<abstract xmlns="http://www.w3.org/1999/xhtml">Several genetic loci in chromosomes 11 and 15 have recently been associated with non-syndromic autism spectrum disorder (ASD) in populations from North America and Europe. The aim of the present study was to investigate whether such an association exists in a Latvian population. Ninety-five patients with ASD in the age range 3–20 years (mean age 8 years, SD 3.18) participated in the study. The control group consisted of 161 healthy, non-related individuals without ASD randomly selected from the Latvian Genome Database. Four single nucleotide polymorphisms (SNPs) — rs11212733, SNP rs1394119, rs2421826, rs1454985 — were genotyped by the TaqMan method. Allele frequency differences between ASD patients and control subjects were compared for each SNP using a standard chi-square test with Bonferroni correction. The level of statistical significance was set at 0.05 for nominal association. Only the genetic marker rs11212733, localised on the long arm of chromosome 11 in locus 22.3, was found to be strongly associated with the ASD patient group (χ2 6.982, Padjusted 0.033, odds ratio 1.625). Our data demonstrating a significant relationship between the SNP rs11212733 and the development of ASD in a Latvian population suggest that it is not a population-specific relationship. Thus, future studies focusing on the DDX10 gene and related genetic loci are needed.</abstract>

Several genetic loci in chromosomes 11 and 15 have recently been associated with non-syndromic autism spectrum disorder (ASD) in populations from North America and Europe. The aim of the present study was to investigate whether such an association exists in a Latvian population. Ninety-five patients with ASD in the age range 3–20 years (mean age 8 years, SD 3.18) participated in the study. The control group consisted of 161 healthy, non-related individuals without ASD randomly selected from the Latvian Genome Database. Four single nucleotide polymorphisms (SNPs) — rs11212733, SNP rs1394119, rs2421826, rs1454985 — were genotyped by the TaqMan method. Allele frequency differences between ASD patients and control subjects were compared for each SNP using a standard chi-square test with Bonferroni correction. The level of statistical significance was set at 0.05 for nominal association. Only the genetic marker rs11212733, localised on the long arm of chromosome 11 in locus 22.3, was found to be strongly associated with the ASD patient group (χ2 6.982, Padjusted 0.033, odds ratio 1.625). Our data demonstrating a significant relationship between the SNP rs11212733 and the development of ASD in a Latvian population suggest that it is not a population-specific relationship. Thus, future studies focusing on the DDX10 gene and related genetic loci are needed.

Association of Single Nucleotide Polymorphism in Chromosome 11 with Autism Spectrum Disorder

Children’s University Hospital, Child Psychiatry Clinic, Juglas iela 20, Rîga, LV–1079, LATVIA

Children’s University Hospital, Medical Genetics Clinic, Juglas iela 20, Rîga, LV–1079, LATVIA

Rīga Stradiņš University, Dzirciema 16, Rīga, LV-1007, LATVIA

Latvian Biomedical Research and Study Centre, Rātsupītes iela 1, Rīga, LV-1067, LATVIA

Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

AUTISKĀ SPEKTRA TRAUCĒJUMU SAISTĪBA AR 11. HROMOSOMAS ĢENĒTISKO POLIMORFISMU

Several genetic loci in chromosomes 11 and 15 have recently been associated with non-syndromic autism spectrum disorder (ASD) in populations from North America...

Association of Single Nucleotide Polymorphism in Chromosome 11 with Autism Spectrum Disorder

Pubblicato online: 17 lug 2014

Pagine: 453 - 456

Ricevuto: 21 nov 2012

DOI: https://doi.org/10.2478/prolas-2013-0079

Parole chiave
autism spectrum disorder (ASD), single nucleotide polymorphisms (SNPs), rs11212733, DDX10

© 2013 Daiga Bauze et. al.

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Association of Single Nucleotide Polymorphism in Chromosome 11 with Autism Spectrum Disorder

Pubblicato online: 17 lug 2014

Pagine: 453 - 456

Ricevuto: 21 nov 2012

DOI: https://doi.org/10.2478/prolas-2013-0079

Parole chiaveautism spectrum disorder (ASD), single nucleotide polymorphisms (SNPs), rs11212733, DDX10

© 2013 Daiga Bauze et. al.

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Parole chiave
autism spectrum disorder (ASD), single nucleotide polymorphisms (SNPs), rs11212733, DDX10