Document Detail

Association of the prohormone convertase 2 gene (PCSK2) on chromosome 20 with NIDDM in Japanese subjects.
MedLine Citation:
PMID:  7698505     Owner:  NLM     Status:  MEDLINE    
Proinsulin is converted to insulin by the concerted action of two sequence-specific subtilisin-like proteases termed prohormone convertase 2 (PC2) and prohormone convertase 3. PC2 is a type II proinsulin-processing enzyme, and it cleaves the proinsulin molecule on the COOH-terminal side of dibasic peptide, Lys64-Arg65, which joins the C-peptide and the A-chain domains. We have previously cloned and characterized the exon-intron organization of the human PC2 gene (gene symbol PCSK2), localized this gene to human chromosome 20 band p11.2 by fluorescence in situ hybridization, and identified a simple tandem-repeat DNA polymorphism (STRP) in intron 2 of the form (CA)n, suitable for genetic studies. Since non-insulin-dependent diabetes mellitus (NIDDM) is associated with increased secretion of proinsulin and proinsulin-like molecules, we conducted a case-control study to determine whether a genetic variation in PCSK2 might contribute to the development of NIDDM. The study population consisted of 152 Japanese NIDDM subjects and 102 normal healthy nondiabetic control subjects matched for age and body mass index. The subjects were genotyped at the STRP in intron 2, and the results indicated a significant difference (P = 0.004) in the overall allele frequency distribution between the two groups. The A1 allele was found more frequently in NIDDM than in nondiabetic subjects (11 vs. 4%, P = 0.0068). The NIDDM patients were divided into two subgroups according to the presence or absence of the A1 allele.(ABSTRACT TRUNCATED AT 250 WORDS)
H Yoshida; S Ohagi; T Sanke; H Furuta; M Furuta; K Nanjo
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Diabetes     Volume:  44     ISSN:  0012-1797     ISO Abbreviation:  Diabetes     Publication Date:  1995 Apr 
Date Detail:
Created Date:  1995-05-02     Completed Date:  1995-05-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0372763     Medline TA:  Diabetes     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  389-93     Citation Subset:  AIM; IM    
First Department of Medicine, Wakayama University of Medical Science, Japan.
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MeSH Terms
Base Sequence
Chromosomes, Human, Pair 20
DNA Primers / chemistry
Diabetes Mellitus, Type 2 / genetics*
Gene Frequency
Molecular Sequence Data
Polymorphism, Single-Stranded Conformational
Proprotein Convertase 2
Subtilisins / genetics*
Reg. No./Substance:
0/DNA Primers; EC 3.4.21.-/Subtilisins; EC Convertase 2

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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