BiONuMeRi
Personalyzed One Carbon panel
(extended Yasko methylation panel)

BiONuMeRi tools 2016/2017
www.bionumeri.org/esami/onecarbon.html
Paziente : Lilly Mendel Data di creazione del report : 16 Apr 2024
rs id

Nome Gene

Rischio

G1

G2

Risultato

Breve descrizione

rs1801131
MTHFR A1298
G
G
T
(+/-)
Defect in folate metabolism, impacting BH4 levels
rs1801133
MTHFR C677T
A
G
G
(-/-)
Influence homocysteine levens and lowers folate levels. In homozygous mutation, sever psychomotor development and throbotic issues
rs585800
BHMT 1
T
x
x
not tested
Convert homocysteine to methionine. Together BHMT4 play a role in the gut
rs567754
BHMT 2
T
C
T
(+/-)
Convert homocysteine to methionine. Together BHMT4 play a role in the gut
rs617219
BHMT 4
C
x
x
not tested
Convert homocysteine to methionine. Together BHMT4 play a role in the gut
rs651852
BHMT 8
T
T
T
(+/+)
Convert homocysteine to methionine, BHMT8 is related to the impact that psychological stress has on attention levels
rs234706
CBS C699T
A
G
G
(-/-)
Together A360A and N212N convert homocysteine into cystathionine, when mutated lowers homocysteine level, raise ammonia, increase taurine, increase toxic sulfur products and reduce folic acid effect
rs1801181
CBS A360A
A
A
G
(+/-)
Together C699T and N212N convert homocysteine into cystathionine, when mutated lowers homocysteine level, raise ammonia, increase taurine, increase toxic sulfur products and reduce folic acid effect
rs2298758
CBS N212N
G
x
x
not tested
Together A360A and C699T convert homocysteine into cystathionine, when mutated lowers homocysteine level, raise ammonia, increase taurine, increase toxic sulfur products and reduce folic acid effect
rs773115
SUOX S370S
C
x
x
not tested
Detoxify from sulfites
rs6323
MAO A
T
T
T
(+/+)
Degrades serotonin, melatonin, epinephrine and norepinephrine. It can lower the tryptophan levels. Together a COMT V158M mutation can give mood swings. Neutralizes tyramine (+/+ reduced activity -/- increased activity)
rs1799836
MAO B
T
T
T
(+/+)
Degrades dopamine. It contributes to Parkinson's disease
rs4680
COMT V158M
A
A
G
(+/-)
Degrades dopamine. With A allele you have anxiety so high dopamine, low pain threshold, Stress vulnerability, greater cognitive performance. With G allele you are wrestler then you have low dopamine, high pain threshold, resistance to stress and lower cognitive performance. (+/+) Poorly tolerate to methyl donors.
rs4633
COMT H62H
T
C
T
(+/-)
Degrades dopamine. Susceptibility to schizophrenia
rs769224
COMT P199P
A
G
G
(-/-)
Degrades dopamine.
rs1805087
MTR A2756G
G
A
A
(-/-)
Work with MTRR to regenerate and use the B12 helping to convert homocysteine to methionine. The mutation can lower B12 levels. Converts MTHF in THF adding the methyl group to B12.
rs1801394
MTRR A66G
G
A
G
(+/-)
Work with MTR to regenerate and use the B12 helping to convert homocysteine to methionine. The mutation can lower B12 levels. Converts MTHF in THF adding the methyl group to B12.
rs10380
MTRR H595Y
T
x
x
not tested
Work with MTR to regenerate and use the B12 helping to convert homocysteine to methionine. The mutation can lower B12 levels. Converts MTHF in THF adding the methyl group to B12.
rs162036
MTRR K350A
G
A
A
(-/-)
Work with MTR to regenerate and use the B12 helping to convert homocysteine to methionine. The mutation can lower B12 levels. Converts MTHF in THF adding the methyl group to B12.
rs2287780
MTRR R415T
T
x
x
not tested
Work with MTR to regenerate and use the B12 helping to convert homocysteine to methionine. The mutation can lower B12 levels. Converts MTHF in THF adding the methyl group to B12.
rs2303080
MTRR S257T
T
x
x
not tested
Work with MTR to regenerate and use the B12 helping to convert homocysteine to methionine. The mutation can lower B12 levels. Converts MTHF in THF adding the methyl group to B12.
rs1802059
MTRR 11
A
G
G
(-/-)
(see MTR/MTRR) Generally people with MTRR11 mutated are good heavy metal excretor
rs819147
AHCY 1
C
C
T
(+/-)
The AHCY mutations limit the activity of homocysteine conversion to methionine. They can mitigate the effects of CBS mutations.
rs819134
AHCY 2
G
x
x
not tested
The AHCY mutations limit the activity of homocysteine conversion to methionine. They can mitigate the effects of CBS mutations.
rs819171
AHCY 19
C
C
T
(+/-)
The AHCY mutations limit the activity of homocysteine conversion to methionine. They can mitigate the effects of CBS mutations.
rs1979277
SHMT C1420T
A
x
x
not tested
It helps to convert folic acid into 5MTHF. It transfers a methyl group from serine 5,10-methilene THF and glycine
rs1799983
NOS3 D298E
T
x
x
not tested
Detoxify from ammonia
rs4880
SOD2 A16V
G
A
G
(+/-)
mitochondrial SOD (WARNING very difficult to identify, refer to http://www.snpedia.com/index.php/Rs4880 for alzheimer G risk allele)
rs1799895
SOD3 C760G
G
C
C
(-/-)
extracellular SOD
rs1695
GSTP1 I105V
G
G
G
(+/+)
Enzyme that promotes detoxification (Glutathione), a mutation causes a loss of function of the enzyme and less detoxification
rs1138272
GSTP1 A114V
T
C
T
(+/-)
see GSTP1 I105V
rs366631
GSTM1 -
A
A
A
(+/+)
(+/+) Double deletion results in a loss of functionality of the enzyme and less detoxification
rs731236
VDR Taq
A
A
G
(+/-)
Affects dopamine levels
rs10735810
VDR Fok
A
x
x
not tested
Affects blood sugar control and pancreatic function (possible adoption of a low-carbohydrate diet)
rs1544410
VDR Bsm
T
C
T
(+/-)
Affects dopamine levels, related to bone density. When mutated low vitamin D3 and D2 values.
rs2060793
CYP2R1 -
A
G
G
(-/-)
Activate D vitamin
rs12272004
APOA5 -
A
C
C
(-/-)
When mutated low values of Tocopherol (Vitamin E)
rs602662
FUT2 -
G
A
G
(+/-)
When mutated low vitamin B12 values.
rs4654748
NBPF3 -
C
T
T
(-/-)
When mutated low vitamin B6 values in the blood.
rs10483639
GCH1 -
C
G
G
(-/-)
Together with two other GCH1, when mutated low values of tetrabiopterine (BH4)
rs3783641
GCH1 -
A
T
T
(-/-)
Together with two other GCH1, when mutated low values of tetrabiopterine (BH4)
rs8007267
GCH1 -
T
C
C
(-/-)
Together with two other GCH1, when mutated low values of tetrabiopterine (BH4)
rs104894460
PNP -
T
C
C
(-/-)
When mutated, purine deficiency. T-cell immune deficiency
rs3741049
ACAT -
A
A
G
(+/-)
It contributes to the cholesterol synthesis and lipid balance of the cell membrane. Mediates the accumulation of oxalates. It contributes to energy production.
rs5963409
OTC -
A
A
A
(+/+)
degrades ammonia into urea, may cause high blood ammonia, Increase Alzheimer's Risk.
rs3749034
GAD1 -
G
G
G
(+/+)
Influences the GABA production, increases the risk of schizophrenia, (+/+) gaba significantly decreased, with comt v158m (+/-) (-/-) reduced cortical thickness
rs3828275
GAD1 -
T
C
T
(+/-)
(+/+) associated with post-traumatic seizures and high glutamate levels, (+/-) average glutamate levels
rs1978340
GAD1 -
G
A
G
(+/-)
Affects GABA levels. Complex attention! (+/-) Low levels, (+ / +) average levels, (- / -) high GABA levels
rs3791878
GAD1 -
G
G
T
(+/-)
Affects GABA levels. (+/+) hight Glutamate, (+/-) intermediate levels
rs72554331
OTC -
A
G
G
(-/-)
degrades ammonia into urea, if mutated high ammonia levels
rs67960011
OTC -
G
C
C
(-/-)
degrades ammonia into urea, if mutated high ammonia levels
NB: Il presente pannello e' estratto elaborando il file di esoma 23andme.com fornito dall'utente, pertanto non si certifica la veridicita' dei dati pervenuti. Il risultato del pannello non costituisce in alcun modo consiglio medico. Ogni commento di ogni singolo snp non costituisce assoluta certezza ma deve essere vagliato da un medico e verificato da indagini mirate o da prove cliniche. In questo pannello non viene presa in considerazione l'espressione genetica (epigenetica) ed i vari snp possono interferire tra loro enfatizzando o annullando determinati errori metabolici.
Per maggiori dettagli e la bibliografia consultare la pagina http://www.bionumeri.org/esami/onecarbon.html