A polymorphism within the connective tissue growth factor (CTGF) gene has no effect on non-invasive markers of beta-cell area and risk of type 2 diabetes

作者：Pivovarova Olga^*; Fisher Eva; Dudziak Katarzyna; Ilkavets Iryna; Dooley Steven; Slominsky Petr; Limborska Svetlana; Weickert Martin O; Spranger Joachim; Fritsche Andreas; Boeing Heiner; Pfeiffer Andreas F H; Rudovich Natalia

来源：Disease Markers, 2011, 31(4): 241-246.

DOI：10.3233/DMA-2011-0823

• Genetic association
• connective tissue growth factor gene
• C-peptide
• blood glucose
• beta-cell mass
• type 2 diabetes mellitus

Chromosomal locus 6q23 is strongly linked to type 2 diabetes (T2DM) and related features including insulin secretion in various ethnic populations. Connective tissue growth factor (CTGF) gene is an interesting T2DM candidate gene in this chromosome region. CTGF is a key mediator of progressive pancreatic fibrosis up-regulated in type 2 diabetes. In contrast, CTGF inactivation in mice compromises islet cell proliferation during embryogenesis. The aim of our study was to investigate an impact of CTGF genetic variation on pancreatic beta-cell function and T2DM pathogenesis. We studied the effect of a common CTGF polymorphism rs9493150 on the risk of the T2DM development in three independent German cohorts. Specifically, the association between CTGF polymorphism and non-invasive markers of beta-cell area derived from oral glucose tolerance test was studied in subjects without diabetes. Neither in the Metabolic Syndrome Berlin Potsdam (MESYBEPO) study (n = 1026) (OR = 0.637, CI (0.387-1.050); p = 0.077) nor in the European Prospective Investigation into Cancer and Nutrition-Potsdam (EPIC-Potsdam) (n = 3049) cohort (RR = 0.77 CI (0.49-1.20), p = 0.249 for the recessive homozygote in general model), a significant association with increased diabetes risk was observed. The risk allele of rs9493150 had also no effect on markers of beta-cell area in the combined analysis of the MESYBEPO and Tubingen Family Study (n = 1826). In conclusion, the polymorphism rs9493150 in the 5'-untranslated region of the CTGF gene has no association with T2DM risk and surrogate markers of beta-cell area.

• 出版日期2011