there was no association between ASD susceptibility and the seven SNPs in DCC; however, T-A haplotype (rs2229082-rs2270954), T-A-T-C haplotype (rs2229082-rs2270954-rs2292043-rs2292044), C-G-T-C-T haplotype (rs934345-rs17753970-rs2229082-rs2270954-rs2292043), C-G-T-C-T-G haplotype (rs934345-rs17753970-rs2229082-rs2270954-rs2292043-rs2292044), and G-G-T-C-C-C-C haplotype (rs934345-rs17753970-rs2229082-rs2270954-rs2292043-rs2292044-rs16956878) were associated with ASD susceptibility. Our results indicate that the haplotypes formed on the basis of the seven SNPs in DCC may be implicated in ASD. En ligne : http://dx.doi.org/10.1007/s10803-020-04417-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=432
in Journal of Autism and Developmental Disorders > 50-10 (October 2020) . - p.3800-3809[article] Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Yan LI, Auteur ; Shuang QIU, Auteur ; Weijing ZHONG, Auteur ; Yong LI, Auteur ; Yunkai LIU, Auteur ; Yi CHENG, Auteur ; Yawen LIU, Auteur . - p.3800-3809.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 50-10 (October 2020) . - p.3800-3809
Mots-clés : Autism spectrum disorder Deleted in colorectal carcinoma gene Haplotype analysis Single nucleotide polymorphisms Susceptibility Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) represents a group of childhood-onset lifelong neuro-developmental disorders. However, the association between single nucleotide polymorphisms (SNPs) in the deleted in colorectal carcinoma (DCC) gene and ASD susceptibility remains unclear. We investigated the association between ASD susceptibility and seven SNPs in DCC on the basis of a case-control study (231 ASD cases and 242 controls) in Chinese Han. We found that there was no association between ASD susceptibility and the seven SNPs in DCC; however, T-A haplotype (rs2229082-rs2270954), T-A-T-C haplotype (rs2229082-rs2270954-rs2292043-rs2292044), C-G-T-C-T haplotype (rs934345-rs17753970-rs2229082-rs2270954-rs2292043), C-G-T-C-T-G haplotype (rs934345-rs17753970-rs2229082-rs2270954-rs2292043-rs2292044), and G-G-T-C-C-C-C haplotype (rs934345-rs17753970-rs2229082-rs2270954-rs2292043-rs2292044-rs16956878) were associated with ASD susceptibility. Our results indicate that the haplotypes formed on the basis of the seven SNPs in DCC may be implicated in ASD. En ligne : http://dx.doi.org/10.1007/s10803-020-04417-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=432 rs1007893 and rs2070435 in DIP2A are associated with visual-reaction-behavior phenotype in Chinese Han population with autism spectrum disorder / Yan LI in Research in Autism Spectrum Disorders, 70 (February 2020)
[article]
Titre : rs1007893 and rs2070435 in DIP2A are associated with visual-reaction-behavior phenotype in Chinese Han population with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Yan LI, Auteur ; Shuang QIU, Auteur ; Weijing ZHONG, Auteur ; Jikang SHI, Auteur ; Heran CUI, Auteur ; Yong LI, Auteur ; Yunkai LIU, Auteur ; Yi CHENG, Auteur ; Yawen LIU, Auteur Article en page(s) : p.101475 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Disco-interacting protein 2 homolog agene Single nucleotide polymorphisms Behavior phenotype Index. décimale : PER Périodiques Résumé : Background The disco-interacting protein 2 homolog A gene (DIP2A) has been reported as a novel candidate gene of Autism spectrum disorder (ASD). Associations between single nucleotide polymorphisms (SNPs) and ASD behavior phenotypes provide an opportunity to timely treat an infant with potential ASD by earlier intervention targeting a specific behavior phenotype. Methods The association of SNPs (rs8130538, rs1007893, rs34736293, rs7279002, rs2070435, rs2255397, rs1107065,rs2248636) of DIP2A with both ASD susceptibility and ASD behaviour phenotypes were investigated in Chinese Han population using a case- control study on the basis of 231 ASD cases and 242 controls. Results The allele frequencies and genotype distributions of the eight SNPs of DIP2A in the cases were not different from those in the controls; the eight DIP2A SNPs were not associated with ASD risk under the five geneticmodels; and haplotypes were not different between the cases and the controls Conclusions We identified that rs1007893 and rs2070435 in DIP2A are associated with "visual reaction" behavior phenotype in Chinese Han population. En ligne : https://doi.org/10.1016/j.rasd.2019.101475 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414
in Research in Autism Spectrum Disorders > 70 (February 2020) . - p.101475[article] rs1007893 and rs2070435 in DIP2A are associated with visual-reaction-behavior phenotype in Chinese Han population with autism spectrum disorder [Texte imprimé et/ou numérique] / Yan LI, Auteur ; Shuang QIU, Auteur ; Weijing ZHONG, Auteur ; Jikang SHI, Auteur ; Heran CUI, Auteur ; Yong LI, Auteur ; Yunkai LIU, Auteur ; Yi CHENG, Auteur ; Yawen LIU, Auteur . - p.101475.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 70 (February 2020) . - p.101475
Mots-clés : Autism spectrum disorder Disco-interacting protein 2 homolog agene Single nucleotide polymorphisms Behavior phenotype Index. décimale : PER Périodiques Résumé : Background The disco-interacting protein 2 homolog A gene (DIP2A) has been reported as a novel candidate gene of Autism spectrum disorder (ASD). Associations between single nucleotide polymorphisms (SNPs) and ASD behavior phenotypes provide an opportunity to timely treat an infant with potential ASD by earlier intervention targeting a specific behavior phenotype. Methods The association of SNPs (rs8130538, rs1007893, rs34736293, rs7279002, rs2070435, rs2255397, rs1107065,rs2248636) of DIP2A with both ASD susceptibility and ASD behaviour phenotypes were investigated in Chinese Han population using a case- control study on the basis of 231 ASD cases and 242 controls. Results The allele frequencies and genotype distributions of the eight SNPs of DIP2A in the cases were not different from those in the controls; the eight DIP2A SNPs were not associated with ASD risk under the five geneticmodels; and haplotypes were not different between the cases and the controls Conclusions We identified that rs1007893 and rs2070435 in DIP2A are associated with "visual reaction" behavior phenotype in Chinese Han population. En ligne : https://doi.org/10.1016/j.rasd.2019.101475 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 SHANK1 polymorphisms and SNP-SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant age in Autism Research, 12-3 (March 2019)
[article]
Titre : SHANK1 polymorphisms and SNP-SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant age Type de document : Texte imprimé et/ou numérique Article en page(s) : p.375-383 Langues : Anglais (eng) Mots-clés : Shank1 Shank2 Shank3 SNP-SNP interaction Single nucleotide polymorphisms autism spectrum disorder Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a serious lifelong neurodevelopmental disorder. ASD is diagnosed for children at the age of two. ASD diagnosis, as early as possible, lays the foundation for treatment and much better prognosis. Notably, gene-based test is an inherent method to recognize the potential infants with ASD before the age of two. To investigate whether SHANK family contributes to ASD prediction, on the basis of our previous studies of SHANK2 and SHANK3, we further investigated associations between SHANK1 polymorphisms and ASD risk as well as SNP-SNP interactions among SHANK family. We enrolled 470 subjects (229 cases and 241 healthy controls) who were northeast Chinese Han. Four tag SNPs (rs73042561, rs3745521, rs4801846, and rs12461427) of SHANK1 were selected and genotyped. We used the SNPStats online analysis program to assess the associations between the four SNPs and ASD risk. The SNP-SNP interactions among SHANK family were analyzed using multifactor dimensionality reduction method. We found that the four SHANK1 SNPs were not associated with ASD risk in northeast Chinese Han population. There existed a strong synergistic interaction between rs11236697 [SHANK2] and rs74336682 [SHANK2], and moderate synergistic interactions (rs74336682 [SHANK2]-rs73042561 [SHANK1], rs11236697 [SHANK2]-rs77716438 [SHANK2], and rs11236697 [SHANK2]-rs75357229 [SHANK2]). These SHANK1 variants may not affect the susceptibility to ASD in Chinese Han population. SNP-SNP interactions in SHANK family may confer ASD risk. Autism Res 2019, 12: 375-383 (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: ASD is a serious lifelong neurodevelopmental disorder with strong genetic components. We investigated associations between SHANK1 polymorphisms and ASD risk as well as SNP-SNP interactions among SHANK family. Our results indicated that there exists no association between SHANK1 SNPs and ASD, and SNP-SNP interactions in SHANK family may confer ASD risk in the Northeast Han Chinese population. Future studies are needed to test more SHANK family SNPs in a large sample to demonstrate the associations. En ligne : http://dx.doi.org/10.1002/aur.2065 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=387
in Autism Research > 12-3 (March 2019) . - p.375-383[article] SHANK1 polymorphisms and SNP-SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant age [Texte imprimé et/ou numérique] . - p.375-383.
Langues : Anglais (eng)
in Autism Research > 12-3 (March 2019) . - p.375-383
Mots-clés : Shank1 Shank2 Shank3 SNP-SNP interaction Single nucleotide polymorphisms autism spectrum disorder Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a serious lifelong neurodevelopmental disorder. ASD is diagnosed for children at the age of two. ASD diagnosis, as early as possible, lays the foundation for treatment and much better prognosis. Notably, gene-based test is an inherent method to recognize the potential infants with ASD before the age of two. To investigate whether SHANK family contributes to ASD prediction, on the basis of our previous studies of SHANK2 and SHANK3, we further investigated associations between SHANK1 polymorphisms and ASD risk as well as SNP-SNP interactions among SHANK family. We enrolled 470 subjects (229 cases and 241 healthy controls) who were northeast Chinese Han. Four tag SNPs (rs73042561, rs3745521, rs4801846, and rs12461427) of SHANK1 were selected and genotyped. We used the SNPStats online analysis program to assess the associations between the four SNPs and ASD risk. The SNP-SNP interactions among SHANK family were analyzed using multifactor dimensionality reduction method. We found that the four SHANK1 SNPs were not associated with ASD risk in northeast Chinese Han population. There existed a strong synergistic interaction between rs11236697 [SHANK2] and rs74336682 [SHANK2], and moderate synergistic interactions (rs74336682 [SHANK2]-rs73042561 [SHANK1], rs11236697 [SHANK2]-rs77716438 [SHANK2], and rs11236697 [SHANK2]-rs75357229 [SHANK2]). These SHANK1 variants may not affect the susceptibility to ASD in Chinese Han population. SNP-SNP interactions in SHANK family may confer ASD risk. Autism Res 2019, 12: 375-383 (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: ASD is a serious lifelong neurodevelopmental disorder with strong genetic components. We investigated associations between SHANK1 polymorphisms and ASD risk as well as SNP-SNP interactions among SHANK family. Our results indicated that there exists no association between SHANK1 SNPs and ASD, and SNP-SNP interactions in SHANK family may confer ASD risk in the Northeast Han Chinese population. Future studies are needed to test more SHANK family SNPs in a large sample to demonstrate the associations. En ligne : http://dx.doi.org/10.1002/aur.2065 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=387