Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African population

Jyoti Rajan Sharma; Zainunisha Arieff; Hajirah Gameeldien; Muneera Davids; Mandeep Kaur; Lize van der Merwe

doi:10.1089/gtmb.2012.0212

Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African population

Jyoti Rajan Sharma, Zainunisha Arieff, Hajirah Gameeldien, Muneera Davids, Mandeep Kaur, Lize van der Merwe

Computer, Electrical and Mathematical Sciences and Engineering

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

Abstract

Background: Autism (MIM209850) is a neurodevelopmental disorder characterized by a triad of impairments, namely impairment in social interaction, impaired communication skills, and restrictive and repetitive behavior. A number of family and twin studies have demonstrated that genetic factors play a pivotal role in the etiology of autistic disorder. Various reports of reduced levels of reelin protein in the brain and plasma in autistic patients highlighted the role of the reelin gene (RELN) in autism. There is no such published study on the South African (SA) population. Aims: The aim of the present study was to find the genetic association of intronic rs736707 and exonic rs362691 (single-nucleotide polymorphisms [SNPs] of the RELN gene) with autism in a SA population. Methods: Genomic DNA was isolated from cheek cell swabs from autistic (136) as well as control (208) subjects. The TaqMan ® Real-Time polymerase chain reaction and genotyping assay was utilized to determine the genotypes. Results: A significant association of SNP rs736707, but not for SNP rs362691, with autism in the SA population is observed. Conclusion: There might be a possible role of RELN in autism, especially for SA populations. The present study represents the first report on genetic association studies on the RELN gene in the SA population. © 2013, Mary Ann Liebert, Inc.

Original language	English (US)
Pages (from-to)	93-98
Number of pages	6
Journal	Genetic Testing and Molecular Biomarkers
Volume	17
Issue number	2
DOIs	https://doi.org/10.1089/gtmb.2012.0212
State	Published - Feb 2013

Bibliographical note

KAUST Repository Item: Exported on 2020-10-01
Acknowledgements: We would like to thank the National Research Foundation, South Africa (Thuthuka grant TTK2008050600011), Autism South Africa, and the University of the Western Cape, for funds provided for this study. We also want to thank the children, their parents, the school staff, and volunteers of the Western Cape Education department for their support and involvement during sample collection.

ASJC Scopus subject areas

Genetics(clinical)

Access to Document

10.1089/gtmb.2012.0212

Cite this

@article{e24919297f124c7b8ca737d704c576fb,

title = "Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African population",

abstract = "Background: Autism (MIM209850) is a neurodevelopmental disorder characterized by a triad of impairments, namely impairment in social interaction, impaired communication skills, and restrictive and repetitive behavior. A number of family and twin studies have demonstrated that genetic factors play a pivotal role in the etiology of autistic disorder. Various reports of reduced levels of reelin protein in the brain and plasma in autistic patients highlighted the role of the reelin gene (RELN) in autism. There is no such published study on the South African (SA) population. Aims: The aim of the present study was to find the genetic association of intronic rs736707 and exonic rs362691 (single-nucleotide polymorphisms [SNPs] of the RELN gene) with autism in a SA population. Methods: Genomic DNA was isolated from cheek cell swabs from autistic (136) as well as control (208) subjects. The TaqMan {\textregistered} Real-Time polymerase chain reaction and genotyping assay was utilized to determine the genotypes. Results: A significant association of SNP rs736707, but not for SNP rs362691, with autism in the SA population is observed. Conclusion: There might be a possible role of RELN in autism, especially for SA populations. The present study represents the first report on genetic association studies on the RELN gene in the SA population. {\textcopyright} 2013, Mary Ann Liebert, Inc.",

author = "Sharma, {Jyoti Rajan} and Zainunisha Arieff and Hajirah Gameeldien and Muneera Davids and Mandeep Kaur and {van der Merwe}, Lize",

note = "KAUST Repository Item: Exported on 2020-10-01 Acknowledgements: We would like to thank the National Research Foundation, South Africa (Thuthuka grant TTK2008050600011), Autism South Africa, and the University of the Western Cape, for funds provided for this study. We also want to thank the children, their parents, the school staff, and volunteers of the Western Cape Education department for their support and involvement during sample collection.",

year = "2013",

month = feb,

doi = "10.1089/gtmb.2012.0212",

language = "English (US)",

volume = "17",

pages = "93--98",

journal = "Genetic Testing and Molecular Biomarkers",

issn = "1945-0265",

publisher = "Mary Ann Liebert Inc.",

number = "2",

}

TY - JOUR

T1 - Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African population

AU - Sharma, Jyoti Rajan

AU - Arieff, Zainunisha

AU - Gameeldien, Hajirah

AU - Davids, Muneera

AU - Kaur, Mandeep

AU - van der Merwe, Lize

N1 - KAUST Repository Item: Exported on 2020-10-01 Acknowledgements: We would like to thank the National Research Foundation, South Africa (Thuthuka grant TTK2008050600011), Autism South Africa, and the University of the Western Cape, for funds provided for this study. We also want to thank the children, their parents, the school staff, and volunteers of the Western Cape Education department for their support and involvement during sample collection.

PY - 2013/2

Y1 - 2013/2

N2 - Background: Autism (MIM209850) is a neurodevelopmental disorder characterized by a triad of impairments, namely impairment in social interaction, impaired communication skills, and restrictive and repetitive behavior. A number of family and twin studies have demonstrated that genetic factors play a pivotal role in the etiology of autistic disorder. Various reports of reduced levels of reelin protein in the brain and plasma in autistic patients highlighted the role of the reelin gene (RELN) in autism. There is no such published study on the South African (SA) population. Aims: The aim of the present study was to find the genetic association of intronic rs736707 and exonic rs362691 (single-nucleotide polymorphisms [SNPs] of the RELN gene) with autism in a SA population. Methods: Genomic DNA was isolated from cheek cell swabs from autistic (136) as well as control (208) subjects. The TaqMan ® Real-Time polymerase chain reaction and genotyping assay was utilized to determine the genotypes. Results: A significant association of SNP rs736707, but not for SNP rs362691, with autism in the SA population is observed. Conclusion: There might be a possible role of RELN in autism, especially for SA populations. The present study represents the first report on genetic association studies on the RELN gene in the SA population. © 2013, Mary Ann Liebert, Inc.

AB - Background: Autism (MIM209850) is a neurodevelopmental disorder characterized by a triad of impairments, namely impairment in social interaction, impaired communication skills, and restrictive and repetitive behavior. A number of family and twin studies have demonstrated that genetic factors play a pivotal role in the etiology of autistic disorder. Various reports of reduced levels of reelin protein in the brain and plasma in autistic patients highlighted the role of the reelin gene (RELN) in autism. There is no such published study on the South African (SA) population. Aims: The aim of the present study was to find the genetic association of intronic rs736707 and exonic rs362691 (single-nucleotide polymorphisms [SNPs] of the RELN gene) with autism in a SA population. Methods: Genomic DNA was isolated from cheek cell swabs from autistic (136) as well as control (208) subjects. The TaqMan ® Real-Time polymerase chain reaction and genotyping assay was utilized to determine the genotypes. Results: A significant association of SNP rs736707, but not for SNP rs362691, with autism in the SA population is observed. Conclusion: There might be a possible role of RELN in autism, especially for SA populations. The present study represents the first report on genetic association studies on the RELN gene in the SA population. © 2013, Mary Ann Liebert, Inc.

UR - http://hdl.handle.net/10754/562632

UR - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3552159

UR - http://www.scopus.com/inward/record.url?scp=84872833038&partnerID=8YFLogxK

U2 - 10.1089/gtmb.2012.0212

DO - 10.1089/gtmb.2012.0212

M3 - Article

C2 - 23216241

SN - 1945-0265

VL - 17

SP - 93

EP - 98

JO - Genetic Testing and Molecular Biomarkers

JF - Genetic Testing and Molecular Biomarkers

IS - 2

ER -

Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South African population

Abstract

Bibliographical note

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this