RGD Reference Report - A Polymorphism in Hepatocyte Nuclear Factor 1 Alpha, rs7310409, Is Associated with Left Main Coronary Artery Disease. - Rat Genome Database

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A Polymorphism in Hepatocyte Nuclear Factor 1 Alpha, rs7310409, Is Associated with Left Main Coronary Artery Disease.

Authors: Liu, Rui  Liu, Hanning  Gu, Haiyong  Teng, Xiao  Nie, Yu  Zhou, Zhou  Zhao, Yan  Hu, Shengshou  Zheng, Zhe 
Citation: Liu R, etal., Biochem Res Int. 2014;2014:924105. doi: 10.1155/2014/924105. Epub 2014 Aug 18.
RGD ID: 329901832
Pubmed: PMID:25202455   (View Abstract at PubMed)
PMCID: PMC4151485   (View Article at PubMed Central)
DOI: DOI:10.1155/2014/924105   (Journal Full-text)

Coronary artery disease is the leading cause of mortality and morbidity in the world. Left main coronary artery disease (LMCAD) is a particularly severe phenotypic form of CAD and has a genetic basis. We hypothesized that some inflammation- and hyperhomocysteinemia-related gene polymorphisms may contribute to LMCAD susceptibility in a Chinese population. We studied the association between polymorphisms in the genes hepatocyte nuclear factor 1 alpha (HNF1A; rs7310409, G/A), C-reactive protein (rs1800947 and rs3093059 T/C), methylenetetrahydrofolate reductase (rs1801133, C/T), and methylenetetrahydrofolate dehydrogenase (rs1076991, A/G) in 402 LMCAD and 804 more peripheral CAD patients in a Chinese population. Genotyping was performed using the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry method. When the HNF1A rs7310409 GG homozygote genotype was used as the reference group, both the individual, GA and AA, and combined GA/AA genotypes were associated with an increased risk of LMCAD. This single nucleotide polymorphism (rs7310409) is strongly associated with plasma CRP levels. In conclusion, the present study provides evidence that the HNF1A rs7310409 G/A functional polymorphism may contribute to the risk of LMCAD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
coronary artery disease susceptibilityIAGP 329901832DNA:SNP:intron 1: (rs7310409) G>A (human)RGD 
coronary artery disease susceptibilityISOHNF1A (Homo sapiens)329901832; 329901832DNA:SNP:intron 1: (rs7310409) G>A (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal coronary artery morphology susceptibilityIAGP 329901832DNA:SNP:intron 1: (rs7310409) G>A (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Hnf1a  (HNF1 homeobox A)

Genes (Mus musculus)
Hnf1a  (HNF1 homeobox A)

Genes (Homo sapiens)
HNF1A  (HNF1 homeobox A)


Additional Information