Functional characterization of the type 2 diabetes associated variant rs3832490 in repin1
J Krüger, K Weidle, M Kern, B Enigk, M Prellberg, I Müller, D Schleinitz, J Breitfeld, A Tönjes, M Stumvoll, M Blüher, P Kovacs, N Klöting · Diabetologie und Stoffwechsel · 2013 · Heft 04
Bibliografische Angaben
Zusammenfassung
Background/Aim: Repin1 maps within a quantitative trait locus for total cholesterol, body weight, serum triglycerides and serum insulin in the rat. Sequencing of human repin1 revealed a 12bp deletion within the coding region (rs3832490). We investigated the functional consequences of this variant. Methods/Materials: 1) Population genetic studies: The deletion in repin1 was genotyped for subsequent association studies in two independent cohorts: the Leipzig cohort (N = 1830) and the Sorbs (N = 1046). In addition repin1 mRNA levels were determined in paired human samples of visceral and subcutaneous adipose tissue…
