Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder

2013 ◽  
Vol 7 (1) ◽  
pp. 138-144 ◽  
Author(s):  
Jernej Kovač ◽  
Marta Macedoni Lukšič ◽  
Katarina Trebušak Podkrajšek ◽  
Gašper Klančar ◽  
Tadej Battelino
Keyword(s):  
Autism Spectrum Disorder ◽  
Superoxide Dismutase ◽  
Single Nucleotide Polymorphisms ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Regulatory Regions

scholarly journals Identification of Four Novel Synonymous Substitutions in the X-Linked GenesNeuroligin 3andNeuroligin 4Xin Japanese Patients with Autistic Spectrum Disorder

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Kumiko Yanagi ◽  
Tadashi Kaname ◽  
Keiko Wakui ◽  
Ohiko Hashimoto ◽  
Yoshimitsu Fukushima ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Mutation Screening ◽  
Melting Curve ◽  
Japanese Patients ◽  
Autism Spectrum ◽  
Ethnic Background ◽  
Spectrum Disorder ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Synonymous Substitutions

Mutations in the X-linked genesneuroligin 3 (NLGN3)andneuroligin 4X (NLGN4X)were first implicated in the pathogenesis of X-linked autism in Swedish families. However, reports of mutations in these genes in autism spectrum disorder (ASD) patients from various ethnic backgrounds present conflicting results regarding the etiology of ASD, possibly because of genetic heterogeneity and/or differences in their ethnic background. Additional mutation screening study on another ethnic background could help to clarify the relevance of the genes to ASD. We scanned the entire coding regions ofNLGN3andNLGN4Xin 62 Japanese patients with ASD by polymerase chain reaction-high-resolution melting curve and direct sequencing analyses. Four synonymous substitutions, one inNLGN3and three inNLGN4X, were identified in four of the 62 patients. These substitutions were not present in 278 control X-chromosomes from unrelated Japanese individuals and were not registered in the database of Single Nucleotide Polymorphisms build 132 or in the Japanese Single Nucleotide Polymorphisms database, indicating that they were novel and specific to ASD. Though further analysis is necessary to determine the physiological and clinical importance of such substitutions, the possibility of the relevance of both synonymous and nonsynonymous substitutions with the etiology of ASD should be considered.

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

2014 ◽  
Vol 67 (6) ◽  
pp. 453-456 ◽  
Author(s):  
Daiga Bauze ◽  
Linda Piekuse ◽  
Laura Kevere ◽  
Zane Kronberga ◽  
Arnis Riževs ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Statistical Significance ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Chromosome 11 ◽  
Genetic Loci ◽  
Genome Database ◽  
Single Nucleotide

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.

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