Page 85 - EJMO-9-1
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Eurasian Journal of Medicine and
            Oncology
                                                                                        T2D polymorphisms in Asians


            1. Introduction                                    ScienceDirect, and Semantic Scholar. In addition, relevant
                                                               journal articles were included without restrictions on
            The worldwide prevalence of type  2 diabetes (T2D)   publication year. Study selection was guided by keywords
            has been rising annually and is projected to continue   such as “Type  2 diabetes,” “SNPs OR single nucleotide
                                     1
            increasing in the coming years.  This may be attributed to   polymorphism OR polymorphism,” “Asian,” “specific
            inadequate preventive and therapeutic measures for T2D.   mechanisms (e.g., insulin sensitivity, insulin catabolism),”
            T2D is a multifactorial disorder influenced by both genetic   and “therapy OR management.” To ensure the reliability
            and environmental factors, with the latter often referred   of the selected studies as references, each was carefully
            to as epigenetics.  Extensive research on  epigenetics   assessed based on population, methodology, statistical
                           2
            has revealed  pathways through which external factors
            influence the development of T2D.                  rigor, and results, ensuring accountability and credibility.
              The reversible nature of epigenetics contrasts with the   3. The role of genetic SNPs in T2D
                                          3
            immutable characteristics of genetics.  Consequently, it is   pathophysiology
            widely recognized that genetic factors play a significant
            role in the onset and progression of various diseases,   Hyperglycemia is a key characteristic of T2D with a
            whereas epigenetic modifications offer potential avenues   complex medical condition. The observed phenomena
            for intervention. The rapid expansion of scientific research,   are believed to result from intricate interactions between
                                                                                2
            including the use of comprehensive genome-wide     epigenetic pathways.  It is widely acknowledged that
            association studies and other methodologies, has led to   impaired insulin sensitivity and secretion play a significant
            the identification of specific genetic variations, known as   role  in  the  pathophysiology  of  T2D.  These  impairments
            single nucleotide polymorphisms (SNPs), linked to T2D.   create a detrimental cycle in individuals with T2D, where
            These findings have contributed to a deeper understanding   elevated blood glucose levels contribute to the progression
            of the complex factors involved in the development of T2D.  of insulin resistance and the gradual deterioration of
                                                               pancreatic  β-cell function. The eventual onset of T2D
              SNPs play a crucial role in guiding specific treatment   results  from  the  progressive  decline  in  both  insulin
            decisions  in  precision  medicine,  highlighting  the   sensitivity and secretion. Given the association between
            importance of considering genetic diversity across a wide   SNPs and T2D, it is now recognized that T2D is influenced
            range of ethnicities. Notably, individuals carrying SNPs   by multiple factors, including insulin metabolism,
            in potassium inwardly rectifying channel subfamily J   regulators of peripheral insulin sensitivity, and circadian
            member 11 (KCNJ11) rs5219 T allele have demonstrated   rhythms (Table 1).
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            favorable responses to sulfonylurea drugs.  These findings
            provide valuable insights that should be integrated into   Genetic screening for SNP detection offers the
            the development of medications, treatment strategies, and   potential to mitigate T2D risk before its manifestation,
            health policies.                                   as epigenetic changes, unlike genetic alterations such as
                                                               SNPs, are reversible. Both genetic and epigenetic factors
              SNPs not only influence drug selection but also
            correlate  with  the  future  risk  of  T2D.  For  instance,  the   are influenced by proteins, but epigenetic modifications,
            melatonin receptor 1B (MTNR1B) rs10830963 G allele is   such as DNA methylation, can revert to normal conditions
                                                    5
            associated with a 1.11-fold increased risk of T2D.  Given   under certain circumstances. This reversibility underscores
            the  genetic  variability  across  different ethnic groups,   the importance of epigenetic approaches, such as lifestyle
            risk assessment and management of T2D cannot follow   modifications, in the prevention and management of T2D.
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                               6
            a universal approach.  Analyzing  these SNPs allows   These include practices such as yoga training,  maintaining
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                                                                          3
            for the identification of critical risk factors for T2D,   a healthy diet,  and regular exercise  have shown potential
            facilitates predictions of future incidence, and supports the   in modifying and reducing the risk of developing T2D.
            development of tailored preventive strategies. This review   The SNPs analyzed in this study were obtained from
            examines SNPs related to insulin regulation in human   original research articles and meta-analyses. The selection
            populations of Asian descent, emphasizing their role in   of these genetic markers was based on their known roles in
            risk assessment and drug response to support precision   T2D, particularly as demonstrated in meta-analyses  and
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            medicine tailored to genetic profiles.             whole-genome sequencing studies  that comprehensively
                                                               investigate the entire genome rather than focusing solely
            2. Search strategy and selection criteria          on specific genes of interest.  The P-values were derived
                                                                                      10
            This narrative review is based on references obtained   from statistical analyses comparing individuals with T2D
            from PubMed, Springer Nature, Wiley Online Library,   carrying the SNPs to non-diabetic individuals, based on



            Volume 9 Issue 1 (2025)                         77                              doi: 10.36922/ejmo.7549
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