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http://purl.uniprot.org/citations/20124734http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/20124734http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/20124734http://www.w3.org/2000/01/rdf-schema#comment"

Aim

The autosomal recessive hypercholesterolemia (ARH) gene is located on chromosome 1p35 and encodes a 308-amino acid protein containing a phosphotyrosine-binding domain. Several researchers have identified mutations of ARH that cause autosomal recessive hypercholesterolemia; however, it remains unknown whether this gene is involved in common hypercholesterolemia.

Methods and results

We searched for polymorphisms of the ARH gene by denaturing high-performance liquid chromatography and direct sequencing. We identified 18 single nucleotide polymorphisms of the gene, including 9 novel polymorphisms, and determined 2 haplotype blocks. No association was observed between common hypercholesterolemia and any polymorphisms or haplotypes of the ARH gene; however, we newly identified a rare Thr56Met missense mutation located in the phosphotyrosine-binding domain, which is the functional domain responsible for cholesterol metabolism. Among 1,800 Japanese individuals enrolled in the Suita study, only 4 were heterozygous for Thr56Met and all had hypercholesterolemia. The total cholesterol level and low-density lipoprotein cholesterol level of diabetic patients with the Thr56Met missense mutation was 276.3+/-13.8 mg/dL and 185.3+/-7.37 mg/dL, respectively.

Conclusions

Because the Thr56Met missense mutation occurs in an orthologously conserved functional domain and all subjects with the mutation had hypercholesterolemia resembling familiar hypercholesterolemia, it may be a cause of familial hypercholesterolemia."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.org/dc/terms/identifier"doi:10.5551/jat.2873"xsd:string
http://purl.uniprot.org/citations/20124734http://purl.org/dc/terms/identifier"doi:10.5551/jat.2873"xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Ohta N."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Ohta N."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Harada K."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Harada K."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Makino H."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Makino H."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Okamura T."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Okamura T."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Saito Y."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Saito Y."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Miyamoto Y."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Miyamoto Y."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Tomoike H."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Tomoike H."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Morisaki H."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Morisaki H."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Morisaki T."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Morisaki T."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Yamanaka I."xsd:string
http://purl.uniprot.org/citations/20124734http://purl.uniprot.org/core/author"Yamanaka I."xsd:string
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