Identification of appropriate biochemical parameters and cut points to detect Maturity Onset Diabetes of Young (MODY) in Asian Indians in a clinic setting

Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes which is detected by genetic testing. We looked at clinical and biochemcial variables that could help detect possible MODY among Asian Indians with youth-onset diabetes. From the diabetes electronic medical records of a diab...

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Vydáno v:	Scientific reports Ročník 13; číslo 1; s. 11408 - 9
Hlavní autoři:	Aarthy, Ramasamy, Aston-Mourney, Kathryn, Amutha, Anandakumar, Mikocka-Walus, Antonina, Anjana, Ranjit Mohan, Unnikrishnan, Ranjit, Jebarani, Saravanan, Venkatesan, Ulagamathesan, Gopi, Sundaramoorthy, Radha, Venkatesan, Mohan, Viswanathan
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	London Nature Publishing Group UK 14.07.2023 Nature Publishing Group Nature Portfolio
Témata:	692/163 692/308 692/700 Adolescent Body mass index C-Peptide Cholesterol Cholesterol, HDL - genetics Diabetes Diabetes mellitus (insulin dependent) Diabetes mellitus (non-insulin dependent) Diabetes Mellitus, Type 1 - diagnosis Diabetes Mellitus, Type 2 - diagnosis Diabetes Mellitus, Type 2 - genetics Electronic medical records Fasting Genetic screening Genetic testing Glycated Hemoglobin Hemoglobin High density lipoprotein Humanities and Social Sciences Humans India Minority & ethnic groups multidisciplinary Mutation Peptides Science Science (multidisciplinary) Triglycerides India
ISSN:	2045-2322, 2045-2322
On-line přístup:	Získat plný text
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Shrnutí:	Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes which is detected by genetic testing. We looked at clinical and biochemcial variables that could help detect possible MODY among Asian Indians with youth-onset diabetes. From the diabetes electronic medical records of a diabetes care centre in Chennai in southern India, demographic, anthropometric, and biochemical details of 34 genetically confirmed MODY participants were extracted. They were compared with patients with type 1 diabetes (T1D) (n = 1011) and type 2 diabetes (T2D) (n = 1605), diagnosed below 30 years of age. Clinical and biochemical variables including body mass index (BMI), glycated hemoglobin, HDL cholesterol, and C-peptide (fasting and stimulated) were analyzed to determine whether cut points could be derived to identify individuals who could be sent for genetic testing to diagnose or rule out MODY in this ethnic group. The age at diagnosis was higher for T2D (26.5 ± 4.0 years) compared to T1D (18.2 ± 6.1 years) and MODY (17.8 ± 6.0 years). Individuals with MODY had BMI, glycated hemoglobin, total cholesterol, triglycerides, HDL cholesterol, and C-peptide levels which were intermediate between T1D and T2D. The identified probable parameters and their cut points to identify cases for MODY genetic screening were BMI 21.2–22.7 kg/m 2 , glycated hemoglobin 7.2–10%, HDL cholesterol 43–45 mg/dl, fasting C -peptide, 1.2–2.1 ng/ml and stimulated C-peptide, 2.1–4.5 ng/ml. Asian Indians with MODY have clinical features that are intermediate between T1D and T2D and selected biochemical parameters, especially stimulated C peptide cut points were the most useful to diagnose MODY.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23
ISSN:	2045-2322 2045-2322
DOI:	10.1038/s41598-023-37766-x