Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children

Antúnez-Ortiz, Diana Lizzete; Flores‐Alfaro, Eugenia; Burguete-García, Ana I.; Bonnefond, Amélie; Peralta‐Romero, Jesús; Froguel, Philippe; Espinoza-Rojo, Mónica; Cruz, Miguel

doi:10.1155/2017/2432957

Cited by 10 publications

(8 citation statements)

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“…As with all association studies, this could be due to an array of factors including ethnic, study design and methodological differences, or gene-environment interactions, among others [ 36 , 37 ]. The lack of association of the 1p31.1/ NEGR1 CNV is in agreement with previous reports in Mexican children and adults where rs2815752 (in high LD with 1p31.1/ NEGR1 CNV) was not associated with obesity [ 12 , 38 ], but in disagreement with the findings of Antúnez-Ortiz et al who found a significant association of another NEGR1 CNV in a group of Mexican children [ 39 ]. Regarding the GPCR5 CNV, it has been previously suggested that the effect of the deletion of CNV is ethnic-specific, as it was significantly associated with obesity in Europeans, who have a higher CNV deletion frequency (0.27); but not in the Chinese population who have a lower CNV deletion frequency (0.008) [ 40 ].…”

Section: Discussionsupporting

confidence: 82%

Low Salivary Amylase Gene (AMY1) Copy Number Is Associated with Obesity and Gut Prevotella Abundance in Mexican Children and Adults

et al. 2018

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Genome-wide association studies (GWAS) have identified copy number variants (CNVs) associated with obesity in chromosomal regions 1p31.1, 10q11.22, 11q11, 16p12.3, and recently 1p21.1, which contains the salivary amylase gene (AMY1). Recent evidence suggests this enzyme may influence gut microbiota composition through carbohydrate (mainly starch) degradation. The role of these CNVs in obesity has been scarcely explored in the Latino population, and thus the aim of our study was to evaluate the association of 1p31.1, 10q11.22, 11q11, 16p12.3 and 1p21.1 CNVs with obesity in 921 Mexican children, to replicate significant associations in 920 Mexican adults, and to analyze the association of AMY1 copy number with gut microbiota in 75 children and 45 adults. Of the five CNVs analyzed, 1q11 CNV was significantly associated with obesity in children, but not in adults. Only AMY1 CNV was significantly associated with obesity in both age groups. Moreover, gut microbiota analyses revealed a positive correlation between AMY1 copy number and Prevotella abundance. This genus has enzymes and gene clusters essential for complex polysaccharide degradation and utilization. To our knowledge, this is the first study to analyze the association of these five CNVs in the Mexican population and to report a correlation between AMY1 CN and gut microbiota in humans.

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Section: Discussionsupporting

confidence: 82%

Low Salivary Amylase Gene (AMY1) Copy Number Is Associated with Obesity and Gut Prevotella Abundance in Mexican Children and Adults

et al. 2018

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“…4 5 The majority of fat is stored in the subcutaneous adipose tissue even though, in some individuals, excessive amounts may be accumulated intra-abdominally (visceral fat). 2 The visceral accumulation of body fat is due to genetic factors, [6][7][8][9][10][11][12] neuroendocrine perturbations 13 and environmental and lifestyle factors. 14 The combination of over consumption of energy-dense food and a sedentary lifestyle are well known to play a role in the accumulation of visceral fat.…”

Section: Introductionmentioning

confidence: 99%

Prevalence of abdominal obesity and its association with cardiovascular risk among the adult population in Burkina Faso: findings from a nationwide cross-sectional study

Cissé

Samadoulougou

Ouédraogo³

et al. 2021

BMJ Open

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ObjectiveThe objective of this study is to determine the prevalence of abdominal obesity, its predictors and its association with cardiovascular risk among adults in Burkina Faso.DesignWe performed a secondary analysis of data from a national cross-sectional study, using WHO STEPwise approach.SettingThe study was conducted in Burkina Faso, in all the 13 regions of the country.ParticipantsOur study involved 4308 adults of both sexes, aged between 25 and 64 years.Primary and secondary outcomesOur primary outcome was abdominal obesity, which was defined using a cut-off point of waist circumference (WC) of ≥94 cm for men and ≥80 cm for women. The secondary outcome was very high WC (≥102 cm for men and ≥88 cm for women) (for whom weight management is required).ResultsThe mean age of participants was 38.5±11.1 years. The age-standardised prevalence of abdominal obesity was 22.5% (95% CI 21.3% to 23.7%). This prevalence was 35.9% (95% CI 33.9% to 37.9%) among women and 5.2% (95% CI 4.3% to 6.2%) among men. In urban areas, the age-standardised prevalence of abdominal obesity was 42.8% (95% CI 39.9% to 45.7%) and 17.0% (95% CI 15.7% to 18.2%) in rural areas. The age-standardised prevalence of very high WC was 10.2% (95% CI 9.3% to 11.1%). The main predictors of abdominal obesity were being female, increased age, married status, high level of education and living in urban areas. Abdominal obesity was also significantly associated with high blood pressure (adjusted prevalence ratio (aPR): 1.30; 95% CI 1.14 to 1.47) and hypercholesterolaemia (aPR: 1.52; 95% CI 1.18 to 1.94). According to the combination matrix between body mass index and WC, 14.6% of the adult population in Burkina Faso had an increased cardiometabolic risk.ConclusionOur study showed a high prevalence of abdominal obesity and a high proportion of adults who require weight management strategies to prevent cardiometabolic complications. Strategies to reduce the burden of abdominal obesity and very high WC should be considered by Burkina Faso’s policy-makers.

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“…In contrast, works revealed by Xu et al [ 20 , 21 ], Yang et al [ 26 ] and Liu et al [ 24 ] found that gains in the copy number of the MYH3, MICAL-L1, CYP4A11 and MAPK10 genes were associated with high body weight, chest girth, body length and height in Chinese cattle. In agreement with these findings, losses in copy numbers of the insulin ( INS ) gene were associated with increased body mass index and waist circumference in humans [ 56 ]. Disagreement with these findings, gains in copy numbers of LEPR and neuronal growth regulator 1 ( NEGR1 ) gene were associated with a decreased body mass index, waist circumference and risk of abdominal obesity in human [ 56 ].…”

Section: Discussionmentioning

confidence: 74%

“…In agreement with these findings, losses in copy numbers of the insulin ( INS ) gene were associated with increased body mass index and waist circumference in humans [ 56 ]. Disagreement with these findings, gains in copy numbers of LEPR and neuronal growth regulator 1 ( NEGR1 ) gene were associated with a decreased body mass index, waist circumference and risk of abdominal obesity in human [ 56 ]. Various CNVs unquestionably exert significant effects on meat production and reproduction traits in cattle [ 57 ].…”

Section: Discussionmentioning

confidence: 74%

Copy Number Variations of KLF6 Modulate Gene Transcription and Growth Traits in Chinese Datong Yak (Bos Grunniens)

Goshu

Chen

et al. 2018

Animals

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Simple SummaryAssociating copy number variations (CNVs) with growth and gene expression are a powerful approach for identifying genomic characteristics that contribute to phenotypic and genotypic variation. A previous study using next-generation sequencing illustrated that the KLF6 gene resides within CNV regions (CNVRs) of yak populations that overlap with quantitative trait loci (QTLs) of meat quality and growth. As a result, this research aimed to assess the prevalence of KLF6 CNVs in five Chinese domestic yak breeds and to determine their association with growth and gene expression level. These results confirmed the significant function of KLF6 CNVRs in determining the mRNA expression levels of this gene in Bos grunniens skeletal muscles and the expression of this gene affects quantitative growth traits in yak populations through the negative relationship between DNA copy numbers and gene expression. This work provides the first observation of the biological role of KLF6 CNVs in Chinese Datong yak breeds and might therefore provide a novel opportunity to utilize data on CNVs in designing molecular markers for the selection of animal breeding programs for larger populations of various yak breeds.AbstractCopy number variation (CNV) is a significant marker of the genetic and phenotypic diversity among individuals that accounts for complex quantitative traits of phenotype and diseases via modulating gene dosage and disrupting coding regions in the genome. Biochemically, Kruppel-like factor 6 (KLF6) genes plays a significant role in the regulation of cell differentiation and proliferation and muscle development. The aim of this study was to detect the distributions of KLF6 copy number variations (CNVs) in five breeds of domestic yak and to explore their effect on growth traits and gene expression. The data were analyzed by real-time quantitative PCR (qPCR). Our results elucidated that a decreased CNV in the KLF6 gene is more highly associated (p < 0.05) with various growth traits than increased or normal CNVs in six-month-old and five-year-old Datong yak. Nevertheless, negative correlations between the DNA copy number and KLF6 gene expression were observed in the skeletal muscle of adult Datong yak. These results suggest that CNVs of the KLF6 gene could be crucial genomic markers for growth phenotypes of Chinese Datong yak breeds and this finding constitutes the first evidence of the biological role of KLF6 CNVs in Chinese Datong yak breeds.

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Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children

Cited by 10 publications

References 46 publications

Low Salivary Amylase Gene (AMY1) Copy Number Is Associated with Obesity and Gut Prevotella Abundance in Mexican Children and Adults

Low Salivary Amylase Gene (AMY1) Copy Number Is Associated with Obesity and Gut Prevotella Abundance in Mexican Children and Adults

Prevalence of abdominal obesity and its association with cardiovascular risk among the adult population in Burkina Faso: findings from a nationwide cross-sectional study

Copy Number Variations of KLF6 Modulate Gene Transcription and Growth Traits in Chinese Datong Yak (Bos Grunniens)

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