NOVEL GENETIC FINDINGS IN A CHINESE FAMILY WITH EARLY-ONSET FEMALE RELATED TYPE 2 DIABETES

被引：1
|
作者：
Zhou, T. C. [1 ,2 ]
Yang, Y. [1 ,2 ]
Zhang, L. [1 ]
Liu, Y. Y. [1 ]
Lai, X. [1 ]
Li, Y. [1 ]
Li, X. [1 ]
Xiong, Y. X. [1 ]
Yang, L. [3 ]
Irwin, D. M. [2 ,4 ]
机构：
[1] Chinese Acad Sci, Dept Endocrinol, Cent Lab, Peoples Hosp Yunnan Prov 2, Kunming, Yunnan, Peoples R China
[2] Chinese Acad Sci, Kunming Inst Zool, State Key Lab Genet Resources & Evolut, Kunming, Yunnan, Peoples R China
[3] Kunming Medicial Unvers, Affiliated Hosptial 2, Nucl Med, Kunming, Yunnan, Peoples R China
[4] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada
来源：
ACTA ENDOCRINOLOGICA-BUCHAREST | 2017年 / 13卷 / 03期
基金：
中国国家自然科学基金;
关键词：
type 2 diabetes family; chromosome; 20p11.2-12; linkage analysis; GENOME-WIDE SEARCH; SUSCEPTIBILITY GENES; INSULIN-SECRETION; MEXICAN-AMERICANS; PIMA-INDIANS; MELLITUS; LINKAGE; SCAN; LOCI; RESISTANCE;
D O I：
10.4183/aeb.2017.364
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
No inheritance of early-onset female-related type 2 diabetes was reported within Chinese families In this study, we aim to describe the inheritance pattern of type 2 diabetes in a 3-generation family and identify the gene responsible for type 2 diabetes. Genome-wide multipoint parametric linkage analysis revealed a maximum multipoint logarithm of odds (lod) score of 2.1 for a locus being associated with type 2 diabetes in this family on chromosome 20p11.2-12 between 23.5-30.8cM. Type 2 diabetes may be transmitted as an autosomal dominant trait with a high female-related penetrance in this family. Here we describe the first genetic locus for type 2 diabetes at chromosome 20p11.2-12. This region contains 8 known or predicted genes (PLCB1, PLCB4, LAMPS, PAK7, ANKEF1, SNAP25, SLX4IP, and JAG1). Gene SNAP25 which linked to energy or glucose homeostasis associated phenotypes may play a role in the development of type 2 diabetes in this family.
引用
收藏
页码：364 / 369
页数：6
相关论文
共 50 条
  • [41] Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits
    Aksit, Melis A.
    Pace, Rhonda G.
    Vecchio-Pagan, Briana
    Ling, Hua
    Rommens, Johanna M.
    Boelle, Pierre-Yves
    Guillot, Loic
    Raraigh, Karen S.
    Pugh, Elizabeth
    Zhang, Peng
    Strug, Lisa J.
    Drumm, Mitch L.
    Knowles, Michael R.
    Cutting, Garry R.
    Corvol, Harriet
    Blackman, Scott M.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2020, 105 (05)
  • [42] Birthweight and early-onset type 2 diabetes in American Indians: differential effects in adolescents and young adults and additive effects of genotype, BMI and maternal diabetes
    Olaiya, Muideen T.
    Wedekind, Lauren E.
    Hanson, Robert L.
    Sinha, Madhumita
    Kobes, Sayuko
    Nelson, Robert G.
    Baier, Leslie J.
    Knowler, William C.
    DIABETOLOGIA, 2019, 62 (09) : 1628 - 1637
  • [43] Ten-year clinical characteristics of patients with early-onset type 2 diabetes: A single-center experience in China
    Yu, Ruiqi
    Liu, Xiaoyu
    Li, Ruochen
    Xiao, Xinhua
    JOURNAL OF DIABETES, 2024, 16 (01)
  • [44] Genetic Nurture Effects on Type 2 Diabetes Among Chinese Han Adults: A Family-Based Design
    Li, Xiaoyi
    Zhou, Zechen
    Ma, Yujia
    Ding, Kexin
    Xiao, Han
    Wu, Tao
    Chen, Dafang
    Wu, Yiqun
    BIOMEDICINES, 2025, 13 (01)
  • [45] Risk of non-fatal cardiovascular diseases in early-onset versus late-onset type 2 diabetes in China: a cross-sectional study
    Huo, Xiaoxu
    Gao, Leili
    Guo, Lixin
    Xu, Wen
    Wang, Wenbo
    Zhi, Xinyue
    Li, Ling
    Ren, Yanfeng
    Qi, Xiuying
    Sun, Zhong
    Li, Weidong
    Ji, Qiuhe
    Ran, Xingwu
    Su, Benli
    Hao, Chuanming
    Lu, Juming
    Guo, Xiaohui
    Zhuo, Hanjing
    Zhang, Danyi
    Pan, Changyu
    Weng, Jianping
    Hu, Dayi
    Yang, Xilin
    Ji, Linong
    LANCET DIABETES & ENDOCRINOLOGY, 2016, 4 (02) : 115 - 124
  • [46] Quality of life in intensively treated youths with early-onset type 1 diabetes: a population-based survey
    Stahl-Pehe, Anna
    Strassburger, Klaus
    Castillo, Katty
    Baechle, Christina
    Holl, Reinhard W.
    Lange, Karin
    Rosenbauer, Joachim
    PEDIATRIC DIABETES, 2014, 15 (06) : 436 - 443
  • [47] Is disordered eating behavior more prevalent in adolescents with early-onset type 1 diabetes than in their representative peers?
    Baechle, Christina
    Castillo, Katty
    Strassburger, Klaus
    Stahl-Pehe, Anna
    Meissner, Thomas
    Holl, Reinhard W.
    Giani, Guido
    Rosenbauer, Joachim
    INTERNATIONAL JOURNAL OF EATING DISORDERS, 2014, 47 (04) : 342 - 352
  • [48] Low Total Testosterone Levels in Men with Newly Diagnosed Early-Onset Type 2 Diabetes: A Cross-Sectional Study in China
    Hu, Yun
    Yuan, Lu
    Bao, Yu-Jie
    Wang, Ying
    Cai, Ting-Ting
    Ma, Jian-Hua
    Ding, Bo
    JOURNAL OF DIABETES RESEARCH, 2023, 2023
  • [49] Association of genetic polymorphisms of SelS with Type 2 diabetes in a Chinese population
    Zhao, Long
    Zheng, Ying-Ying
    Chen, You
    Ma, Yi-Tong
    Yang, Yi-Ning
    Li, Xiao-Mei
    Ma, Xiang
    Xie, Xiang
    BIOSCIENCE REPORTS, 2018, 38
  • [50] Sexual Dimorphism of a Genetic Risk Score for Obesity and Related Traits among Chinese Patients with Type 2 Diabetes
    Kong, Xiaomu
    Xing, Xiaoyan
    Zhang, Xuelian
    Hong, Jing
    Yang, Wenying
    OBESITY FACTS, 2019, 12 (03) : 328 - 343
12345