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Background: Animal and cell model studies have implicated CAV1 in the pathophysiology of metabolic disorders. Our previous studies demonstrated a potential association of CAV1 rs1997623 C/A variant with pediatric metabolic syndrome (MetS) in Arab children. In the present study, we evaluate whether the CAV1 variant associates with MetS Arab adults as well. The association signal is further examined for ancestry-specific variation by considering cohorts of other ethnicities. Method: The CAV1 rs1997623 was genotyped in three cohorts of Arab (n = 479), South Asian (n = 660), and South East Asian (n = 362) ethnic adults from Kuwait. MetS status of the individuals was diagnosed using the IDF criteria (presence of central obesity and at least two abnormalities out of: elevated TG, low HDL, hypertension, or T2D). The quantitative measure of MetS was calculated as siMS = 2 × WC/Height + FBG/5.6 + TG/1.7 + SBP/130–HDL/1.02 for males or HDL/1.28 for females. Allelic associations with quantitative and dichotomous MetS traits were assessed using linear and logistic regression models adjusted for age and sex. In addition, empirical p-values (Pemp) were generated using max(T) permutation procedure based on 10,000 permutations. Results: The CAV1 variant was significantly associated with MetS status (OR = 1.811 [1.25–2.61]; p-value = 0.0015; Pemp = 0.0013) and with siMS (Effect size = 0.206; p-value = 0.0035; Pemp = 0.0028) in the cohort of Arab individuals. The association was weak and insignificant in the South Asian and South East Asian cohorts (OR = 1.19 and 1.11; p-values = 0.25 and 0.67, respectively). Conclusion: The reported association of CAV1 rs1997623 C/A with MetS in Arab pediatric population is now demonstrated in an adult Arab cohort as well. The weak association signal seen in the Asian cohorts lead us to propose a certain extent of ethnic-specificity in CAV1 rs1997623 association with MetS. [ABSTRACT FROM AUTHOR]

Background: Animal and cell model studies have implicated CAV1 in the pathophysiology of metabolic disorders. Our previous studies demonstrated a potential association of CAV1 rs1997623 C/A variant with pediatric metabolic syndrome (MetS) in Arab children. In the present study, we evaluate whether the CAV1 variant associates with MetS Arab adults as well. The association signal is further examined for ancestry-specific variation by considering cohorts of other ethnicities.Method: The CAV1 rs1997623 was genotyped in three cohorts of Arab (n = 479), South Asian (n = 660), and South East Asian (n = 362) ethnic adults from Kuwait. MetS status of the individuals was diagnosed using the IDF criteria (presence of central obesity and at least two abnormalities out of: elevated TG, low HDL, hypertension, or T2D). The quantitative measure of MetS was calculated as siMS = 2 × WC/Height + FBG/5.6 + TG/1.7 + SBP/130–HDL/1.02 for males or HDL/1.28 for females. Allelic associations with quantitative and dichotomous MetS traits were assessed using linear and logistic regression models adjusted for age and sex. In addition, empirical p-values (Pemp) were generated using max(T) permutation procedure based on 10,000 permutations.Results: The CAV1 variant was significantly associated with MetS status (OR = 1.811 [1.25–2.61]; p-value = 0.0015; Pemp = 0.0013) and with siMS (Effect size = 0.206; p-value = 0.0035; Pemp = 0.0028) in the cohort of Arab individuals. The association was weak and insignificant in the South Asian and South East Asian cohorts (OR = 1.19 and 1.11; p-values = 0.25 and 0.67, respectively).Conclusion: The reported association of CAV1 rs1997623 C/A with MetS in Arab pediatric population is now demonstrated in an adult Arab cohort as well. The weak association signal seen in the Asian cohorts lead us to propose a certain extent of ethnic-specificity in CAV1 rs1997623 association with MetS.

Aim: Metabolic Syndrome (MetS) is widespread across the world. Gene targeted therapy and risk management are promising approaches for MetS intervention. SUMO4 gene rs237025 polymorphism is related to an increased risk of diabetes, therefore, it is considered a target for the gene polymorphism research of MetS. Methods: A case-control study was performed to study the interaction of rs237025 with MetS and the components of MetS. A 5-years follow-up survey was carried out to elucidate the crosstalk between rs237025 and weight management, and the synergistic effect on MetS. Results: A total of 1,008 MetS patients and 1,047 controls were recruited in this research. By cross-section study, we find that rs237025 is an independent risk factor for increased Waist Circumference (WC), elevated Triglyceride (TG), elevated Fasting Plasma Glucose (FPG), and MetS. Cross-over analysis identifies the interaction of rs237025 and weight management as a risk factor for MetS, the synergistic effects of rs237025 and weight management are negative to WC, TG, and High-density Lipoprotein-cholesterol (HDL-c). Conclusion: SUMO4 gene rs237025 is related to increased risk of MetS, weight management is essential to MetS intervention, especially for patients with rs237025 polymorphism. [ABSTRACT FROM AUTHOR]

Aim: Metabolic Syndrome (MetS) is widespread across the world. Gene targeted therapy and risk management are promising approaches for MetS intervention. SUMO4 gene rs237025 polymorphism is related to an increased risk of diabetes, therefore, it is considered a target for the gene polymorphism research of MetS.Methods: A case-control study was performed to study the interaction of rs237025 with MetS and the components of MetS. A 5-years follow-up survey was carried out to elucidate the crosstalk between rs237025 and weight management, and the synergistic effect on MetS.Results: A total of 1,008 MetS patients and 1,047 controls were recruited in this research. By cross-section study, we find that rs237025 is an independent risk factor for increased Waist Circumference (WC), elevated Triglyceride (TG), elevated Fasting Plasma Glucose (FPG), and MetS. Cross-over analysis identifies the interaction of rs237025 and weight management as a risk factor for MetS, the synergistic effects of rs237025 and weight management are negative to WC, TG, and High-density Lipoprotein-cholesterol (HDL-c).Conclusion:SUMO4 gene rs237025 is related to increased risk of MetS, weight management is essential to MetS intervention, especially for patients with rs237025 polymorphism.

The synergistic effects of genes and the environment on health are explored in three case studies: adult lactase persistence, autism spectrum disorders, and the metabolic syndrome, providing examples of the interactive complexities underlying these phenotypes. Since the phenotypes are the initial targets of evolutionary processes, understanding the specific environmental contexts of the genetic, epigenetic, and proteomic changes associated with these phenotypes is essential in predicting their health implications. Robust databases must be developed on the local scale to deconstruct both the population substructure and the unique components of the environment that stimulate geographically-specific changes in gene expression patterns. To produce these databases and make valid predictions, new, locally-focused and information-dense models are needed that incorporate data on evolutionary ecology, environmental complexity, local geographic patterns of gene expression, and population substructure.

The synergistic effects of genes and the environment on health are explored in three case studies: adult lactase persistence, autism spectrum disorders, and the metabolic syndrome, providing examples of the interactive complexities underlying these phenotypes. Since the phenotypes are the initial targets of evolutionary processes, understanding the specific environmental contexts of the genetic, epigenetic, and environmental changes associated with these phenotypes is essential in predicting their health implications. Robust databases must be developed on the local scale to deconstruct both the population substructure and the unique components of the environment that stimulate geographically specific changes in gene expression patterns. To produce these databases and make valid predictions, new, locally focused, and information-dense models are needed that incorporate data on evolutionary ecology, environmental complexity, local geographic patterns of gene expression, and population substructure. [ABSTRACT FROM AUTHOR]