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Online ISSN: 1096-8628 Print ISSN:
0148-7299
American Journal of Medical Genetics
Articles Available Online in Advance of Print
American Journal of Medical Genetics Part A
Published Online: 16 Jan 2003
Copyright © 2003 Wiley-Liss, Inc. |
Rapid Publication
| Sudden infant death syndrome:
Association with a promoter polymorphism of the serotonin transporter gene |
| Debra E. Weese-Mayer 1 *, Elizabeth M.
Berry-Kravis 1, Brion S. Maher
2, Jean M. Silvestri 1, Mark
E. Curran 3, Mary L. Marazita
2 4 |
1Department of Pediatrics, Rush
Children's Hospital at Rush-Presbyterian-St. Luke's Medical Center, Rush
University, Chicago, Illinois
2Center for Craniofacial and Dental
Genetics, Division of Oral Biology, School of Dental Medicine, University of
Pittsburgh, Pittsburgh, Pennsylvania
3DNA Sciences, Inc., Fremont, California
4Department of Human Genetics, Graduate
School of Public Health, and Department of Oral and Maxillofacial Surgery,
School of Dental Medicine, University of Pittsburgh, Pittsburgh,
Pennsylvania
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| email: Debra E. Weese-Mayer (dweese@rush.edu) |
*Correspondence to Debra E. Weese-Mayer,
Professor of Pediatrics at Rush University, Director, Pediatric Respiratory
Medicine at Rush Children's Hospital, 1653 West Congress Parkway, Chicago, IL
60612.
Funded by:
 C.J. Foundation for SIDS
The Sara Lee Foundation
The Justin Carl Suth SIDS Research Fund
The Joseph Tyler Gertler SIDS Research
Fund
The University of Maryland Brain Bank and
Tissue Bank for Developmental Disorders
http://medschool.umaryland.edu/btbank/main.html
| sudden infant death syndrome • 5HTT • serotonin transporter |
| Serotonergic receptor binding in the arcuate nucleus, n. raphé obscurus,
and other medullary regions is decreased in sudden infant death syndrome
(SIDS) cases. Further, a variable tandem repeat sequence polymorphism in the
promoter region of the serotonin transporter protein (5-HTT) gene has
recently been associated with risk of SIDS in a Japanese cohort. This
polymorphism differentially regulates 5-HTT expression, with the long allele
(L), the SIDS-associated allele, being a more effective promoter than the
short allele (S). We therefore investigated the 5-HTT promoter polymorphism
in a cohort of 87 SIDS cases (43 African American and 44 Caucasian) and
gender/ethnicity-matched controls. Significant positive associations were
found between SIDS and the 5-HTT genotype distribution (P = 0.022),
specifically with the L/L genotype (P = 0.048), and between SIDS and
the 5-HTT L allele (P = 0.005). There was also a significant negative
association between SIDS and the S/S genotype (P = 0.011). The
comparisons were repeated in the African American and Caucasian subgroups.
The data patterns were consistent in the subgroups, i.e., the L/L genotype
and L allele were increased in the cases, but not all subgroup comparisons
were statistically significant. These results indicate a relationship
between SIDS and the L allele of the 5-HTT gene in African Americans
and Caucasians, and if confirmed, will provide an important tool for
identifying at-risk individuals and estimating the risk of recurrence. ©
2003 Wiley-Liss, Inc. |
Received: 8 November 2002; Accepted: 11 December 2002
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