BDNF V148M - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

BDNF V148M

(BDNF Val148Met)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr11:27679916: 13.8% (1482/10758) in EVS
  • Frequency shown in summary reports: 13.8% (1482/10758)

Publications
 

Rosa A, Cuesta MJ, Fatjó-Vilas M, Peralta V, Zarzuela A, Fañanás L. The Val66Met polymorphism of the brain-derived neurotrophic factor gene is associated with risk for psychosis: evidence from a family-based association study. Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):135-8. PubMed PMID: 16389585.

 

Choi MJ, Kang RH, Lim SW, Oh KS, Lee MS. Brain-derived neurotrophic factor gene polymorphism (Val66Met) and citalopram response in major depressive disorder. Brain Res. 2006 Nov 6;1118(1):176-82. Epub 2006 Sep 18. PubMed PMID: 16979146.

 

Yoshida K, Higuchi H, Kamata M, Takahashi H, Inoue K, Suzuki T, Itoh K, Ozaki N. The G196A polymorphism of the brain-derived neurotrophic factor gene and the antidepressant effect of milnacipran and fluvoxamine. J Psychopharmacol. 2007 Aug;21(6):650-6. Epub 2006 Nov 8. PubMed PMID: 17092970.

 

Hünnerkopf R, Strobel A, Gutknecht L, Brocke B, Lesch KP. Interaction between BDNF Val66Met and dopamine transporter gene variation influences anxiety-related traits. Neuropsychopharmacology. 2007 Dec;32(12):2552-60. Epub 2007 Mar 28. PubMed PMID: 17392738.

 

Sarchiapone M, Carli V, Roy A, Iacoviello L, Cuomo C, Latella MC, di Giannantonio M, Janiri L, de Gaetano M, Janal MN. Association of polymorphism (Val66Met) of brain-derived neurotrophic factor with suicide attempts in depressed patients. Neuropsychobiology. 2008;57(3):139-45. doi: 10.1159/000142361. Epub 2008 Jul 7. PubMed PMID: 18600033.

 

Shugart YY, Chen L, Day IN, Lewis SJ, Timpson NJ, Yuan W, Abdollahi MR, Ring SM, Ebrahim S, Golding J, Lawlor DA, Davey-Smith G. Two British women studies replicated the association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) and BMI. Eur J Hum Genet. 2009 Aug;17(8):1050-5. doi: 10.1038/ejhg.2008.272. Epub 2009 Feb 11. PubMed PMID: 19209189; PubMed Central PMCID: PMC2986560.

 

Licinio J, Dong C, Wong ML. Novel sequence variations in the brain-derived neurotrophic factor gene and association with major depression and antidepressant treatment response. Arch Gen Psychiatry. 2009 May;66(5):488-97. PubMed PMID: 19414708.

 

Lee Y, Lim SW, Kim SY, Chung JW, Kim J, Myung W, Song J, Kim S, Carroll BJ, Kim DK. Association between the BDNF Val66Met Polymorphism and Chronicity of Depression. Psychiatry Investig. 2013 Mar;10(1):56-61. doi: 10.4306/pi.2013.10.1.56. Epub 2013 Jan 24. PubMed PMID: 23482723; PubMed Central PMCID: PMC3590431.

 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr11:27679916

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr11:27679916

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom T @ chr11:27679916

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom T @ chr11:27679916

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr11:27679916

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr11:27679916

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr11:27679916

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom T @ chr11:27679916

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr11:27679916

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr11:27679916

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr11:27679916

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr11:27679916

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr11:27679916

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr11:27679916

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr11:27679916

 

Other external references
 

    dbSNP
  • rs6265
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GWAS
  • Body mass index (rs6265-G)
    Thorleifsson 14-Dec-08 in Nat Genet
    OR or beta: 4.58 [3.07-6.09] % SD
    Risk allele frequency: 0.85
    p-value: 5.00E-10
    Initial sample: 80,969 individuals
    Replication sample: 11,036 individuals
    www.ncbi.nlm.nih.gov/pubmed/19079260
  • Weight (rs6265-G)
    Thorleifsson 14-Dec-08 in Nat Genet
    OR or beta: 4 [2.47-5.53] % SD
    Risk allele frequency: 0.85
    p-value: 2.00E-07
    Initial sample: 80,969 individuals
    Replication sample: 11,036 individuals
    www.ncbi.nlm.nih.gov/pubmed/19079260

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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