Poster (download)
193
Mira Khantemirova1, Daria Lichman2, Daria Bazovkina3, Anatoly Bragin4, Vladimir Naumenko5, Ludmila Osipova6
1Laboratory of populational ethnogenetics, Institute of cytology and genetics; Laboratory of computer genomics, Novosibirsk State University Novosibirsk, Russia, hantemiramira@mail.ru
2Laboratory of populational ethnogenetics, Institute of cytology and genetics; Laboratory of computer genomics, Novosibirsk State University Novosibirsk, Russia, daria.lichman@gmail.com
3Laboratory of behavioral neurogenomics, Institute of cytology and genetics Novosibirsk, Russia, daryabazovkina@gmail.com
4Laboratory of computer genomics, Novosibirsk State University Novosibirsk, Russia, ibragim@bionet.nsc.ru
5Laboratory of behavioral neurogenomics, Institute of cytology and genetics Novosibirsk, Russia, naumenko2002@bionet.nsc.ru
6Laboratory of populational ethnogenetics, Institute of cytology and genetics; Laboratory of computer genomics, Novosibirsk State University Novosibirsk, Russia, ludos77@yandex.ru
Serotonin (5-HT) participates in regulation of emotions, mood, sleep, appetite, and cognitive processes. Serotonin transporter (5-HTT, SERT) modulates serotoninergic neurotransmission through reuptake of 5-HT from the synaptic cleft. A variable number tandem repeat polymorphism found in intron 2 of the 5-HTT gene (Stin2 polymorphism) influences 5-HTT expression and is associated with anxiety, depression, suicidal behavior, obsessive-compulsive disorder. The aim of the present study was to investigate Stin2 allele frequencies in populations of Tundra Nenets and Nganasans inhabiting north and east Siberia. The frequency of the STin2.10 allele was 72.1% in Tundra Nenets and 89.4% in Nganasans. The data obtained are consistent with the uniform geographic gradient of STin2 alleles, with low frequency of the STin2.10 allele in East Asia and its increase towards west.
What is known about differences in association of each of Stin2 alleles (Stin2.9, Stin2.10 and Stin2.12) with anxiety, depression, suicidal behavior, obsessive-compulsive disorder etc.? What allele is “stronger”?
Hello!
The Stin2.12 allele is associated with bipolar disorder (Anguelova et al., 2003 – meta-analysis) and autism (Conroy et al., 2004), while an association with major depression was found for the Stin2.9 allele (Ogilvie et al., 1996). A preferential transmission of the Stin2.10 allele to probands with ADHD was demonstrated in family trios (Kent et al., 2002).
Initially, it was shown that the Stin2.12 variant is significantly more potent positive transcriptional regulatory element compared to Stin2.10 (Fiskerstrand et al., 1999, MacKenzie & Quinn, 1999). However, later it was demonstrated that enhancement of transcription by these elements depends on transcription factors available (Klenova et al., 2004) and also primary sequence of the repeat units (Lovejoy et al., 2003).
So the nature of associations is complex and obviously needs further investigation.
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