Re-Screening serotonin receptors for genetic variants identifies population and molecular genetic complexity

We have re‐screened the genes for the 5‐HT1A, 5‐HT2A, 5‐HT2C, and 5‐HT7 serotonin receptors for genetic variants in a large African‐American and Caucasian‐American population sample. We have identified eight novel variants in these genes including four that are predicted to cause amino acid substitu...

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Veröffentlicht in:American journal of medical genetics 2004-01, Vol.124B (1), p.92-100
Hauptverfasser: Glatt, Charles E., Tampilic, Maricel, Christie, Carroll, DeYoung, Joe, Freimer, Nelson B.
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container_issue 1
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container_title American journal of medical genetics
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creator Glatt, Charles E.
Tampilic, Maricel
Christie, Carroll
DeYoung, Joe
Freimer, Nelson B.
description We have re‐screened the genes for the 5‐HT1A, 5‐HT2A, 5‐HT2C, and 5‐HT7 serotonin receptors for genetic variants in a large African‐American and Caucasian‐American population sample. We have identified eight novel variants in these genes including four that are predicted to cause amino acid substitutions. These variants are additional candidates for association studies of behavioral disorders such as depression and schizophrenia as well as quantitative personality traits. We have also detected some, but not all, previously identified variants in these genes suggesting that many previously identified variants are unique to specific populations. The results of this study, and previous screens of serotonin receptors, demonstrate that the genes for serotonin receptors display marked population and molecular genetic complexity. These levels of complexity may have a substantial effect on genetic association studies of human behavioral variability related to these genes. We discuss the implications of these findings and propose methods to address complexity in genetic association studies. © 2003 Wiley‐Liss, Inc.
doi_str_mv 10.1002/ajmg.b.20056
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J. Med. Genet</addtitle><description>We have re‐screened the genes for the 5‐HT1A, 5‐HT2A, 5‐HT2C, and 5‐HT7 serotonin receptors for genetic variants in a large African‐American and Caucasian‐American population sample. We have identified eight novel variants in these genes including four that are predicted to cause amino acid substitutions. These variants are additional candidates for association studies of behavioral disorders such as depression and schizophrenia as well as quantitative personality traits. We have also detected some, but not all, previously identified variants in these genes suggesting that many previously identified variants are unique to specific populations. The results of this study, and previous screens of serotonin receptors, demonstrate that the genes for serotonin receptors display marked population and molecular genetic complexity. 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Genetic counseling</topic><topic>genetic heterogeneity</topic><topic>Genetic Testing</topic><topic>Genetic Variation</topic><topic>Haplotypes - genetics</topic><topic>Humans</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Mental Disorders - diagnosis</topic><topic>Mental Disorders - genetics</topic><topic>Molecular Sequence Data</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Receptor, Serotonin, 5-HT1A - genetics</topic><topic>Receptor, Serotonin, 5-HT2A - genetics</topic><topic>Receptor, Serotonin, 5-HT2C - genetics</topic><topic>Receptors, Serotonin - genetics</topic><topic>Sequence Homology</topic><topic>single nucleotide polymorphism denaturing high-performance liquid chromatography</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Glatt, Charles E.</creatorcontrib><creatorcontrib>Tampilic, Maricel</creatorcontrib><creatorcontrib>Christie, Carroll</creatorcontrib><creatorcontrib>DeYoung, Joe</creatorcontrib><creatorcontrib>Freimer, Nelson B.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Glatt, Charles E.</au><au>Tampilic, Maricel</au><au>Christie, Carroll</au><au>DeYoung, Joe</au><au>Freimer, Nelson B.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Re-Screening serotonin receptors for genetic variants identifies population and molecular genetic complexity</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. 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subjects African Americans - genetics
Alleles
Amino Acid Sequence
behavioral genetics
Biological and medical sciences
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
European Continental Ancestry Group - genetics
Gene Frequency
General aspects. Genetic counseling
genetic heterogeneity
Genetic Testing
Genetic Variation
Haplotypes - genetics
Humans
Medical genetics
Medical sciences
Mental Disorders - diagnosis
Mental Disorders - genetics
Molecular Sequence Data
Polymorphism, Single Nucleotide
Receptor, Serotonin, 5-HT1A - genetics
Receptor, Serotonin, 5-HT2A - genetics
Receptor, Serotonin, 5-HT2C - genetics
Receptors, Serotonin - genetics
Sequence Homology
single nucleotide polymorphism denaturing high-performance liquid chromatography
title Re-Screening serotonin receptors for genetic variants identifies population and molecular genetic complexity
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