Candidate gene association study of UCP3 variant rs1800849 with T2D in Mizo population of Northeast India
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ORIGINAL ARTICLE
Candidate gene association study of UCP3 variant rs1800849 with T2D in Mizo population of Northeast India Sarmeela Sharma 1 & Freda Lalrohlui 2 & Varun Sharma 1 & Indu Sharma 1 & Shruti Sharma 1 & Tasmeen Javed Parihar 1 & John Zohmingthanga 3 & Vinod Singh 1 & Swarkar Sharma 1 & Nachimuthu Senthil Kumar 2 & Ekta Rai 1 Received: 30 April 2019 / Accepted: 24 February 2020 # Research Society for Study of Diabetes in India 2020
Abstract Aim Uncoupling protein 3 (UCP3) has been identified as a type 2 diabetes (T2D) candidate gene and variant rs1800849 is of potential interest as it is present in the regulatory region of UCP3. The aim of the present candidate gene case-control association study was to evaluate the association of variant rs1800849 of UCP3 with T2D in Mizo population from Northeast India. Methodology The variation was genotyped using TaqMan allele discrimination assay in 767 individuals (425 cases and 342 healthy controls). Results The variant rs1800849 of UCP3 was not found to be significantly associated with T2D (p-value = 0.733) in studied population group. Conclusion Thus, it is concluded that the present study could not replicate the association of variant rs1800849 with genetic susceptibility to T2D in the Mizo population group. This absence of association highlights the genetic heterogeneity prevalent in Indian population groups and warrants screening of other T2D candidate genes in Mizo population group. Keywords Type 2 diabetes . Mizo population . UCP3
Introduction UCPs are the uncoupling proteins known to regulate mitochondrial proton leak and are further of 5 types, named UCP1 to UCP5. Among these, UCP2 and UCP3 are found
Sarmeela Sharma, Freda Lalrohlui and Varun Sharma are First Shared Authors Electronic supplementary material The online version of this article (https://doi.org/10.1007/s13410-020-00812-9) contains supplementary material, which is available to authorized users. * Nachimuthu Senthil Kumar [email protected] * Ekta Rai [email protected] 1
Human Genetics Research Group, School of Biotechnology, Shri Mata Vaishno Devi University, Katra, J&K, India
2
Department of Biotechnology, Mizoram University, Aizawl, Mizoram, India
3
Department of Pathology, Civil Hospital, Aizawl, Mizoram 796004, India
to be significantly linked to T2D [1]. UCP3 plays a prominent role in the downregulation of ROS in mitochondria [2, 3] and in free fatty acid (FFA) metabolism and transport which are potential mechanism for T2D pathogenesis [4]. The mRNA levels of UCP3 were found to be decreased in skeletal muscles of patients suffering from T2D when compared with healthy control subjects [5] implying its protective role in the development of T2D. UCP3 helps recover against cardiac IR, a cardiovascular complication in T2D which is known to contribute most to T2D mortality rate [6, 7]. UCP3 gene is also proposed to be a major PPAR-γ (subtype of PPAR) target known to be implicated in the modulation of insulin resistance [8]. Reduced activity of PPAR-γ is found to be associated with se
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