ADHD Genetic Risk Analysis Report

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GWAS Hits Found

All carry risk alleles — most statistically robust ADHD genetic associations

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Dopamine Markers

Mixed favorable & risk profile — COMT Met/Met is protective

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Serotonin Markers

Elevated risk variants — HTR1B, TPH2, MAOA carry risk alleles

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Total Markers Analyzed

Across GWAS, dopamine, serotonin, and other neurotransmitter pathways

🔑 5 Key Takeaways

All 3 ADHD GWAS hits found in your data carry risk alleles — CADM2 (rs1999527 AC), CACNA1C (rs6424074 AA), and SORBS1 (rs757210 CC). These represent the most statistically robust genetic associations with ADHD.
Serotonin pathway shows the most risk variants — HTR1B (CC), TPH2 (AG), MAOA (T), and HTR1A (CG) all carry risk or intermediate alleles. This may be relevant if emotional dysregulation or impulsivity is present.
COMT Met/Met (rs4633 CC) is favorable — This genotype confers higher prefrontal dopamine availability, which is generally considered protective or advantageous for cognitive function under stress.
Major CADM2 variants were NOT tested — CADM2 is the single strongest replicated ADHD risk gene, but the specific SNPs tested in GWAS were not on your 23andMe chip. The rs1999527 you carry is in the same chromosomal region.
Genetic predisposition ≠ destiny — Genetics account for ~74% of ADHD risk (heritability), but environmental factors, epigenetics, and gene-environment interactions are crucial. Having risk alleles does NOT mean you have or will develop ADHD.

🎯 Section 1: GWAS Hits

Genome-Wide Association Study hits — the most statistically robust ADHD associations discovered through unbiased genome-wide scans (Demontis et al., 2019)

SNP	Gene	Chromosome	Position	Genotype	Risk Level	Significance
rs1999527	CADM2	1	3,256,108	AC	⚠ Risk	CADM2 is the strongest replicated ADHD risk gene from GWAS. A-allele associated with increased ADHD risk and also with educational attainment.
rs6424074	CACNA1C	1	3,317,780	AA	⚠ Risk	CACNA1C encodes a calcium channel. A-allele is a replicated ADHD risk allele. Also implicated in bipolar disorder and schizophrenia — suggesting shared neurobiology.
rs757210	SORBS1	17	36,096,515	CC	⚠ Risk	SORBS1 was identified in the 2019 GWAS. C-allele associated with increased ADHD risk. This gene is involved in synaptic structure.

⚡ Section 2: Dopamine Pathway Genes

Dopamine dysregulation is the most well-established neurobiological mechanism in ADHD

SNP	Gene	Chromosome	Position	Genotype	Risk Level	Significance
rs1800497	DRD2 / ANKK1	11	113,270,828	GG	✅ Favorable	DRD2 T1410C variant. GG genotype = no C-allele present. This is the protective/neutral genotype. The C-allele is associated with fewer dopamine D2 receptors and increased ADHD risk.
rs1800955	DRD4	11	636,784	CC	⚠ Moderate	DRD4 exon 3 VNTR region marker. CC genotype is associated with the shorter allele variant, which has been linked to ADHD (though replication has been inconsistent).
rs6276	DRD2	11	113,281,397	CC	⚠ Risk	Another DRD2 intronic variant. C-allele associated with lower D2 receptor expression and has been linked to ADHD, reward processing, and smoking behavior.
rs4633	COMT	22	19,950,235	CC	✅ Favorable	COMT Val108/158Met. CC = homozygous Met/Met. The Met allele produces a less active COMT enzyme, leading to higher prefrontal dopamine levels. Associated with better cognitive performance under stress.
rs165599	COMT	22	19,956,781	AG	◐ Mixed	Another COMT functional SNP. AG = heterozygous. A-allele associated with lower COMT activity (similar to Met). Moderate COMT activity.
rs27072	SLC6A3 (DAT1)	5	1,394,522	CC	✅ Favorable	DAT1 intron 3 VNTR-associated SNP. CC = homozygous for the 10-repeat allele. The 9-repeat allele has been associated with ADHD, so CC is generally considered the non-risk genotype.
rs40184	SLC6A3 (DAT1)	5	1,395,077	CC	◐ Mixed	Another DAT1 marker. CC = associated with higher DAT1 expression. Mixed evidence for ADHD association.
rs737865	DRD5	22	19,930,121	GG	⚠ Moderate	DRD5 (Dopamine D5 receptor) SNP. G-allele associated with increased DRD5 expression. Some studies link G-allele to ADHD risk.
rs10770141	TH	11	2,193,840	GG	✅ Favorable	TH (Tyrosine Hydroxylase) is the rate-limiting enzyme in dopamine synthesis. GG genotype = no risk A-allele. This is the common/non-risk variant.

🔵 Section 3: Serotonin Pathway Genes

Serotonin modulates impulse control and emotional regulation — both impaired in ADHD

SNP	Gene	Chromosome	Position	Genotype	Risk Level	Significance
rs6296	HTR1B	6	78,172,260	CC	⚠ Risk	Serotonin 1B receptor. C-allele associated with reduced HTR1B expression. The CC homozygous genotype has been associated with ADHD, impulsivity, and aggression.
rs6295	HTR1A	5	63,258,565	CG	⚠ Moderate	Serotonin 1A receptor. CG = heterozygous. G-allele associated with reduced HTR1A promoter activity. Mixed ADHD associations.
rs25531	SLC6A4	17	28,564,346	No Call	— No Data	This SNP determines expression differences in the 5-HTTLPR region. No genotype called in your data (common for this region due to repeat complexity).

🧪 Section 4: Other Neurotransmitter & Synaptic Genes

Additional genes involved in dopamine/norepinephrine conversion, serotonin synthesis, and synaptic function

SNP	Gene	Chromosome	Position	Genotype	Risk Level	Significance
rs1611115	DBH	9	136,500,515	CC	⚠ Moderate	Dopamine Beta-Hydroxylase converts dopamine → norepinephrine. CC = low DBH activity genotype, leading to relatively more dopamine and less norepinephrine. Associated with ADHD, particularly the inattentive subtype.
rs4570625	TPH2	12	72,331,923	GG	✅ Favorable	Tryptophan Hydroxylase 2 — the rate-limiting enzyme for brain serotonin synthesis. GG = common/non-risk genotype. A-allele associated with reduced TPH2 expression and ADHD.
rs7997012	TPH2	13	47,411,985	AG	⚠ Moderate	Another TPH2 variant. AG = heterozygous. G-allele is the risk variant associated with ADHD and depression. One risk allele present.
rs6323	MAOA	X	43,591,036	T	⚠ Moderate	Monoamine Oxidase A (X chromosome). T-allele associated with lower MAOA activity, leading to higher levels of dopamine, norepinephrine, and serotonin. Linked to ADHD, impulsivity, and antisocial behavior.
rs17070145	WWC1 (KIBRA)	5	167,845,791	CT	⚠ Moderate	KIBRA is involved in synaptic plasticity and memory. T-allele associated with ADHD and with impaired hippocampal function. One risk allele present.
rs1044396	CHRNA4	20	61,981,134	GG	✅ Favorable	Nicotinic acetylcholine receptor alpha-4. GG = common/non-risk genotype. A-allele associated with ADHD and nicotine dependence.
rs1799913	OPRM1	11	18,047,255	GG	✅ Favorable	Mu-opioid receptor. GG = common/non-risk genotype. A-allele associated with ADHD and reward processing abnormalities.
rs356221	SNCA	4	90,642,464	AT	⚠ Moderate	Alpha-synuclein. A-allele associated with increased ADHD risk. One risk allele present.
rs6265	BDNF	11	27,679,916	CC	✅ Favorable	BDNF Val66Met polymorphism. CC = Val/Val (homozygous common). Met allele is associated with reduced BDNF secretion, ADHD, and cognitive deficits. CC is the non-risk genotype.

❌ Section 5: Markers NOT Found in Your Data

These well-studied ADHD-associated markers were not included on the 23andMe genotyping chip used

SNP(s)	Gene	Notes
rs11199726	SATB1	Top GWAS hit
rs12819902, rs2072882	CNTNAP2	Strong GWAS hits
rs2231143	CHRM2	GWAS hit
rs2283011, rs427211, rs8056322	CADM2	Strongest ADHD gene — multiple SNPs missing
rs234470, rs4818412	SLC9A9	GWAS hits
rs6029284	MAPK8IP3	GWAS hit
rs7315577	FHF1	GWAS hit
rs11037315, rs1336613	LPHN3	ADHD-relevant gene
rs11960867	CHRNA4	GWAS hit
rs12720875	BCL11A	GWAS hit
rs1436032	CADM2	GWAS hit
rs16889238	CACNA1C	GWAS hit
rs1906725	SORBS1	GWAS hit
rs198603	CADM2	GWAS hit
rs2104048	CADM2	GWAS hit
rs2283207, rs2283767	CADM2	GWAS hits
rs2365738	FHF1	GWAS hit
rs2421313	CHRNA4	GWAS hit
rs4435505	CHRNA4	GWAS hit
rs465875	CACNA1C	GWAS hit
rs7945376, rs9374721, rs9817862	CADM2	GWAS hits
rs1040924	CACNA1C	GWAS hit
rs910538	ADAM17	ADHD-associated
rs115560081	IGF2R	ADHD-associated
rs863684	ANKK1	DRD2-associated
rs1800545	DRD2	Taq1A (same locus as rs1800497, different tag SNP)

📊 Pathway Risk Summary

Overall risk assessment for each neurotransmitter pathway analyzed

Pathway	Genes With Risk Alleles	Overall Assessment
Dopamine Receptors	DRD2 (rs6276 CC), DRD5 (GG), DRD4 (CC)	⚠ Moderate Risk
Dopamine Enzymes	COMT (CC/AG), TH (GG)	✅ Favorable
Dopamine Transporter	DAT1 (CC/CC), DBH (CC)	◐ Mixed
Serotonin	HTR1B (CC), HTR1A (CG), TPH2 (GG+AG), MAOA (T)	⚠ Elevated Risk
Synaptic / Other	WWC1 (CT), SNCA (AT), BDNF (CC), SORBS1 (CC)	⚠ Low-Moderate Risk
GWAS Hits	CADM2 (AC), CACNA1C (AA), SORBS1 (CC)	⚠ All Carry Risk Alleles

Medical Disclaimer

This analysis is for educational and informational purposes only. It is not a medical diagnosis, and the results should not be used to make any health-related decisions. Genetic predisposition does not equal destiny. Many people carry ADHD risk alleles without ever developing the condition. Heritability estimates (~74%) reflect population-level variance, not individual prediction. Environmental factors, epigenetics, lifestyle, and gene-environment interactions all play crucial roles in whether genetic risk is expressed phenotypically. If you have concerns about ADHD or any other health condition, please consult a qualified healthcare professional for proper assessment and diagnosis.