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The Serotonin Transporter Polymorphism rs25531 Is Associated with Irritable Bowel Syndrome

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Abstract

Irritable bowel syndrome is a frequent gastrointestinal disorder of unknown etiology. The serotonin transporter regulates the intensity and duration of serotonin signaling in the gut and is, therefore, an attractive candidate gene for irritable bowel syndrome. Previous studies investigating the 5-HTTLPR and Stin2 VNTR polymorphisms of the serotonin transporter have proved inconclusive. In this exploratory study we therefore expanded the search for a possible association of the serotonin transporter with irritable bowel syndrome to include not only the 5-HTTLPR and Stin2 VNTR length polymorphisms, but also the functional single nucleotide polymorphism rs25531. We genotyped 186 patients with irritable bowel syndrome and 50 healthy control subjects raging in age from 18 to 70 years. Carriers of the rare G allele of rs25531 had approximately threefold increased odds of irritable bowel syndrome compared with healthy controls (OR 3.3, 95% CI 1.1–9.6). Our findings suggest that further investigation of the possible role of the serotonin transporter in the etiology of IBS is warranted.

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Abbreviations

SERT or 5-HTT:

Serotonin transporter

5-HTTLPR:

Serotonin transporter length polymorphic region, i.e. a 43 bp insertion–deletion polymorphism in the promoter region

STin2 VNTR:

Serotonin transporter intron 2 variable number tandem repeat polymorphism

rs25531:

Unique identifier for a single nucleotide polymorphism in the serotonin transporter gene promoter region

IBS:

Irritable bowel syndrome

PCR:

Polymerase chain reaction

GI:

Gastrointestinal

LD:

Linkage disequilibrium

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Acknowledgments

This study was supported by National Institute of Nursing Research Grants NIH NR01094, P30 NR04001, the NIH Office of Research in Women’s Health, and by resources from the Veterans Affairs Puget Sound Health Care System, Seattle, Washington.

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Authors and Affiliations

  1. Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA, 98195-6560, USA

    Ruth Kohen

  2. Geriatric Research, Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, 1660 South Columbian Way, Seattle, WA, 98108, USA

    Ruth Kohen, Grace P. Navaja & Sarah Symonds

  3. Department of Biobehavioral Nursing & Health Systems, University of Washington, Seattle, WA, 98195-7226, USA

    Monica E. Jarrett, Sang-Eun Jun & Margaret M. Heitkemper

  4. Department of Biostatistics, School of Public Health, University of Washington, Seattle, WA, 98195-7230, USA

    Kevin C. Cain

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  1. Ruth Kohen
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Correspondence to Ruth Kohen.

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Kohen, R., Jarrett, M.E., Cain, K.C. et al. The Serotonin Transporter Polymorphism rs25531 Is Associated with Irritable Bowel Syndrome. Dig Dis Sci 54, 2663–2670 (2009). https://doi.org/10.1007/s10620-008-0666-3

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  • DOI: https://doi.org/10.1007/s10620-008-0666-3

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