HNF1A I27L - GET-Evidence

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

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Curation:
Currentness:

HNF1A I27L

(HNF1A Ile27Leu)


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

  • C @ chr12:121416650: 26.0% (2794/10752) in EVS
  • C @ chr12:119901032: 22.6% (28/124) in GET-Evidence
  • Frequency shown in summary reports: 26.0% (2794/10752)

Publications
 

Reiner AP, Barber MJ, Guan Y, Ridker PM, Lange LA, Chasman DI, Walston JD, Cooper GM, Jenny NS, Rieder MJ, Durda JP, Smith JD, Novembre J, Tracy RP, Rotter JI, Stephens M, Nickerson DA, Krauss RM. Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. Am J Hum Genet. 2008 May;82(5):1193-201. Epub 2008 Apr 24. PubMed PMID: 18439552; PubMed Central PMCID: PMC2427318.

 

Giuffrida FM, Furuzawa GK, Kasamatsu TS, Oliveira MM, Reis AF, Dib SA. HNF1A gene polymorphisms and cardiovascular risk factors in individuals with late-onset autosomal dominant diabetes: a cross-sectional study. Cardiovasc Diabetol. 2009 Jun 2;8:28. PubMed PMID: 19490620; PubMed Central PMCID: PMC2696421.

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr12:121416650

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr12:121416650

 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr12:121416650

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr12:121416650

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom C @ chr12:121416650

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr12:121416650

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr12:121416650

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr12:121416650

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom C @ chr12:121416650

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr12:121416650

 

huC30901

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr12:121416650

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr12:119901033

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr12:119901033

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr12:119901033

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr12:119901033

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr12:119901033

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr12:119901033

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr12:119901033

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr12:119901033

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr12:119901033

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr12:119901033

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr12:119901033

 

GS19648 - var-GS19648-1100-36-ASM
hom C @ chr12:119901033

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr12:119901033

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr12:119901033

 

Other external references
 

    dbSNP
  • rs1169288
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Cardiovascular Diseases]
    In a candidate gene-based association analysis of 4333 European-descended, age 65 or older, subjects from the CHS (Cardiovascular Health Study), this was one of the SNPs most strongly associated with plasma C-reactive protein levels. The minor allele is part of a haplotype of frequency 30% which was associated with lower levels of CRP.
    www.ncbi.nlm.nih.gov/pubmed/18439552
    Web search results (69 hits -- see all)
  • Search Results - Lund University
    The frequency of the L allele of the HNF1A I27L polymorphism was slightly higher in GDM than in controls ... and the I27L polymorphism of HNF1A seem to increase the risk of GDM ...
    www.lu.se/o.o.i.s?id=12683&postid=155725
  • The genetic susceptibility to type 2 diabetes may be ...
    METHODS: We genotyped RETN, KCNJ11, HNF4A, HNF1A, GCK, SLC30A8, ENPP1, ADIPOQ, PPARG, and TCF7L2 ... significant T2D associations with HNF1A I27L [odds ratio (OR) = 1.14, ...
    www.ncbi.nlm.nih.gov/pubmed/18498634
  • The genetic susceptibility to type 2 diabetes may be ...
    The risk alleles of HNF1A I27L (OR = 1.14, P = 0.04), GCK -30G>A (OR ... rs7903146 and ENPP1 K121Q, and suggested for ADIPOQ 11377C>G and HNF1A I27L SNPs. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2412856
  • BioMed Central | Full text | The genetic susceptibility to ...
    The risk alleles of HNF1A I27L (OR = 1.14, P = 0.04), GCK -30G>A (OR ... rs7903146 and ENPP1 K121Q, and suggested for ADIPOQ 11377C>G and HNF1A I27L SNPs. ...
    www.biomedcentral.com/1471-2350/9/45
  • IDF-GD Lille 2003 - Abstracts
    Aim: To evaluate the influence of common variants (I27L and S487N) in the HNF1a gene on changes in glucose and insulin levels by time and risk of developing T2DM. ...
    www-good.ibl.fr/idf-gd/posters/topic1/poster_45.htm
  • BMC Medical Genetics
    Methods: We genotyped RETN, KCNJ11, HNF4A, HNF1A, GCK, SLC30A8, ENPP1, ADIPOQ, PPARG, ... significant associations with HNF1A I27L (OR = 0.96, P = 0.53), GCK ...
    www.biomedcentral.com/content/pdf/1471-2350-9-45.pdf
  • Directory of open access journals
    We genotyped RETN, KCNJ11, HNF4A, HNF1A, GCK, SLC30A8, ENPP1, ADIPOQ, PPARG, and ... significant T2D associations with HNF1A I27L [odds ratio (OR) = 1.14, ...
    www.doaj.org/doaj?func=abstract&id=271340&recNo=45&toc=1
  • HNF1A gene polymorphisms and cardiovascular risk factors in ...
    I27L showed "protective effect" upon hypertriglyceridemia in this sample of individuals, ... HNF1A mutated with variants I27L, A98V and S487N has been demonstrated to have ...
    www.cardiab.com/content/xml/1475-2840-8-28.xml
  • IDF-GD Lille 2003 - Abstracts
    Hnf1a, which causes MODY3, is of special interest because it is ... I27L and S487N, was selected to uniquely distinguish the >2% haplotypes in the Hnf1a ...
    www-good.ibl.fr/idf-gd/posters/topic1/poster_39.htm

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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