**5. Conclusions**

MetS and IR are central risk factors for the development of dyslipidemia, T2D, and CVD as well as complex metabolic traits. Many of the genetic variations implicated in the development of the MetS and IR are associated with glucose and lipid metabolism, respectively. Significant progress has been made in the identification of common and rare genetic variations associated with the MetS and IR in different populations, driven by the advent of GWAS and more recently, genome and exome sequencing approaches.

Despite many scientific efforts in identifying many genetic loci associated with the MetS and IR, their exact molecular pathogenesis remains unclear. Further studies are needed to identify functional links between the genetic variants and the phenotypes and subsequently to uncover the underlying molecular mechanisms of both metabolic disorders.

Clinical validation of the variants identified by several genetic analysis approaches is challenging for reasons resulting from implications by an individual's lifestyle and environmental factors as well as by genetic factors. In this aspect, studies including larger and more homogeneous populations are needed to identify genetic variants that underlie the association of the various traits of MetS and/or IR. However, results obtained from these studies should be replicated in different populations with a sufficient sample size to avoid false-positive associations and to reduce systematic biases and technical errors.

Approaches such as CRISPR, 3C, and eQTL are being used to identify structural and functional associations between genetic loci discovered by GWAS or exome sequencing and regional or distal genes. Among them, CRISPR as an *in vitro* screening platform may be used effectively to pinpoint causal genes at loci associated with MetS and IR in the near future. Currently, MetS and IR have been becoming a health and financial burden worldwide. The exact identification of validated variants that affect the MetS and IR might provide new preventive and treating strategies for the 2 metabolic disorders and related diseases.

**221**

**Author details**

Republic of Korea

Sanghoo Lee\*, Jinwoo Ahn, Jimyeong Park, Hyeonkyun Na, Youngkee Lee,

Companion Biomarker Center, SCL Healthcare Co., Ltd., Gyeonggi-do, 16954,

© 2020 The Author(s). Licensee IntechOpen. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/ by/3.0), which permits unrestricted use, distribution, and reproduction in any medium,

Yejin Kim, Gayeon Hong and Kyoung-Ryul Lee

provided the original work is properly cited.

\*Address all correspondence to: sprout30@scllab.co.kr

*Genetic Diversity of Insulin Resistance and Metabolic Syndrome*

*DOI: http://dx.doi.org/10.5772/intechopen.93906*

*Genetic Diversity of Insulin Resistance and Metabolic Syndrome DOI: http://dx.doi.org/10.5772/intechopen.93906*

*Genetic Variation*

**5. Conclusions**

sequencing approaches.

both metabolic disorders.

reduce systematic biases and technical errors.

these 3 genes in adipose tissue.

and *PDGFC*), and expression levels of these 5 genes in human subcutaneous adipose tissue were found to be associated with increased risk of IR. Interestingly, it was first revealed in this study that the *FST, PEPD*, and *PDGFC* are involved in the functions of adipose in IR. Despite these findings, little is known about other functions of these 3 genes in adipose tissue, which may include novel molecular mechanisms for cardiometabolic disease. In this regard, studies will be needed to uncover new functions of

MetS and IR are central risk factors for the development of dyslipidemia, T2D, and CVD as well as complex metabolic traits. Many of the genetic variations implicated in the development of the MetS and IR are associated with glucose and lipid metabolism, respectively. Significant progress has been made in the identification of common and rare genetic variations associated with the MetS and IR in different populations, driven by the advent of GWAS and more recently, genome and exome

Despite many scientific efforts in identifying many genetic loci associated with

the MetS and IR, their exact molecular pathogenesis remains unclear. Further studies are needed to identify functional links between the genetic variants and the phenotypes and subsequently to uncover the underlying molecular mechanisms of

Clinical validation of the variants identified by several genetic analysis approaches is challenging for reasons resulting from implications by an individual's lifestyle and environmental factors as well as by genetic factors. In this aspect, studies including larger and more homogeneous populations are needed to identify genetic variants that underlie the association of the various traits of MetS and/or IR. However, results obtained from these studies should be replicated in different populations with a sufficient sample size to avoid false-positive associations and to

Approaches such as CRISPR, 3C, and eQTL are being used to identify structural and functional associations between genetic loci discovered by GWAS or exome sequencing and regional or distal genes. Among them, CRISPR as an *in vitro* screening platform may be used effectively to pinpoint causal genes at loci associated with MetS and IR in the near future. Currently, MetS and IR have been becoming a health and financial burden worldwide. The exact identification of validated variants that affect the MetS and IR might provide new preventive and

treating strategies for the 2 metabolic disorders and related diseases.

**220**
