Clinical trial NCT06277466: Effect of Mutations in T2DM Susceptibility Genes on the Expression of Susceptibility Genes in Patients With T2DM and Controls
Official title: Department of Pharmacy, the Affiliated Hospital of Xuzhou Medical University
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Type 2 Diabetes Mellitus
Gene Polymorphisms
Genetic Mutations
Susceptibility, Genetic
Keywords: T2DM
gene polymorphism
susceptibility gene
genetic mutations
Lead sponsor: The Affiliated Hospital of Xuzhou Medical University
Sponsor class: OTHER
First posted: 2024-02-26
Enrollment: 300
Sex: ALL
Minimum age (years): 25
Maximum age (years): 70
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: PREVENTION

Brief summary: In this study, investigators wanted to determine the effect of T2DM susceptibility gene mutations on self-expression.

Participants (T2DM patients and controls) were recruited to identify genotypes and detect the levels of T2DM susceptibility genes expression in the fresh peripheral plasma. The normal pancreatic tissues or adjacent tissues of pancreatic cancer were also collected to identify the expression differences of T2DM susceptibility genes under different genotypes.

Detailed description: The primary objective of this study was to investigate the changes of the expression of T2DM susceptible genes (NOS1AP, KCNQ1, TCF7L2, WSF1, GLP-1R, etc.) in participants (newly diagnosed T2DM patients and controls) after gene mutation.

Secondly, the expression differences of T2DM susceptible genes in T2DM patients with different genotypes were compared, and the relationship between the expression differences and clinicopathological characteristics of T2DM patients was analyzed.

Participants (newly diagnosed T2DM patients and healthy subjects) were screened from the department of endocrinology and health management center, whose fresh peripheral blood were collected. The normal pancreatic tissues or adjacent tissues of pancreatic cancer were collected in the department of general surgery. The DNA genome was extracted for genotyping, and then the expression levels of T2DM related susceptibility genes under different genotypes were detected by ELISA kits, PCR, WB,HE staining, IHC staining, ect.

The basic information of T2DM patients was collected, including demographic characteristics, physiological and biochemical data.Then investigators further compared the differences in the expression of susceptible genes between newly diagnosed T2DM patients and controls.

Eligibility criteria: Inclusion Criteria:

1. no drug therapy; 25 to 70 years old; Hemoglobin A1c (HbA1c) 7%-12%; BMI 20-35 kg/m2; Stable body weight (≤10% change within 3 months)（For newly diagnosed patients with T2DM）.
2. 25 to 60 years old; BMI 19-26 kg/m2; in good health, with no abnormalities of motor system, digestive system, respiratory system, urogenital system, blood system, circulatory system, nervous/mental system, endocrine system, etc（For healthy subjects）.
3. 20-80 years old; surgical resection of part or all of the pancreas; pancreatic lesions confirmed by enhanced CT or magnetic resonance (MR) examination or confirmed by intraoperative and postoperative pathology（For the patients in general surgical）.

Exclusion Criteria:

1. had taken antidiabetic drugs;
2. had a history of pancreatic surgery;
3. Complicated with severe organ lesions;
4. Long-term use of drugs that affect pancreatic function.

Primary outcomes:
measure: Detection of T2DM susceptibility gene expression in newly diagnosed T2DM patients
timeFrame: 1 month after fresh sample collection
measure: Detection of T2DM susceptibility gene expression in controls
timeFrame: 1 month after fresh sample collection
measure: Correlation between T2DM susceptibility gene expression and clinicopathological features
timeFrame: 6 months after obtaining the clinicopathological results
Secondary outcomes:
measure: Baseline BMI of newly diagnosed with T2DM patients with different genotypes
timeFrame: 1 month of completion for individual screening
measure: Baseline waist hip ratio (WHR) of newly diagnosed with T2DM patients with different genotypes
timeFrame: 1 month of completion for individual screening
measure: Baseline fasting plasma glucose (FPG) of newly diagnosed with T2DM patients with different genotypes
timeFrame: 1 month of completion for individual screening
measure: Baseline HbA1c of newly diagnosed with T2DM patients with different genotypes
timeFrame: 1 month of completion for individual screening
measure: Baseline TC of newly diagnosed with T2DM patients with different genotypes
timeFrame: 1 month of completion for individual screening
measure: Baseline TG of newly diagnosed with T2DM patients with different genotypes
timeFrame: 1 month of completion for individual screening
measure: Baseline HDL-C of newly diagnosed with T2DM patients with different genotypes
timeFrame: 1 month of completion for individual screening
measure: Baseline LDL-C of newly diagnosed with T2DM patients with different genotypes
timeFrame: 1 month of completion for individual screening
measure: Baseline BMI of controls with different genotypes
timeFrame: 1 month of completion for individual screening
measure: Baseline WHR of controls with different genotypes
timeFrame: 1 month of completion for individual screening
measure: Baseline FPG of controls with different genotypes
timeFrame: 1 month of completion for individual screening
measure: Baseline HbA1c of controls with different genotypes
timeFrame: 1 month of completion for individual screening
measure: Baseline TC of controls with different genotypes
timeFrame: 1 month of completion for individual screening
measure: Baseline TG of controls with different genotypes
timeFrame: 1 month of completion for individual screening
measure: Baseline HDL-C of controls with different genotypes
timeFrame: 1 month of completion for individual screening
measure: Baseline LDL-C of controls with different genotypes
timeFrame: 1 month of completion for individual screening
Other outcomes:
Locations:
city: Xuzhou
country: China
facility: China, Jiangsu, Department of Endocrinology
Study officials:
References: