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Title: The search for mutations and polymorphisms in the genes formonogenic diabetes among patients with a clinical diagnosis of type 2and type 1 diabetes mellitus


Maturity-onset diabetes of the young (MODY) is the most commonmonogenic form of diabetes. It is characterized by an autosomaldominant pattern of inheritance, early age of diagnosis and theoccurrence of several subsequent generations. The most commonsubtype of MODY diabetes is caused by a mutation in the HNF-1Agene and characterized by high sensitivity to sulfonylureas.Unfortunately, most patients with MODY diabetes are misdiagnosedas having type 1 or type 2 diabetes mellitus, that is why their treatmentis non-optimal. The main aim of this study was to create and test newclinical criteria for pre-selecting patients with type 1 and type 2diabetes mellitus for further HNF-1A MODY molecular testing. Thestudy confirmed that these criteria can be helpful in identification ofpatients with monogenic diabetes. The second goal of the analysis wasto check the importance of polymorphisms in the rs7957197 region ofHNF-1A gene and the rs1800691 region of HNF-4A gene for thedevelopment of polygenic diabetes. For the purpose of the study, themedical records of 813 patients clinically diagnosed as type 2 diabetesmellitus and 271 patients classified as type 1 diabetes mellitus wereanalyzed. In the group of patients with type 2 diabetes it was foundthat the risk allele of HNF-1A gene may effect the age at diagnosis butonly in men and the development of neuropatic complications.

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Level of degree:

2 - studia doktoranckie

Degree discipline:

endokrynologia ; genetyka

Degree grantor:

Wydział Lekarski


Klupa, Tomasz

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tylko w bibliotece

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Last modified:

Mar 15, 2023

In our library since:

Mar 26, 2015

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Edition name Date
ZB-122321 Mar 15, 2023


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