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
|
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
|
…
