The International Journal of Romanian Society of Endocrinology / Registered in 1938

in ISI Thomson Master Journal List

July - September 2017, Volume 13, Issue 3
Case Report

Zhou TC, Yang Y, Zhang L, Liu YY, Lai X, Li Y, Li X, Xiong YX, Yang YL, Irwin DM

Novel Genetic Findings in a Chinese Family with Early-Onset Female-Related Type 2 Diabetes

Acta Endo (Buc) 2017, 13 (3): 364-369
doi: 10.4183/aeb.2017.364

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, LAMP5, 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.

Keywords: type 2 diabetes family, chromosome 20p11.2-12, linkage analysis

Correspondence: Ying Yang MD, PhD, 176 Youth Road, Kunming, Yunnan Province, Kunming, 650021, China, E-mail: