ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Study Report

Basic Info

Reference	Sarkar, K., 201221996783
Citation	Sarkar K., Bhaduri N., Ghosh P., Sinha S., Ray A., Chatterjee A. and Mukhopadhyay K. (2012) "Role of SNAP25 explored in eastern Indian attention deficit hyperactivity disorder probands." Neurochem Res, 37(2): 349-57.
Study Design	case-control and family-based
Study Type	Candidate-gene association study
Sample Size	ADHD probands (n = 150), their parents (n = 272) and age-matched controls (n = 100)
Predominant Ethnicity	Caucasoid
Population	Indian
Gender	Male: Female ratio = 10:1
Age Group	Children/Adolescents : Mean age of 7.7 years, SD=2.3

Detail Info

Summary	In the present investigation, for the first time association between ADHD and six SNAP25 polymorphisms, rs1889189, rs362569, rs362988, rs3746544, rs1051312, and rs8636 was explored in eastern Indian population. Subjects were recruited following the Diagnostic and Statistical Manual for Mental Disorders-IV. Genomic DNA isolated from peripheral blood leukocytes of ADHD probands (n = 150), their parents (n = 272) and ethnically matched controls (n = 100) was used for amplifying target sites. Data obtained were subjected to population- as well as family-based analyses. While case-control analysis revealed lack of any significant difference for alleles, family-based studies revealed a mild over transmission rs3746544 'T' and rs8636 'C' alleles (P = 0.05 and 0.03 respectively). Haplotypes formed between rs362569 "T", 362988 "G", rs3746544 "T", rs1051312 "T" and rs8636 "C" in different combinations showed statistically significant transmission to ADHD probands. Excepting rs3746544 and rs8636, all the tested sites showed very low linkage disequilibrium between them. Data obtained in this preliminary study indicates that rs3746544 'T' allele may have some role in the disease etiology in the studied Indian population.
Total Sample	One hundred and fifty ADHD probands with mean age of 7.7 years, 2.3 SD and 10:1 male to female ratio were recruited. Out of the 150 probands, 134 were complete parent-proband trios, 14 had only one parent and 2 were affected probands. Majority of the probands belonged to the combined subtype (81.5%) whereas 11.2 and 7.3% belonged to hyperactive/impulsive and inattentive subtypes respectively. A control group (n = 100; mean age 18.9 years, 6.8 SD; male to female ratio 10:3), evaluated following DSMIV- TR criteria for ADHD, was also recruited.
Sample Collection	ADHD probands were enrolled from the out-patient department of Manovikas Kendra Rehabilitation and Research Institute for the Handicapped, Kolkata. A control group, evaluated following DSMIV-TR criteria for ADHD, was also recruited.
Diagnosis Description	Structured interview, following the Diagnostic and Statistical Manual of Mental Disorders-IV-text revised version, was conducted by mental health professionals. Conners' Parents and Teachers Rating Scale was used for measuring the hyperactivity level.
Technique	Oligonucleotides used for amplifying rs1889189, rs362569, rs362988, and rs8636 were designed in the lab using Primer3 software and sites for restriction enzymes were picked up by NEB Cutter, version 2. Analyses of rs3746544 and rs1051312 were performed following the protocol of Barr et al. For analysis of rs362988, PCR amplicons were subjected to sequencing using Applied Biosystems sequencing reagent version 3.1, followed by analysis using Genetic Analyzer 3130 (Applied Biosystems).
Analysis Method	The program COCAPHASE, part of the program UNPHASED, was used for comparing allelic and genotypic frequencies between case and control groups. Family-based association studies were performed using Transmission Disequilibrium Test (TDT); the program TDTPHASE, which is also a part of UNPHASED, was utilized. TDTPHASE was also used to acquire transmission pattern of haplotypes formed between SNPs.
Result Description	While case-control analysis revealed lack of any significant difference for alleles, family-based studies revealed a mild over transmission rs3746544 'T' and rs8636 'C' alleles (P = 0.05 and 0.03 respectively). Haplotypes formed between rs362569 "T", 362988 "G", rs3746544 "T", rs1051312 "T" and rs8636 "C" in different combinations showed statistically significant transmission to ADHD probands. Excepting rs3746544 and rs8636, all the tested sites showed very low linkage disequilibrium between them. Data obtained in this preliminary study indicates that rs3746544 'T' allele may have some role in the disease etiology in the studied Indian population.

SNPs reported by this study (count: 6)

SNP	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
rs1051312	T/C		allelic P-value=1, X²=0.0 for case-control, P-value=1, X²=0.0 for family-based; genotypic P-value=0.09, X²=4.78 for case-control, P-value=0.32, X²=2.28 for family-based; X²=1.8, TDT P-value=0.18, Relative risk (95% CI)=2.25 (1.0¨C5.22)	Case-control analysis revealed lack of any significant diffe...... Case-control analysis revealed lack of any significant difference in allelic frequencies between ADHD probands, their parents and controls P>0.05. rs362569 and rs1051312 failed to reveal any preferential transmission. More...	Non-significant
rs3746544	T/G		allelic P-value=0.87, X²=0.0 for case-control, P-value=1, X²=0.0 for family-based; genotypic P-value=0.94, X²=0.11 for case-control, P-value=0.83, X²=0.36 for family-based; X²=3.89, TDT P-value=0.05, Relative risk (95% CI)=2.5 (1.3¨C4.9)	Case-control analysis revealed lack of any significant diffe...... Case-control analysis revealed lack of any significant difference in allelic frequencies between ADHD probands, their parents and controls P>0.05. rs3746544 'T' allele also showed mild over transmission from parents to probands, with a power of 67.6%, primarily due to a bias in maternal transmission. Comparative analysis of all published reports on rs3746544 also revealed statistically significant transmission of rs3746544 'T' allele. More...	Non-significant
rs8636	C/T		allelic P-value=0, X²=0.0 for case-control, P-value=0.75, X²=0.1 for family-based; genotypic P-value=0.84, X²=0.35 for case-control, P-value=0.77, X²=0.52 for family-based; X²=4.5, TDT P-value=0.03, Relative risk (95% CI)=2.6 (1.4¨C4.9)	Case-control analysis revealed lack of any significant diffe...... Case-control analysis revealed lack of any significant difference in allelic frequencies between ADHD probands, their parents and controls P>0.05. Family-based analyses showed over transmission of the derived allele 'C' of rs8636 to ADHD probands. More...	Significant
rs1889189	C/T		allelic P-value=0.47, X²=0.52 for case-control, P-value=0.39, X²=0.75 for family-based; genotypic P-value=0.29, X²=2.47 for case-control, P-value=0.13, X²=4.13 for family-based	Case-control analysis revealed lack of any significant diffe...... Case-control analysis revealed lack of any significant difference in allelic frequencies between ADHD probands, their parents and controls P>0.05. More...	Non-significant
rs362988	A/G		allelic P-value=0.31, X²=1.01 for case-control, P-value=0.47, X²=0.52 for family-based; genotypic P-value=0.47, X²=1.49 for case-control, P-value=0.59, X²=1.04 for family-based; X²=1.5, TDT P-value=0.22, Relative risk (95% CI)=0.6 (0.35¨C1.1)	Case-control analysis revealed lack of any significant diffe...... Case-control analysis revealed lack of any significant difference in allelic frequencies between ADHD probands, their parents and controls P>0.05. rs362988 'G' allele showed a bias in transmission though the difference was statistically insignificant. More...	Non-significant
rs362569	C/T		allelic P-value=0.58, X²=0.31 for case-control, P-value=0.46, X²=0.54 for family-based; genotypic P-value=0.05, X²=5.79 for case-control, P-value=0.51, X²=1.33 for family-based; X²=0.87, TDT P-value=0.35, Relative risk (95% CI)=1.5 (0.8¨C3.0)	Case-control analysis revealed lack of any significant diffe...... Case-control analysis revealed lack of any significant difference in allelic frequencies between ADHD probands, their parents and controls P>0.05. rs362569 and rs1051312 failed to reveal any preferential transmission. More...	Non-significant

Genes reported by this study (count: 1)