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Gepubliceerd in: Journal of Autism and Developmental Disorders 2/2012

01-02-2012 | Letter to the Editor

The Effect of an Autism-Associated Polymorphism in the STK39 Gene on the Autism Symptom Domains

Auteurs: Rick D. Vavolizza, James Schmeidler, Nicolas Ramoz, Joseph D. Buxbaum, Christopher J. Smith, Jeremy M. Silverman

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 2/2012

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Excerpt

The STK39 gene encodes a serine/threonine kinase of 547-amino acids ubiquitously expressed in the brain and pancreas, and it may function in the cellular stress response pathway during states of hypotonic stress. An earlier report provided evidence for an association between autism and the single nucleotide polymorphism (SNP) rs1807984 in the STK39 gene (Ramoz et al. 2008). This led us to investigate, using the same sample, whether any of the core autism domains (i.e. impaired social interaction and communication, and restricted and repetitive behavior) or, more specifically, any of the four autism-related features previously identified as familial (Silverman et al. 2001) (i.e., circumscribed interests, routines and rituals, level of language, and age at phrase speech) varied by genotype for this SNP (Table  1).
Table 1
ADI domain scores in ASD participants categorized by the rs1807984 genotype
Sample characteristics
GG genotype (SEM)
GT genotype (SEM)
TT genotype (SEM)
F statistic (with degrees of freedom)
p value/significance
N (total number of subjects)
68
171
97
Mean age (SD)
6.98 (3.21)
8.06 (5.19)
8.36 (4.09)
Males/females
53/15
136/35
75/22
Autism domain scores
 Mean social
20.86 (0.886)
20.27 (0.548)
21.12 (0.731)
0.463 (2, 54.879)
0.632
 Mean nonverbal communication
9.917 (0.453)
10.46 (0.280)
10.28 (0.374)
0.256 (2, 54.857)
0.775
 Mean verbal communication
14.73 (0.493)
14.80 (0.305)
14.78 (0.407)
0.208 (2, 54.883)
0.813
 Mean repetitive behaviors
6.367 (0.275)
5.619 (0.170)
5.835 (0.227)
1.074 (2, 54.860)
0.349
Additional familial features
 Circumscribed interests (ADI: D1)
1.495 (0.139)
1.518 (0.086)
1.402 (0.115)
0.537 (2, 54.828)
0.588
 Routines and rituals (ADI: D2)
1.712 (0.133)
1.170 (0.082)
1.387 (0.110)
1.912 (2, 54.873)
0.158
 Current, overall level of language
0.548 (0.111)
0.664 (0.069)
0.634 (0.091)
0.483 (2, 54.808)
0.619
 Age at phrase speech
283.7 (56.657)
368.0 (35.034)
319.5 (46.754)
0.252 (2, 54.850)
0.778

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Literatuur
go back to reference Lord, C., Rutter, M., & Le Couteur, A. (1994). Autism diagnostic interview—revised a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24, 659–685. PubMedCrossRef Lord, C., Rutter, M., & Le Couteur, A. (1994). Autism diagnostic interview—revised a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24, 659–685. PubMedCrossRef
go back to reference Ramoz, N., Cai, G., Reichert, J. G., Silverman, J. M., & Buxbaum, J. D. (2008). An analysis of candidate autism loci on chromosome 2q24–q33: Evidence for association to the STK39 gene. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 147(7), 1152–1158. CrossRef Ramoz, N., Cai, G., Reichert, J. G., Silverman, J. M., & Buxbaum, J. D. (2008). An analysis of candidate autism loci on chromosome 2q24–q33: Evidence for association to the STK39 gene. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 147(7), 1152–1158. CrossRef
go back to reference Silverman, J. M., Buxbaum, J. D., Ramoz, N., Schmeidler, J., Reichenberg, A., Hollander, E., et al. (2008). Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 147(3), 408–410. Silverman, J. M., Buxbaum, J. D., Ramoz, N., Schmeidler, J., Reichenberg, A., Hollander, E., et al. (2008). Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 147(3), 408–410.
go back to reference Silverman, J. M., Smith, C. J., Schmeidler, J., Hollander, E., Lawlor, B. A., Fitzgerald, M., et al. (2001). Symptom domains in autism and related conditions: evidence for familiality. American Journal of Medical Genetics, 114(1), 64–73. CrossRef Silverman, J. M., Smith, C. J., Schmeidler, J., Hollander, E., Lawlor, B. A., Fitzgerald, M., et al. (2001). Symptom domains in autism and related conditions: evidence for familiality. American Journal of Medical Genetics, 114(1), 64–73. CrossRef
Metagegevens
Titel
The Effect of an Autism-Associated Polymorphism in the STK39 Gene on the Autism Symptom Domains
Auteurs
Rick D. Vavolizza
James Schmeidler
Nicolas Ramoz
Joseph D. Buxbaum
Christopher J. Smith
Jeremy M. Silverman
Publicatiedatum
01-02-2012
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 2/2012
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-011-1226-9