5-HTTLPR Polymorphism: Analysis in South African Autistic Individuals

Handle URI:
http://hdl.handle.net/10754/555705
Title:
5-HTTLPR Polymorphism: Analysis in South African Autistic Individuals
Authors:
Arieff, Zainunisha; Kaur, Mandeep; Gameeldien, Hajirah; van der Merwe, Lize; Bajic, Vladimir B. ( 0000-0001-5435-4750 )
Abstract:
The serotonin transporter promoter length polymorphism (5-hydroxytryptamine transporter length polymorphism; 5-HTTLPR) has long been implicated in autism and other psychiatric disorders. The use of selective serotonin reuptake inhibitors (SSRIs) has a positive effect on treating some symptoms of autism. The effects of these drugs vary in individuals because of the presence of the S or L allele of 5-HTTLPR. Studies performed on various autistic populations have found different allele frequencies for the L and S alleles. Allele frequencies and genotypes of the South African autistic populations (African, mixed, and Caucasian) were compared with matching South African ethnic control populations. The *S/*S genotype was found to be highly significantly associated with all the South African autistic ethnic populations. In the South African African population the *S/*S genotype was present in 7 (33%) of the autistic individuals but in none of the control subjects, yielding infinitely large odds of developing autism. The odds of developing autism with the *S/*S genotype compared to the *L/*L genotype increased 10.15-fold in the South African mixed group and 2.74-fold in the South African Caucasian population. The allele frequency of the South African autistic population was also compared with studies of other autistic populations around the world, and highly significant differences were found with the Japanese, Korean, and Indian population groups. The difference was not significant for the French, German, Israeli, Portuguese, and American groups. This is the first South African study of autistic individuals of different ethnic backgrounds that shows significant differences in allele and genotype frequencies of 5-HTTLPR. The results of this study open new avenues for investigating the role of transmission of the L and S alleles in families with autism in South Africa.
KAUST Department:
Computational Bioscience Research Center (CBRC)
Citation:
5-HTTLPR Polymorphism: Analysis in South African Autistic Individuals 2010, 82 (3):291 Human Biology
Journal:
Human Biology
Issue Date:
Jun-2010
DOI:
10.3378/027.082.0303
Type:
Article
ISSN:
0018-7143; 1534-6617
Additional Links:
http://www.bioone.org/doi/abs/10.3378/027.082.0303
Appears in Collections:
Articles; Computational Bioscience Research Center (CBRC); Computational Bioscience Research Center (CBRC)

Full metadata record

DC FieldValue Language
dc.contributor.authorArieff, Zainunishaen
dc.contributor.authorKaur, Mandeepen
dc.contributor.authorGameeldien, Hajirahen
dc.contributor.authorvan der Merwe, Lizeen
dc.contributor.authorBajic, Vladimir B.en
dc.date.accessioned2015-05-25T14:36:19Zen
dc.date.available2015-05-25T14:36:19Zen
dc.date.issued2010-06en
dc.identifier.citation5-HTTLPR Polymorphism: Analysis in South African Autistic Individuals 2010, 82 (3):291 Human Biologyen
dc.identifier.issn0018-7143en
dc.identifier.issn1534-6617en
dc.identifier.doi10.3378/027.082.0303en
dc.identifier.urihttp://hdl.handle.net/10754/555705en
dc.description.abstractThe serotonin transporter promoter length polymorphism (5-hydroxytryptamine transporter length polymorphism; 5-HTTLPR) has long been implicated in autism and other psychiatric disorders. The use of selective serotonin reuptake inhibitors (SSRIs) has a positive effect on treating some symptoms of autism. The effects of these drugs vary in individuals because of the presence of the S or L allele of 5-HTTLPR. Studies performed on various autistic populations have found different allele frequencies for the L and S alleles. Allele frequencies and genotypes of the South African autistic populations (African, mixed, and Caucasian) were compared with matching South African ethnic control populations. The *S/*S genotype was found to be highly significantly associated with all the South African autistic ethnic populations. In the South African African population the *S/*S genotype was present in 7 (33%) of the autistic individuals but in none of the control subjects, yielding infinitely large odds of developing autism. The odds of developing autism with the *S/*S genotype compared to the *L/*L genotype increased 10.15-fold in the South African mixed group and 2.74-fold in the South African Caucasian population. The allele frequency of the South African autistic population was also compared with studies of other autistic populations around the world, and highly significant differences were found with the Japanese, Korean, and Indian population groups. The difference was not significant for the French, German, Israeli, Portuguese, and American groups. This is the first South African study of autistic individuals of different ethnic backgrounds that shows significant differences in allele and genotype frequencies of 5-HTTLPR. The results of this study open new avenues for investigating the role of transmission of the L and S alleles in families with autism in South Africa.en
dc.relation.urlhttp://www.bioone.org/doi/abs/10.3378/027.082.0303en
dc.rightsArchived with thanks to Human Biologyen
dc.subjectSEROTONIN TRANSPORTERen
dc.subject5-HTTLPR POLYMORPHISMen
dc.subjectAUTISMen
dc.subjectSELECTIVE SEROTONIN REUPTAKE INHIBITORS (SSRIS)en
dc.subjectSOUTH AFRICAN POPULATIONSen
dc.title5-HTTLPR Polymorphism: Analysis in South African Autistic Individualsen
dc.typeArticleen
dc.contributor.departmentComputational Bioscience Research Center (CBRC)en
dc.identifier.journalHuman Biologyen
dc.eprint.versionPublisher's Version/PDFen
dc.contributor.institutionDepartment of Biotechnology, University of the Western Cape, Private Bag X17, Bellville 7535, Cape Town, South Africaen
dc.contributor.institutionBiostatistics Unit, Medical Research Council, PO Box 17090, Tygerberg 7505, South Africa.en
dc.contributor.institutionDepartment of Statistics, University of the Western Cape, Private Bag X17, Bellville 7535, Cape Town, South Africa.en
kaust.authorKaur, Mandeepen
kaust.authorBajic, Vladimir B.en
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