PPARA L162V - GET-Evidence

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

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Curation:
Currentness:

PPARA L162V

(PPARA Leu162Val)


Short summary

May be associated with the development of stage C heart failure.

Variant evidence
Computational -
Functional 2

See Arias T et al. 2011 (21430558).

Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability 1

See Arias T et al. 2011 (21430558).

Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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

  • G @ chr22:46614274: 4.5% (485/10758) in EVS
  • G @ chr22:44992937: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 4.5% (485/10758)

Publications
 

Vohl MC, Lepage P, Gaudet D, Brewer CG, Bétard C, Perron P, Houde G, Cellier C, Faith JM, Després JP, Morgan K, Hudson TJ. Molecular scanning of the human PPARa gene: association of the L162v mutation with hyperapobetalipoproteinemia. J Lipid Res. 2000 Jun;41(6):945-52. PubMed PMID: 10828087.

 

Tai ES, Demissie S, Cupples LA, Corella D, Wilson PW, Schaefer EJ, Ordovas JM. Association between the PPARA L162V polymorphism and plasma lipid levels: the Framingham Offspring Study. Arterioscler Thromb Vasc Biol. 2002 May 1;22(5):805-10. PubMed PMID: 12006394.

 

Tai ES, Corella D, Demissie S, Cupples LA, Coltell O, Schaefer EJ, Tucker KL, Ordovas JM; Framingham heart study. Polyunsaturated fatty acids interact with the PPARA-L162V polymorphism to affect plasma triglyceride and apolipoprotein C-III concentrations in the Framingham Heart Study. J Nutr. 2005 Mar;135(3):397-403. PubMed PMID: 15735069.

 

Doney AS, Fischer B, Lee SP, Morris AD, Leese G, Palmer CN. Association of common variation in the PPARA gene with incident myocardial infarction in individuals with type 2 diabetes: a Go-DARTS study. Nucl Recept. 2005 Nov 25;3:4. PubMed PMID: 16309557; PubMed Central PMCID: PMC1318486.

 

Silbernagel G, Stefan N, Hoffmann MM, Machicao-Arano F, Machann J, Schick F, Winkelmann BR, Boehm BO, Häring HU, Fritsche A, März W. The L162V polymorphism of the peroxisome proliferator activated receptor alpha gene (PPARA) is not associated with type 2 diabetes, BMI or body fat composition. Exp Clin Endocrinol Diabetes. 2009 Mar;117(3):113-8. Epub 2008 Aug 25. PubMed PMID: 18726867.

 

Arias T, Beaumont J, López B, Zalba G, Beloqui O, Barba J, Valencia F, Gómez-Doblas JJ, De Teresa E, Díez J. Association of the peroxisome proliferator-activated receptor α gene L162V polymorphism with stage C heart failure. J Hypertens. 2011 May;29(5):876-83. PubMed PMID: 21430558.

 

Genomes
 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr22:46614274

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr22:46614274

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr22:46614274

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr22:46614274

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr22:46614274

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr22:46614274

 

Other external references
 

    dbSNP
  • rs1800206
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.013 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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