rs712701
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PAX4 rs712701 was not associated with T2D but it was in linkage disequilibrium with rs2233580.
|
27334367 |
2016 |
rs2233580
|
|
|
0.740 |
GeneticVariation |
BEFREE |
PAX4 R192H is associated with younger onset of Type 2 diabetes in East Asians in Singapore.
|
30528630 |
2019 |
rs2233580
|
|
|
0.740 |
GeneticVariation |
BEFREE |
In the discovery stage, an Asian-specific coding variant rs2233580 (p.Arg192His) in PAX4, and two variants at the known loci, CDKN2B-AS1 and KCNQ1, were significantly associated with type 2 diabetes with exome-wide significance (p <sub>discovery</sub> < 6.45 × 10<sup>-7</sup>).
|
27744525 |
2017 |
rs2233580
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We identified the association of a PAX4 Asian-specific missense variant rs2233580 with type 2 diabetes in an exome-chip association analysis, supporting the involvement of PAX4 in the pathogenesis of type 2 diabetes.
|
27744525 |
2017 |
rs2233580
|
|
|
0.740 |
GeneticVariation |
BEFREE |
PAX4 rs712701 was not associated with T2D</span> but it was in linkage disequilibrium with rs2233580</span>.
|
27334367 |
2016 |
rs2233580
|
|
|
0.740 |
GeneticVariation |
BEFREE |
These results suggested that PAX4 R192H polymorphism generated a protein with defect in transcriptional repressor activities on its target genes, which may lead to β-cell dysfunction associated with MODY and early onset-age of T2D as reported in our previous study.
|
22521316 |
2013 |
rs114202595
|
|
|
0.850 |
GeneticVariation |
BEFREE |
NeuroD1 A45T and PAX4 R121W polymorphisms are associated with plasma glucose level of repaglinide monotherapy in Chinese patients with type 2 diabetes.
|
22296034 |
2012 |
rs114202595
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Arg121Trp mutation in PAX4 gene could be associated with beta-cell dysfunction in Japanese subjects with type 2 diabetes mellitus.
|
16423628 |
2006 |
rs114202595
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Recently, a missense mutation (Arg121Trp) of PAX4 has been implicated in early and insulin deficient type 2 diabetes in Japanese subjects.
|
15509590 |
2004 |
rs114202595
|
|
|
0.850 |
GeneticVariation |
BEFREE |
The R121W mutation in PAX4 is a predisposing factor for the development of type 2 diabetes in Okinawans.
|
12604352 |
2003 |
rs114202595
|
|
|
0.850 |
GeneticVariation |
BEFREE |
A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese.
|
11723072 |
2001 |