Genetics and genomics studies in type 2 diabetes: A brief review of the current scenario in the Arab region

Musambil, Mohthash; Siddiqui, Khalid

doi:10.1016/j.dsx.2019.03.017

Cited by 6 publications

(6 citation statements)

References 18 publications

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“…These metabolic markers are present in diabetes, a serious population health problem that shows the highest prevalence in the MENA region with >10% of the population being diabetic 57 . Therefore, it would be preferable to investigate whether the amylase genes associated with diabetes in our population in addition to the predisposing genetic factors already described in Arabs 58,59 . Moreover, MGAM is another gene involved in such metabolic pathways and was associated with non-syndromic oral clefts, a common birth defect 60 .…”

Section: Discussionmentioning

confidence: 99%

A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa

et al. 2021

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Copy number variation (CNV) is considered as the most frequent type of structural variation in the human genome. Some CNVs can act on human phenotype diversity, encompassing rare Mendelian diseases and genomic disorders. The North African populations remain underrepresented in public genetic databases in terms of single-nucleotide variants as well as for larger genomic mutations. In this study, we present the first CNV map for a North African population using the Affymetrix Genome-Wide SNP (single-nucleotide polymorphism) array 6.0 array genotyping intensity data to call CNVs in 102 Tunisian healthy individuals. Two softwares, PennCNV and Birdsuite, were used to call CNVs in order to provide reliable data. Subsequent bioinformatic analyses were performed to explore their features and patterns. The CNV map of the Tunisian population includes 1083 CNVs spanning 61.443 Mb of the genome. The CNV length ranged from 1.017 kb to 2.074 Mb with an average of 56.734 kb. Deletions represent 57.43% of the identified CNVs, while duplications and the mixed loci are less represented. One hundred and three genes disrupted by CNVs are reported to cause 155 Mendelian diseases/phenotypes. Drug response genes were also reported to be affected by CNVs. Data on genes overlapped by deletions and duplications segments and the sequence properties in and around them also provided insights into the functional and health impacts of CNVs. These findings represent valuable clues to genetic diversity and personalized medicine in the Tunisian population as well as in the ethnically similar populations from North Africa.

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Section: Discussionmentioning

confidence: 99%

A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa

et al. 2021

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“…Despite the heterogeneity within the MENA countries in terms of culture, income, population size, and sociopolitical stability[ 5 , 6 ], multiple common predisposing factors for diabetes have been implicated, including aging of the population, the change in lifestyle with reduction in physical activity, and increased consumption of calories and unhealthy food items, which have led to a rise in the prevalence of overweightness and obesity[ 2 ]. Genetic and epigenetic factors may also be contributing elements[ 7 ]; in a region that has a high rate of consanguinity[ 8 ], multiple gene loci that predispose to diabetes have been identified in the Eastern Mediterranean Region (EMR) population[ 9 ]. In addition to diabetes, prediabetes has been identified in a sizable proportion of the MENA population[ 2 ], out of whom a majority is expected to progress to diabetes over time[ 10 ].…”

Section: Introductionmentioning

confidence: 99%

Epidemiology of type 2 diabetes in the Middle East and North Africa: Challenges and call for action

El‐Kebbi¹,

Bidikian²,

Hneiny³

et al. 2021

WJD

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Type 2 diabetes continues to be a serious and highly prevalent public health problem worldwide. In 2019, the highest prevalence of diabetes in the world at 12.2%, with its associated morbidity and mortality, was found in the Middle East and North Africa region. In addition to a genetic predisposition in its population, evidence suggests that obesity, physical inactivity, urbanization, and poor nutritional habits have contributed to the high prevalence of diabetes and prediabetes in the region. These risk factors have also led to an earlier onset of type 2 diabetes among children and adolescents, negatively affecting the productive years of the youth and their quality of life. Furthermore, efforts to control the rising prevalence of diabetes and its complications have been challenged and complicated by the political instability and armed conflict in some countries of the region and the recent coronavirus disease 2019. Broad strategies, coupled with targeted interventions at the regional, national, and community levels are needed to address and curb the spread of this public health crisis.

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“…We have obtained statistical evidence suggesting that a structural deletion in or near the KCTD8 (Potassium Channel Tetramerization Domain Containing 8) gene could potentially increase body condition score. Additionally, it has been reported that an SNP in the Arabic population may be linked to diabetes ( Musambil and Siddiqui, 2019 ). While clear associations between this gene and obesity traits are lacking, it is of interest due to its role in bitter and sweet taste signaling pathways.…”

Section: Discussionmentioning

confidence: 99%

Uncovering structural variants associated with body weight and obesity risk in labrador retrievers: a genome-wide study

Antkowiak,

Szydlowski

2023

Front. Genet.

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Although obesity in the domestic dog (Canis lupus familiaris) is known to decrease well-being and shorten lifespan, the genetic risk variants associated with canine obesity remain largely unknown. In our study, which focused on the obesity-prone Labrador Retriever breed, we conducted a genome-wide analysis to identify structural variants linked to body weight and obesity. Obesity status was based on a 5-point body condition score (BCS) and the obese dog group included all dogs with a BCS of 5, along with dogs with the highest body weight within the BCS 4 group. Data from whole-gene sequencing of fifty dogs, including 28 obese dogs, were bioinformatically analyzed to identify potential structural variants that varied in frequency between obese and healthy dogs. The seven most promising variants were further analyzed by droplet digital PCR in a group of 110 dogs, including 63 obese. Our statistical evidence suggests that common structural mutations in or near six genes, specifically ALPL, KCTD8, SGSM1, SLC12A6, RYR3, and VPS26C, may contribute to the variability observed in body weight and body condition scores among Labrador Retriever dogs. These findings emphasize the need for additional research to validate the associations and explore the specific functions of these genes in relation to canine obesity.

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Genetics and genomics studies in type 2 diabetes: A brief review of the current scenario in the Arab region

Cited by 6 publications

References 18 publications

A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa

A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa

Epidemiology of type 2 diabetes in the Middle East and North Africa: Challenges and call for action

Uncovering structural variants associated with body weight and obesity risk in labrador retrievers: a genome-wide study

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