Genetic strategies to understand physiological pathways regulating body weight

被引：5

作者：

Farooqi, Sadaf ^{[1
]}

机构：

[1] Univ Cambridge, Addenbrookes Hosp, Wellcome Trust MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 2QQ, England

来源：

MAMMALIAN GENOME | 2014年 / 25卷 / 9-10期

关键词：

CONGENITAL LEPTIN DEFICIENCY; GENOME-WIDE ASSOCIATION; BARDET-BIEDL-SYNDROME; EARLY-ONSET OBESITY; FTO GENE; CHILDHOOD OBESITY; MISSENSE MUTATION; COMMON VARIANT; MASS INDEX; FAT MASS;

D O I：

10.1007/s00335-014-9541-z

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Body weight is a highly heritable trait across species. In humans, genetic variation plays a major role in determining the inter-individual differences in susceptibility or resistance to environmental factors which influence energy intake and expenditure. In this review, I discuss how genetic studies have contributed to our understanding of the central pathways that govern energy homeostasis. The study of individuals harboring highly penetrant genetic variants that disrupt the leptin-melanocortin pathway has informed our understanding of the physiological pathways involved in mammalian energy homeostasis.

引用

页码：377 / 383

页数：7

共 57 条

[51] Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity [J].

Vaisse, C ;

Clement, K ;

Durand, E ;

Hercberg, S ;

Guy-Grand, B ;

Froguel, P .

JOURNAL OF CLINICAL INVESTIGATION, 2000, 106 (02) :253-262

[52] A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 [J].

Walters, R. G. ;

Jacquemont, S. ;

Valsesia, A. ;

de Smith, A. J. ;

Martinet, D. ;

Andersson, J. ;

Falchi, M. ;

Chen, F. ;

Andrieux, J. ;

Lobbens, S. ;

Delobel, B. ;

Stutzmann, F. ;

Moustafa, J. S. El-Sayed ;

Chevre, J. -C. ;

Lecoeur, C. ;

Vatin, V. ;

Bouquillon, S. ;

Buxton, J. L. ;

Boute, O. ;

Holder-Espinasse, M. ;

Cuisset, J. -M. ;

Lemaitre, M. -P. ;

Ambresin, A. -E. ;

Brioschi, A. ;

Gaillard, M. ;

Giusti, V. ;

Fellmann, F. ;

Ferrarini, A. ;

Hadjikhani, N. ;

Campion, D. ;

Guilmatre, A. ;

Goldenberg, A. ;

Calmels, N. ;

Mandel, J. -L. ;

Le Caignec, C. ;

David, A. ;

Isidor, B. ;

Cordier, M. -P. ;

Dupuis-Girod, S. ;

Labalme, A. ;

Sanlaville, D. ;

Beri-Dexheimer, M. ;

Jonveaux, P. ;

Leheup, B. ;

Ounap, K. ;

Bochukova, E. G. ;

Henning, E. ;

Keogh, J. ;

Ellis, R. J. ;

MacDermot, K. D. .

NATURE, 2010, 463 (7281) :671-U104

[53] Obesity associated genetic variation in FTO is associated with diminished satiety [J].

Wardle, Jane ;

Carnell, Susan ;

Haworth, Claire M. A. ;

Farooqi, I. Sadaf ;

O'Rahilly, Stephen ;

Plomin, Robert .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2008, 93 (09) :3640-3643

[54] Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity [J].

Wheeler, Eleanor ;

Huang, Ni ;

Bochukova, Elena G. ;

Keogh, Julia M. ;

Lindsay, Sarah ;

Garg, Sumedha ;

Henning, Elana ;

Blackburn, Hannah ;

Loos, Ruth J. F. ;

Wareham, Nick J. ;

O'Rahilly, Stephen ;

Hurles, Matthew E. ;

Barroso, Ines ;

Farooqi, I. Sadaf .

NATURE GENETICS, 2013, 45 (05) :513-U76

[55] A de novo mutation affecting human TrkB associated with severe obesity and developmental delay [J].

Yeo, GSH ;

Hung, CCC ;

Rochford, J ;

Keogh, J ;

Gray, J ;

Sivaramakrishnan, S ;

O'Rahilly, S ;

Farooqi, IS .

NATURE NEUROSCIENCE, 2004, 7 (11) :1187-1189

[56] A common variant in the FTO gene is associated with obesity in the Uyghur population [J].

Zhang, F. ;

Xu, L. ;

Jin, L. ;

Wang, X. -F. .

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2008, 31 (11) :1043-1043

[57] POSITIONAL CLONING OF THE MOUSE OBESE GENE AND ITS HUMAN HOMOLOG [J].

ZHANG, YY ;

PROENCA, R ;

MAFFEI, M ;

BARONE, M ;

LEOPOLD, L ;

FRIEDMAN, JM .

NATURE, 1994, 372 (6505) :425-432

← 1 2 3 4 5 6 →