Genetic association study of C5178A and G10398A mitochondrial DNA variants with type 2 diabetes in Bangladeshi population

Saha, Sajoy Kanti; Akther, Jobaida; Huda, Nafiul; Yasmin, Tahirah; Alam, Md Sohrab; Hosen, Md. Ismail; Hasan, A. K. M. Mahbub; Nabi, Ahm Nurun

doi:10.1016/j.mgene.2018.10.004

Cited by 4 publications

(3 citation statements)

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“…Our recent finding demonstrated protective role of G10398A polymorphism (within NADH dehydrogenase subunit 3 or ND3 gene) while C5178A variant (within NADH dehydrogenase subunit 2 or ND2 gene) was found to be associated with the risk of T2D ( Saha et al., 2019 ). However, data regarding the association of hypervariable region of mtDNA with T2D with respect to Bangladeshi population are completely lacking.…”

Section: Introductionmentioning

confidence: 87%

“…Cellular fraction of blood was used for the extraction of genomic and mtDNA. Genomic DNA was extracted using the organic phenol chloroform extraction methods as described in our previous studies ( Huda et al, 2018 ; Goswami et al, 2021 ) while mtDNA was extracted and confirmed according to the protocol described by Saha et al (2019) .…”

Section: Methodologiesmentioning

confidence: 99%

“…Variations within mtDNA have been shown to augment the production of reactive oxygen species which in turn further deteriorate the pathological conditions in patients with T2D ( Rösen et al, 2001 ). Many of these variants have been identified within the coding regions of mitochondrial genome with incompatible results ( Jiang et al, 2021 ; Saha et al, 2019 ; Sun et al, 2019 ). On the other hand, polymorphisms in the non-coding D loop region have important contribution to the proper functioning of mitochondria ( Liou et al, 2010 , 2012 ).…”

Section: Introductionmentioning

confidence: 99%

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Evaluation of D-loop hypervariable region I variations, haplogroups and copy number of mitochondrial DNA in Bangladeshi population with type 2 diabetes

Saha

Saba

Hasib

et al. 2021

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The profound impact of mitochondrion in cellular metabolism has been well documented. Since type 2 diabetes (T2D) is a metabolic disorder, mitochondrial dysfunction is intricately linked with the disease pathogenesis. Mitochondrial DNA (mtDNA) variants are involved with functional dysfunction of mitochondrion and play a pivotal role in the susceptibility to T2D. In this study, we opted to find the association of mtDNA variants within the D-loop hypervariable region I (HVI), haplogroups and mtDNA copy number with T2D in Bangladeshi population. A total of 300 unrelated Bangladeshi individuals (150 healthy and 150 patients with T2D) were recruited in the present study, their HVI regions were amplified and sequenced using Sanger chemistry. Haplogrep2 and Phylotree17 tools were employed to determine the haplogroups. MtDNA copy number was measured using primers of mitochondrial tRNA Leu (UUR) gene and nuclear β2-microglobulin gene. Variants G16048A (OR:0.12, p = 0.04) and G16129A (OR: 0.42, p = 0.007) were found to confer protective role against T2D according to logistic regression analysis. However along with G16129A, two new variants C16294T and T16325C demonstrated protective role against T2D when age and gender were adjusted. Haplogroups A and H showed significant association with the risk of T2D after adjustments out of total 19 major haplogroups identified. The mtDNA copy numbers were stratified into 4 groups according to the quartiles (groups with lower, medium, upper and higher mtDNA copy numbers were respectively designated as LCN, MCN, UCN and HCN). Patients with T2D had significantly lower mtDNA copy number compared to their healthy counterparts in HCN group. Moreover, six mtDNA variants were significantly associated with mtDNA copy number in the participants. Thus, our study confers that certain haplogroups and novel variants of mtDNA are significantly associated with T2D while decreased mtDNA copy number (though not significant) has been observed in patients with T2D. However, largescale studies are warranted to establish association of novel variants and haplogroup with type 2 diabetes.

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Section: Introductionmentioning

confidence: 87%