Abstract:
:Type 2 diabetes mellitus (T2DM) is a group of multifactorial disorders due to either defective insulin secretion or action. Despite the fact that numerous genetic researches of T2DM have been pursued, the pathogenic mechanisms remain obscure. We encountered a T2DM family associated with a balanced reciprocal translocation, t(3;9)(p21.31;q33.1). To isolate a candidate gene susceptible to T2DM, we constructed physical maps covering both the 3p and 9q breakpoints of the translocation in the family. Consequently, the inositol hexaphosphate kinase 1 gene ( IHPK1) (OMIM *606991) was found to be disrupted at the 3p21.31 breakpoint. We then carried out sequence analysis for all coding regions of IHPK1 in 405 unrelated T2DM patients in order to validate whether aberrations of the gene are common in T2DM patients, but we failed to detect any pathogenic changes. The disruption of IHPK1 or another predisposing gene affected by position effect of the translocation may explain the T2DM phenotype at least in this family. Alternatively, the IHPK1 disruption in the family is a chance association.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Kamimura J,Wakui K,Kadowaki H,Watanabe Y,Miyake K,Harada N,Sakamoto M,Kinoshita A,Yoshiura KI,Ohta T,Kishino T,Ishikawa M,Kasuga M,Fukushima Y,Niikawa N,Matsumoto Ndoi
10.1007/s10038-004-0158-zkeywords:
subject
Has Abstractpub_date
2004-01-01 00:00:00pages
360-365issue
7eissn
1434-5161issn
1435-232Xpii
10.1007/s10038-004-0158-zjournal_volume
49pub_type
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