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Rare plus common SERT variants in obsessive-compulsive disorder

Molecular Psychiatry volume 12, pages 422–423 (2007)Cite this article

The serotonin transporter gene (SERT, SLC6A4) remains a candidate of high interest in obsessive-compulsive disorder (OCD) because patients with the disorder respond to central nervous system serotonin-enhancing agents, such as selective serotoning reuptake inhibitors or clomipramine. Furthermore, SERT's most-studied functional polymorphism, 5-HTTLPR, has been associated with both the diagnosis of OCD in several studies1, 2 though not all;3 and also with factor analysis-derived endophenotypic OCD subgroups.4 An uncommon rare functional variant, I425V, which was originally found to segregate with OCD in two families,5 was recently reported in an additional three OCD families.6 In these five families, 10 diagnostically evaluated individuals with I425V all had OCD, and no one of the other eight family members without I425V had OCD (two individuals declined participation). SERT I425V is extremely rare in control populations.5, 6

To extend the investigation of these two SERT variants, 5-HTTLPR and I425V, a selected cohort of individuals with psychiatric interview-assessed OCD were genotyped as described previously for 5-HTTLPR1 and using a pyrosequencing method for I425V.7 Clinical characteristics of this sample have been detailed previously.8 The majority of the OCD sample was Caucasian (over 90%) whereas a similar proportion of the control sample was Caucasian.

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Authors and Affiliations

  1. Departments of Psychiatry and Behavioral Sciences, School of Medicine, Johns Hopkins University, Baltimore, MD, USA

    M A Grados, J Samuels, Y Y Shugart, V L Willour, Y Wang, B Cullen, O J Bienvenu, R Hoehn-Saric, M A Riddle & G Nestadt

  2. Department of Psychiatry, The Kennedy Krieger Institute, Baltimore, MD, USA

    M A Grados

  3. Department of Mental Health, Bloomberg School of Public Health, Baltimore, MD, USA

    J Samuels & G Nestadt

  4. Department of Epidemiology, Bloomberg School of Public Health, Baltimore, MD, USA

    Y Y Shugart

  5. Department of Pediatrics, School of Medicine, Johns Hopkins University, Baltimore, MD, USA

    D Valle

  6. Department of Biostatistics, Bloomberg School of Public Health, Baltimore, MD, USA

    K-Y Liang

  7. Laboratory of Clinical Science, NIMH, NIH, Bethesda, MD, USA

    J R Wendland & D L Murphy

  8. Mood and Anxiety Disorders Program, NIMH, NIH, Bethesda, MD, USA

    S Detera-Wadleigh

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  1. M A Grados
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  2. J Samuels
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  15. S Detera-Wadleigh
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Correspondence to M A Grados.

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Grados, M., Samuels, J., Shugart, Y. et al. Rare plus common SERT variants in obsessive-compulsive disorder. Mol Psychiatry 12, 422–423 (2007). https://doi.org/10.1038/sj.mp.4001970

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