RGD Reference Report - Hypercholesterolemia associated with splice-junction variation of inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) gene. - Rat Genome Database

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Hypercholesterolemia associated with splice-junction variation of inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) gene.

Authors: Fujita, Y  Ezura, Y  Emi, M  Sato, K  Takada, D  Iino, Y  Katayama, Y  Takahashi, K  Kamimura, K  Bujo, H  Saito, Y 
Citation: Fujita Y, etal., J Hum Genet. 2004;49(1):24-8. Epub 2003 Dec 6.
RGD ID: 1627650
Pubmed: PMID:14661079   (View Abstract at PubMed)
DOI: DOI:10.1007/s10038-003-0101-8   (Journal Full-text)

Factors predisposing to the phenotypic features of higher total cholesterol (T-Cho) have not been clearly defined. Here we report an association between a C/T single nucleotide polymorphism at IVS17+8 in the inter-alpha-trypsin inhibitor heavy chain 4 gene (ITIH4) and plasma total cholesterol levels in 351 adult individuals from an east-central area of Japan. Age and gender-adjusted levels of plasma T-Cho, LDL-cholesterol, triglyceride, and HDL-cholesterol were analyzed. When we separate the subjects into two genotypic groups regarding this single nucleotide polymorphism (SNP), those who lack the T-allele had significantly higher plasma T-Cho levels than the others who bear T-allele (mean 252.3 mg/dl versus 241.7 mg/dl; p=0.009). Of the 309 individuals without the T-allele, approximately 90% presented with hypercholesterolemia, whereas only 10% were hypercholesterolemic among 42 individuals with the T-allele (p <0.0001). These data suggest that genetic variation at ITIH4 locus is one of the likely candidate determinants for plasma cholesterol metabolisms.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Hypercholesterolemia susceptibilityIAGP 1627650DNA:SNP:intron:rs3821831 and homozygous C allele associated with higher total and HDL cholesterolRGD 
Hypercholesterolemia susceptibilityISOITIH4 (Homo sapiens)1627650; 1627650 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Itih4  (inter-alpha-trypsin inhibitor heavy chain 4)

Genes (Mus musculus)
Itih4  (inter alpha-trypsin inhibitor, heavy chain 4)

Genes (Homo sapiens)
ITIH4  (inter-alpha-trypsin inhibitor heavy chain 4)


Additional Information