当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population.

No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population.

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.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Keshavarz P,Inoue H,Sakamoto Y,Kunika K,Tanahashi T,Nakamura N,Yoshikawa T,Yasui N,Shiota H,Itakura M

doi

10.1007/s10038-006-0399-0

subject

Has Abstract

pub_date

2006-01-01 00:00:00

pages

559-566

issue

6

eissn

1434-5161

issn

1435-232X

pii

10.1007/s10038-006-0399-0

journal_volume

51

pub_type

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