Genetics and epigenetics in the obesity phenotyping scenario

被引：26

作者：

Trang, Khanh ^{[1
,2
]}

Grant, Struan F. A. ^{[1
,2
,3
,4
,5
]}

机构：

[1] Childrens Hosp Philadelphia, Ctr Spatial & Funct Genom, Philadelphia, PA 19104 USA

[2] Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA

[3] Childrens Hosp Philadelphia, Div Diabet & Endocrinol, Philadelphia, PA 19104 USA

[4] Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA

[5] Univ Penn, Dept Genet, Philadelphia, PA 19104 USA

来源：

REVIEWS IN ENDOCRINE & METABOLIC DISORDERS | 2023年 / 24卷 / 05期

关键词：

Genetics; Genomics; Obesity; Monogenic; Polygenic; GWAS; Epigenetics; BODY-MASS INDEX; GENOME-WIDE ASSOCIATION; BARDET-BIEDL-SYNDROME; EARLY-ONSET OBESITY; OF-FUNCTION MUTATIONS; TO-HEIGHT RATIO; MELANOCORTIN-4; RECEPTOR; MISSENSE MUTATION; WAIST CIRCUMFERENCE; LEPTIN DEFICIENCY;

D O I：

10.1007/s11154-023-09804-6

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Obesity is a common complex trait that elevates the risk for various diseases, including type 2 diabetes and cardiovascular disease. A combination of environmental and genetic factors influences the pathogenesis of obesity. Advances in genomic technologies have driven the identification of multiple genetic loci associated with this disease, ranging from studying severe onset cases to investigating common multifactorial polygenic forms. Additionally, findings from epigenetic analyses of modifications to the genome that do not involve changes to the underlying DNA sequence have emerged as key signatures in the development of obesity. Such modifications can mediate the effects of environmental factors, including diet and lifestyle, on gene expression and clinical presentation. This review outlines what is known about the genetic and epigenetic contributors to obesity susceptibility, along with the albeit limited therapeutic options currently available. Furthermore, we delineate the potential mechanisms of actions through which epigenetic changes can mediate environmental influences and the related opportunities they present for future interventions in the management of obesity.

引用

页码：775 / 793

页数：19

共 197 条

[1]

Ajslev Teresa A., 2012, Frontiers in Genetics, V3, P125, DOI 10.3389/fgene.2012.00125

[2] Genome-wide association study identifies 112 new loci for body mass index in the Japanese population [J].

Akiyama, Masato ;

Okada, Yukinori ;

Kanai, Masahiro ;

Takahashi, Atsushi ;

Momozawa, Yukihide ;

Ikeda, Masashi ;

Iwata, Nakao ;

Ikegawa, Shiro ;

Hirata, Makoto ;

Matsuda, Koichi ;

Iwasaki, Motoki ;

Yamaji, Taiki ;

Sawada, Norie ;

Hachiya, Tsuyoshi ;

Tanno, Kozo ;

Shimizu, Atsushi ;

Hozawa, Atsushi ;

Minegishi, Naoko ;

Tsugane, Shoichiro ;

Yamamoto, Masayuki ;

Kubo, Michiaki ;

Kamatani, Yoichiro .

NATURE GENETICS, 2017, 49 (10) :1458-+

[3]

Allison DB, 1996, INT J OBESITY, V20, P501

[4] Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism [J].

Alsters, Suzanne I. M. ;

Goldstone, Anthony P. ;

Buxton, Jessica L. ;

Zekavati, Anna ;

Sosinsky, Alona ;

Yiorkas, Andrianos M. ;

Holder, Susan ;

Klaber, Robert E. ;

Bridges, Nicola ;

van Haelst, Mieke M. ;

le Roux, Carel W. ;

Walley, Andrew J. ;

Walters, Robin G. ;

Mueller, Michael ;

Blakemore, Alexandra I. F. .

PLOS ONE, 2015, 10 (06)

[5] A global reference for human genetic variation [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Wang, Jun ;

Wilson, Richard K. ;

Boerwinkle, Eric ;

Doddapaneni, Harsha ;

Han, Yi ;

Korchina, Viktoriya ;

Kovar, Christie ;

Lee, Sandra ;

Muzny, Donna ;

Reid, Jeffrey G. ;

Zhu, Yiming ;

Chang, Yuqi ;

Feng, Qiang ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Lan, Tianming ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Liu, Shengmao ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Tang, Meifang ;

Wang, Bo .

NATURE, 2015, 526 (7571) :68-+

[6] GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI [J].

Alves, Alexessander Couto ;

De Silva, N. Maneka G. ;

Karhunen, Ville ;

Sovio, Ulla ;

Das, Shikta ;

Taal, H. Rob ;

Warrington, Nicole M. ;

Lewin, Alexandra M. ;

Kaakinen, Marika ;

Cousminer, Diana L. ;

Thiering, Elisabeth ;

Timpson, Nicholas J. ;

Bond, Tom A. ;

Lowry, Estelle ;

Brown, Christopher D. ;

Estivill, Xavier ;

Lindi, Virpi ;

Bradfield, Jonathan P. ;

Geller, Frank ;

Speed, Doug ;

Coin, Lachlan J. M. ;

Loh, Marie ;

Barton, Sheila J. ;

Beilin, Lawrence J. ;

Bisgaard, Hans ;

Bonnelykke, Klaus ;

Alili, Rohia ;

Hatoum, Ida J. ;

Schramm, Katharina ;

Cartwright, Rufus ;

Charles, Marie-Aline ;

Salerno, Vincenzo ;

Clement, Karine ;

Claringbould, Annique A. J. ;

van Duijn, Cornelia M. ;

Moltchanova, Elena ;

Eriksson, Johan G. ;

Elks, Cathy ;

Feenstra, Bjarke ;

Flexeder, Claudia ;

Franks, Stephen ;

Frayling, Timothy M. ;

Freathy, Rachel M. ;

Elliott, Paul ;

Widen, Elisabeth ;

Hakonarson, Hakon ;

Hattersley, Andrew T. ;

Rodriguez, Alina ;

Banterle, Marco ;

Heinrich, Joachim .

SCIENCE ADVANCES, 2019, 5 (09)

[7]

Amir H, 2009, J MATERN-FETAL NEO M, V22, P759, DOI [10.3109/14767050902929396, 10.1080/14767050902929396]

[8] The derived allele of a novel intergenic variant at chromosome 11 associates with lower body mass index and a favorable metabolic phenotype in Greenlanders [J].

Andersen, Mette K. ;

Jorsboe, Emil ;

Skotte, Line ;

Hanghoj, Kristian ;

Sandholt, Camilla H. ;

Moltke, Ida ;

Grarup, Niels ;

Kern, Timo ;

Mahendran, Yuvaraj ;

Soborg, Bolette ;

Bjerregaard, Peter ;

Larsen, Christina V. L. ;

Dahl-Petersen, Inger K. ;

Tiwari, Hemant K. ;

Feenstra, Bjarke ;

Koch, Anders ;

Wiener, Howard W. ;

Hopkins, Scarlett E. ;

Pedersen, Oluf ;

Melbye, Mads ;

Boyer, Bert B. ;

Jorgensen, Marit E. ;

Albrechtsen, Anders ;

Hansen, Torben .

PLOS GENETICS, 2020, 16 (01)

[9]

[Anonymous], 2014, FDA APPROVAL BIOL LI

[10] Waist-to-height ratio is a better screening tool than waist circumference and BMI for adult cardiometabolic risk factors: systematic review and meta-analysis [J].

Ashwell, M. ;

Gunn, P. ;

Gibson, S. .

OBESITY REVIEWS, 2012, 13 (03) :275-286

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