数据表1：中国人群HNF1A-MODY空腹C肽与血脂的基因型-表型相关性——单中心系列与多中心横断面分析

数据集获取（Figshare）

• 源站标题：Data Sheet 1_Genotype-phenotype correlations of fasting C-peptide and lipids in HNF1A-MODY: a single-center series and multi-center cross-sectional analysis in Chinese population.docx
• DOI：10.3389/fendo.2026.1735596.s001
• 发布日期：2026-02-12
• 文件数：1 个
• 文件总体积：841.62 KB
• 源站页面：https://frontiersin.figshare.com/articles/dataset/Data_Sheet_1_Genotype-phenotype_correlations_of_fasting_C-peptide_and_lipids_in_HNF1A-MODY_a_single-center_series_and_multi-center_cross-sectional_analysis_in_Chinese_population_docx/31322044

命令行下载

curl -L -o "Data Sheet 1_Genotype-phenotype correlations of fasting C-peptide and lipids in HNF1A-MODY: a single-center series and multi-center cross-sectional an.docx" "https://ndownloader.figshare.com/files/61827295"

文件清单

• Data Sheet 1_Genotype-phenotype correlations of fasting C-peptide and lipids in HNF1A-MODY: a single-center series and multi-center cross-sectional an.docx（841.62 KB）

文件总体积 841.62 KB（源站 API 实测）。

数据加载示例（图像类）

from PIL import Image
import glob, os

files = (glob.glob(os.path.join(path, "**", "*.png"), recursive=True)
       + glob.glob(os.path.join(path, "**", "*.jpg"), recursive=True)
       + glob.glob(os.path.join(path, "**", "*.tif"), recursive=True))
print("图像文件数:", len(files))
img = Image.open(files[0]); print("尺寸/模式:", img.size, img.mode)

# torchvision Dataset 方式:
# from torchvision import datasets
# ds = datasets.ImageFolder(path)  # 要求 子目录=类别

目录组织与标注格式以源站说明和下载后实际文件为准。

数据说明

BackgroundHNF1A-MODY is one of the most prevalent subtypes of maturity-onset diabetes of the young (MODY). Individuals with HNF1A-MODY display considerable clinical heterogeneity, potentially attributable to specific mutation sites. However, in the Chinese population, the relationship between distinct mutation sites and clinical manifestations remains to be investigated.
MethodsIn the initial analysis, 23 HNF1A-MODY patients diagnosed at the Department of Endocrinology, Qilu Hospital were included. These patients were followed up regularly to monitor glycemic control status and the progression of complications. In the subsequent analysis, baseline information of 113 Chinese HNF1A-MODY retrieved from public databases were further enrolled. Analysis of covariance was conducted to investigate the genotype-phenotype associations.
ResultsThis study included a total of 136 patients. Among the 23 from Qilu Hospital, 22 distinct HNF1A gene variants were identified, including 8 novel ones. After excluding cases classified as “variant of uncertain significance”, the analysis showed that the median age of onset was earliest in patients with DNA-binding domain mutations (15.70 years), compared to the dimerization or transactivation domain mutations (p = 0.044). Fasting C-peptide levels were markedly lower in the dimerization domain and DNA-binding domain group (p = 0.005). Patients with DNA-binding domain mutations demonstrated lower low-density lipoprotein cholesterol (p = 0.049) and total cholesterol (p = 0.016) levels, but higher high-density lipoprotein cholesterol (p = 0.036) levels. Analysis of covariance indicated that mutations in the dimerization domain (mean difference = -0.757, p = 0.001) and DNA-binding domain (mean difference = -0.331, p = 0.041) were independently associated with lower fasting C-peptide, and DNA-binding domain mutations were also associated with low-density lipoprotein cholesterol (mean difference = -0.554, p = 0.015) and higher high-density lipoprotein cholesterol (mean difference = 0.224, p = 0.015) levels, whereas the other domain mutations showed no statistically significant associations.
ConclusionThis study revealed the correlation betwe

许可

CC BY 4.0

引用

学术使用请引用 DOI 10.3389/fendo.2026.1735596.s001（source: https://frontiersin.figshare.com/articles/dataset/Data_Sheet_1_Genotype-phenotype_correlations_of_fasting_C-peptide_and_lipids_in_HNF1A-MODY_a_single-center_series_and_multi-center_cross-sectional_analysis_in_Chinese_population_docx/31322044）。