Cystatin C is not a good candidate biomarker for HNF1A-MODY.

Journal article

Cystatin C is a marker of glomerular filtration rate (GFR). Its level is influenced, among the others, by CRP whose concentration is decreased in HNF1A-MODY. We hypothesized that cystatin C level might be altered in HNF1A-MODY. We aimed to evaluate cystatin C in HNF1A-MODY both as a diagnostic marker and as a method of assessing GFR. We initially examined 51 HNF1A-MODY patients, 56 subjects with type 1 diabetes (T1DM), 39 with type 2 diabetes (T2DM) and 43 non-diabetic individuals (ND) from Poland. Subjects from two UK centres were used as replication panels: including 215 HNF1A-MODY, 203 T2DM, 39 HNF4A-MODY, 170 GCK-MODY, 17 HNF1B-MODY and 58 T1DM patients. The data were analysed with additive models, adjusting for gender, age, BMI and estimated GFR (creatinine). In the Polish subjects, adjusted cystatin C level in HNF1A-MODY was lower compared with T1DM, T2DM and ND (p < 0.05). Additionally, cystatin C-based GFR was higher than that calculated from creatinine level (p < 0.0001) in HNF1A-MODY, while the two GFR estimates were similar or cystatin C-based lower in the other groups. In the UK subjects, there were no differences in cystatin C between HNF1A-MODY and the other diabetic subgroups, except HNF1B-MODY. In UK HNF1A-MODY, cystatin C-based GFR estimate was higher than the creatinine-based one (p < 0.0001). Concluding, we could not confirm our hypothesis (supported by the Polish results) that cystatin C level is altered by HNF1A mutations; thus, it cannot be used as a biomarker for HNF1A-MODY. In HNF1A-MODY, the cystatin C-based GFR estimate is higher than the creatinine-based one.

Authors: Nowak, N; Szopa, M; Thanabalasingham, G; McDonald, T; Colclough, K

• Publication status: Published
• Journal: Acta diabetologica More from this journal
• Volume: 50
• Issue: 5
• Pages: 815-820
• Publication date: 2013-10-01
• DOI: 10.1007/s00592-012-0378-1
• EISSN: 1432-5233
• ISSN: 0940-5429
• Language: English
• Keywords: Hepatocyte Nuclear Factor 1-alpha; Diabetes Mellitus, Type 2; Biological Markers; Poland; Adult; Male; Case-Control Studies; Diabetes Mellitus, Type 1; Reproducibility of Results; Cystatin C; Glomerular Filtration Rate; Middle Aged; Creatinine; Humans; Female