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
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