AI Article Synopsis

  • Whole-exome sequencing was used to analyze genetic variations related to obesity in a group of 288 native Arabs in Kuwait, revealing mitochondrial DNA's role in obesity risk.
  • Variants and haplogroups were identified, showing that haplogroup R decreases obesity risk while haplogroup L increases it; significant differences in mitochondrial mutations between obese and non-obese groups were also noted.
  • Findings confirm the effectiveness of whole-exome sequencing in studying mitochondrial haplogroups and their association with obesity for the first time in this specific population.

Article Abstract

Background/objectives: Whole-exome sequencing is a valuable tool to determine genetic variations that are associated with rare and common health conditions. A limited number of studies demonstrated that mitochondrial DNA can be captured using whole-exome sequencing. Previous studies have suggested that mitochondrial DNA variants and haplogroup lineages are associated with obesity. Therefore, we investigated the role of mitochondrial variants and haplogroups contributing to the risk of obesity in Arabs in Kuwait using exome sequencing data.

Subjects/methods: Indirect mitochondrial genomes were extracted from exome sequencing data from 288 unrelated native Arab individuals from Kuwait. The cohort was divided into obese [body mass index (BMI) ≥ 30 kg/m] and non-obese (BMI < 30 kg/m) groups. Mitochondrial variants were identified, and haplogroups were classified and compared with other sequencing technologies. Statistical analysis was performed to determine associations and identify mitochondrial variants and haplogroups affecting obesity.

Results: Haplogroup R showed a protective effect on obesity [odds ratio (OR) = 0.311; = 0.006], whereas haplogroup L individuals were at high risk of obesity (OR = 2.285; = 0.046). Significant differences in mitochondrial variants between the obese and non-obese groups were mainly haplogroup-defining mutations and were involved in processes in energy generation. The majority of mitochondrial variants and haplogroups extracted from exome were in agreement with technical replica from Sanger and whole-genome sequencing.

Conclusions: This is the first to utilize whole-exome data to extract entire mitochondrial haplogroups to study its association with obesity in an Arab population.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7920096PMC
http://dx.doi.org/10.3389/fgene.2021.626260DOI Listing

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