A novel mutation in leptin gene is associated with severe obesity in Chinese individuals.
Obesity is a clinical syndrome which is driven by interactions between multiple genetic and environmental factors. Monogenic obesity is a rare type of obesity which is caused by a mutation in a single gene. Patients with monogenic obesity may develop early onset of obesity and severe metabolic abnormalities. In this study, we screened mutations of LEP in a total of 135 Chinese individuals including 35 obese patients whose BMI ≥ 32 kg/m(2) and 100 controls with BMI < 25 kg/m(2). Moreover, detailed information and clinical measurements of the participants were also collected. Finally, we identified a novel nonsynonymous mutation H118L in exon 3 of LEP in one patient with BMI 46.0 kg/m(2). This mutation was not identified in the controls. We speculated that the mutation H118L in LEP might be associated with severe obesity in Chinese subjects. However, the substantial mechanism should be further investigated.
Translational Medical Center, Shanghai Diabetes Institute, Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yishan Road, Shanghai 200233, China.
Yue
Y
Zhao
Translational Medical Center, Shanghai Diabetes Institute, Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yishan Road, Shanghai 200233, China.
Nanchao
N
Hong
Translational Medical Center, Shanghai Diabetes Institute, Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yishan Road, Shanghai 200233, China.
Xiao
X
Liu
Translational Medical Center, Shanghai Diabetes Institute, Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yishan Road, Shanghai 200233, China.
Beibei
B
Wu
Translational Medical Center, Shanghai Diabetes Institute, Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yishan Road, Shanghai 200233, China.
Shanshan
S
Tang
Department of General Surgery, Shanghai Ninth People's Hospital, Affiliated to Shanghai Jiao Tong University, School of Medicine, 639 Zhizaoju Road, Shanghai 200011, China.
Jianjun
J
Yang
Translational Medical Center, Shanghai Diabetes Institute, Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yishan Road, Shanghai 200233, China ; Shanghai Jiao Tong University Affiliated Sixth People's Hospital South Branch, 9588 Nanfeng Road, Shanghai 201400, China.
Cheng
C
Hu
Translational Medical Center, Shanghai Diabetes Institute, Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yishan Road, Shanghai 200233, China.
Weiping
W
Jia
D000328:Adult; D044466:Asian People; D015992:Body Mass Index; D002681:China; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D020738:Leptin / Q000235:genetics*; D008297:Male; D009154:Mutation; D009765:Obesity / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
D020738:Leptin