Study Report
Basic Info
Reference |
Stergiakouli E, 201121255266
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Citation |
Stergiakouli E., Langley K., Williams H., Walters J., Williams N. M., Suren S., Giegling I., Wilkinson L. S., Owen M. J., O'Donovan M. C., Rujescu D., Thapar A. and Davies W. (2011) "Steroid sulfatase is a potential modifier of cognition in attention deficit hyperactivity disorder." Genes Brain Behav, 10(3): 334-44.
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Study Design |
case-control |
Study Type |
Candidate-gene association study |
Sample Size |
393 cases and 360 controls |
Predominant Ethnicity |
Caucasian |
Population |
United Kingdom |
Gender |
352 male and 41 female patients, 360 male controls |
Age Group |
Children/Adolescents
:
5-18 years
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Detail Info
Summary |
Using a United Kingdom sample of ADHD subjects, they tested the hypothesis that rs12861247 is associated with ADHD risk using a case-control approach. Using a subset of males from the ADHD sample, they also examined whether variation within STS is associated with symptomatology/cognitive function in ADHD. They then tested whether SNPs associated with cognitive function in ADHD were also associated with cognitive function in healthy male subjects using a German sample, and whether STS was expressed in brain regions pertinent to ADHD pathology during development. They did not replicate the previously identified association with rs12861247. However, in ADHD males, variation at rs17268988 was associated with inattentive symptoms, while variation within STS was significantly associated with performance on three cognitive measures. Three SNPs associated with cognitive function in ADHD males were not associated with cognitive function in healthy males. STS was highly expressed in the developing cerebellar neuroepithelium, basal ganglia, thalamus, pituitary gland, hypothalamus and choroid plexus. |
Total Sample |
A sample of 393 British Caucasian subjects in total (352 males, 41 females) between the ages of 5 and 18 years who had recently been diagnosed with ADHD was recruited. The control sample genotyped at rs12861247 for the case-control study (hereafter referred to as the control group) consisted of 360 males. |
Sample Collection |
A sample of 393 British Caucasian subjects in total (352 males, 41 females) between the ages of 5 and 18 years who had recently been diagnosed with ADHD was recruited from Child and Adolescent Psychiatrists and Paediatricians in the Greater Manchester, South Wales and Avon areas of the United Kingdom. The control sample consisted of 360 males from the Wellcome Trust Case Control Consortium 1958 Birth Cohort sample, used in previous association studies in Cardiff (Wellcome Trust Case Control Consortium 2007). |
Diagnosis Description |
The presence of symptoms and research diagnoses of Diagnostic and Statistical Manual of Mental Disorders, Version IV (DSM-IV) ADHD and comorbid conditions were obtained from parent reports using the Child and Adolescent Psychiatric Assessment (CAPA), with pervasiveness of ADHD assessed using the Child ADHD Teacher Telephone Interview (ChATTI). |
Technique |
Genomic DNA was extracted from saliva or whole blood samples according to routine procedures. Single-nucleotide polymorphism rs12861247 was genotyped in the ADHD sample and in the control group using TaqMan SNP genotyping assay C_321340_10 according to the manufacturer's instructions (Applied Biosystems, Warrington, United Kingdom). |
Analysis Method |
The case-control data were analyzed using PLINK 1.06, which takes into account the location of the SNPs on the X chromosome. P values of <0.05 following extremely conservative Bonferroni correction for multiple testing (taking into account the number of SNPs genotyped and the number of phenotypes assayed) were regarded as significant. |
Result Description |
They did not replicate the previously identified association with rs12861247. These data suggested that genetic variants affecting STS expression and/or activity could influence the function of brain regions perturbed in ADHD. |
SNPs reported by this study (count: 1)
SNP |
Allele Change |
Risk Allele |
Statistical Values |
Author Comments |
Result of Statistical Analysis |
rs12861247 |
G/A |
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P-value=0.762, OR=1.08 in the total sample of case-control analysis; P-value=0.888, OR=0.96 in males only |
there was no significant difference between cases and contro......
there was no significant difference between cases and controls
More...
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Non-significant
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Genes reported by this study (count: 1)
Gene |
Statistical Values/Author Comments |
Result of Statistical Analysis |
STS |
They did not replicate the previously identified association......
They did not replicate the previously identified association with rs12861247 in this case-control sample
More...
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Non-significant
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