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- Title
No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population.
- Authors
Keshavarz, Parvaneh; Inoue, Hiroshi; Sakamoto, Yukiko; Kunika, Kiyoshi; Tanahashi, Toshihito; Nakamura, Naoto; Yoshikawa, Toshikazu; Yasui, Natsuo; Shiota, Hiroshi; Itakura, Mitsuo
- Abstract
Ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1, also known as PC-1) inhibits insulin signal transduction pathway(s). Previous studies have demonstrated the K121Q variant of the ENPP1 gene to have a significant functional role in determining susceptibility to insulin resistance and type 2 diabetes (T2D). To assess whether the K121Q variant has any impact on T2D in Japanese, we undertook an extensive case-control association study using a total of 911 unrelated Japanese T2D patients and 876 control subjects. No significant difference was observed in either genotype distribution ( P=0.95) or allele frequency ( P=0.83) between T2D and control groups. Notably, the frequency of the ancestral Q121 allele, which is also present in other primates, was quite high in African-Americans, and showed a marked ethnic variation (77.3% in African-Americans, 16.7% in European Americans, 10.5% in Japanese and 4.2% in Han Chinese). Consequently, the pairwise F ST value (a classic measure of genetic distance between pairs of population) showed highly significant differentiations between African-American and non-African-American populations ( F ST>0.3). Our results indicated that the K121Q variant of the ENPP1 gene has very little, if any, impact on T2D susceptibility in Japanese, but may play a role in the inter-ethnic variability in insulin resistance and T2D.
- Subjects
JAPAN; TYPE 2 diabetes; PHOSPHODIESTERASES; GENETIC disorders; HUMAN genetics
- Publication
Journal of Human Genetics, 2006, Vol 51, Issue 6, p559
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1007/s10038-006-0399-0