Polymorphism In Caucasian Populations Research Articles

Polymorphism G1359A of the cannabinoid receptor gene (CNR1): allelic frequencies and influence on cardiovascular risk factors in a multicentre study of Castilla-Leon.

A polymorphism (1359 G/A) of the CNR1 gene was reported as a common polymorphism in Caucasian populations and was related to cardiovascular risk factors. The present study aimed to investigate the allelic distribution of polymorphism (G1359A) of the CB1 receptor gene in a geographical area of Spain (Community of Castilla y Leon) and to evaluate the influence of this polymorphism on obesity anthropometric parameters and cardiovascular risk factors in the fasted state in obese patients. A population of 341 obese subjects was analysed. Tetrapolar electrical bioimpedance measurement, blood pressure measurement, a serial assessment of nutritional intake with 3days of written food records and a biochemical analysis were all performed. One hundred and seventy-seven patients (51.9%) had the genotype G1359G (wild-type group) and 164 (48.1%) patients were A carriers: G1359A (136 patients; 39.9%) or A1359A (28 patients; 8.2%) (mutant type group). The Health Area of Palencia had a lower frequency of wild-type genotype and G allelic frequency than all the other Health Areas. Segovia and Burgos Areas had a higher frequency of wild-type genotype and G allelic frequency than the other Health Areas. High-density lipoprotein (HDL) cholesterol was higher in the mutant type group and blood tryglicerides were lower in the same group. In conclusion, the novel finding of the present study is the association of the mutant type group G1359A and A1359A with a better lipid profile (triglycerides and HDL cholesterol) than the wild-type group. The frequencies of this polymorphism are different among Health Areas of Castilla y Leon (Spain).

Genetic variation in the cannabinoid receptor gene (CNR1) (G1359A polymorphism) and their influence on anthropometric parameters and metabolic parameters under a high monounsaturated vs. high polyunsaturated fat hypocaloric diets

An intragenic polymorphism (1359 G/A) of the cannabinoid receptor 1 (CNR1) gene was reported as a common polymorphism in Caucasian populations (rs1049353). Intervention studies with this polymorphism have yield contradictories results. We decide to investigate the role of polymorphism (G1359A) of (CNR1) gene on metabolic parameters and weight loss secondary to a high monounsaturated fat and high polyunsaturated fat hypocaloric diets in obese subjects. A population of 258 obese subjects was analyzed in a randomized trial. A nutritional evaluation was performed at the beginning and at the end of a 3-month period in which subjects received 1 of 2 diets (diet M: high monounsaturated fat diet vs diet P: high polyunsaturated fat diet). One hundred and sixty five patients (63.9%) had the genotype G1359G and 93 (36.1%) patients (A allele carriers) had G1359A (78 patients,30.3%) or A1359A (15 patients,5.8%) genotypes. In subjects with both genotypes, body mass index, weight, fat mass, waist circumference and systolic blood pressures decreased with both diets. With the diet-type M and in both genotype groups, biochemical parameters remained unchanged. After the diet type P and in subjects with both genotypes, glucose, total cholesterol, low-density lipoprotein (LDL) cholesterol, insulin and homeostasis model assessment for insulin resistance (HOMA-IR) levels decreased. In G1359G genotype subjects after both diets, leptin levels decreased. The finding of this study is the association of the A allele with a lack of improvement on leptin levels. Subjects with both genotypes and after a high polyunsaturated fat hypocaloric diet showed a significant improvement of LDL cholesterol, total cholesterol, HOMA-IR and insulin levels.

Relation of G1359A polymorphism of the cannabinoid receptor (CB1) gene with metabolic syndrome by ATP III classification

A polymorphism (1359 G/A) of the cannabinoid type-1 receptor gene was reported as a common polymorphism in Caucasian populations. Some metabolic disorders are related to this polymorphism. The aim of our study was to investigate the association between metabolic syndrome and this polymorphism. A population of 917 obese patients was analysed in a cross-sectional survey. Bioimpedance, blood pressure, an assessment of nutritional intake and biochemical analysis were recorded. Five hundred and twelve patients (55.8%) had the genotype G1359G (wild-type group), whereas 344 (37.5%) had genotype G1359A and 61 (6.7%) patients had A1359A. (G1359A and A1359A were included in the mutant-type group; 44.2% total). In wild type patients, metabolic syndrome prevalence was higher (54.9% versus 45.1%; p < 0.05) than no metabolic syndrome prevalence. In patients with mutant genotypes, metabolic syndrome prevalence was lower (43.7% versus 56.3%; p < 0.05). Glucose, insulin and homeostasis model assessment levels were higher in patients with the wild genotype than in those with the mutant type. Adiponectin levels were lower in patients with the wild genotype than in those with the mutant type. The novel finding of this study is the association of the G1359A and A1359A cannabinoid type-1 genotypes with a lower prevalence of metabolic syndrome than the G1359G genotype.

Role of G1359A polymorphism of the cannabinoid receptor gene on weight loss and adipocytokines levels after two different hypocaloric diets

BackgroundA silent intragenic polymorphism (1359 G/A) of the cannabinoid receptor 1 gene resulting in the substitution of the G to A at nucleotide position 1359 in codon 435 (Thr) was reported as a common polymorphism in Caucasian populations. Intervention studies with this polymorphism have not been realized. ObjectiveWe decide to investigate the role of missense polymorphism (G1359A) of cannabinoid receptor 1 gene on adipocytokines response and weight loss secondary to a low-fat versus a low-carbohydrate diet in obese patients. DesignA population of 249 patients was analyzed. A nutritional evaluation was performed at the beginning and at the end of a 3-month period in which subjects received one of two diets (diet I: low fat vs. diet II: low carbohydrate). ResultsOne hundred forty three patients (57.4%) had the genotype G1359G (wild-type group), and 106 (42.6%) patients had G1359A (92 patients, or 36.9%) or A1359A (14 patients, or 5.6%; mutant-type group). With both diets in wild-type and mutant-type groups, body mass index (BMI), weight, fat mass, waist circumference and systolic blood pressure levels decreased. With both diets and in wild-type group, glucose, total cholesterol and insulin levels and homeostasis model assessment test score decreased. No metabolic effects were observed in mutant-type group. Leptin levels decreased significantly in the wild-type group with both diets (diet I: 10.8% vs. diet II: 28.9%; P<.05). ConclusionThe novel finding of this study is the lack of metabolic improvement of the mutant-type groups G1359A and A1359A after weight loss with both diets. Decrease in leptin level was higher with low-carbohydrate diet than low-fat diet.

Papel del polimorfismo G1359A del gen del receptor endocanabinoide tipo 1 (CNR1) en la perdida de peso y adipocitoquinas tras una dieta hipocalórica

Background: A intragenic biallelic polymorphism (1359 G/A) of the CB1 gene resulting in the substitution of the G to A at nucleotide position 1359 in codon 435 (Thr), was reported as a common polymorphism in Caucasian populations. Intervention studies with this polymorphism have not been realized. Objective: We decided to investigate the role of the polymorphism (G1359A) of CB1 receptor gene on adipocytokines response and weight loss secondary to a lifestyle modification (Mediterranean hypocaloric diet and exercise) in obese patients. Design: A population of 94 patients with obesity was analyzed. Before and after 3 months on a hypocaloric diet, an anthropometric evaluation, an assessment of nutritional intake and a biochemical analysis were performed. The statistical analysis was performed for the combined G1359A and A1359A as a group and wild type G1359G as second group, with a dominant model. Results: Forty seven patients (50%) had the genotype G1359G (wild type group) and 47 (50%) patients G1359A (41 patients,43.6%) or A1359A (6 patients,6.4%) (mutant type group) had the genotype. In wild and mutant type groups, weight, body mass index, fat mass, waist circumference and systolic blood pressure decreased. In mutant type group, resistin (4.15+1.7 ng/ml vs. 3.90+2.1 ng/ml:P<0.05), leptin (78.469 ng/ml vs 66.232 ng/ml:P<0.05) and IL-6 (1.401.9 pg/ml vs 0.811.5 pg/ml:P<0.05) levels decreased after dietary treatment. Conclusion: The novel finding of this study is the association of the mutant allele (A1359) with a decrease of resistin, leptin and interleukin-6 secondary to weight loss.

Roles of G1359A polymorphism of the cannabinoid receptor gene (CNR1) on weight loss and adipocytokines after a hypocaloric diet.

A intragenic biallelic polymorphism (1359 G/A) of the CB1 gene resulting in the substitution of the G to A at nucleotide position 1359 in codon 435 (Thr), was reported as a common polymorphism in Caucasian populations. Intervention studies with this polymorphism have not been realized. We decided to investigate the role of the polymorphism (G1359A) of CB1 receptor gene on adipocytokines response and weight loss secondary to a lifestyle modification (Mediterranean hypocaloric diet and exercise) in obese patients. A population of 94 patients with obesity was analyzed. Before and after 3 months on a hypocaloric diet, an anthropometric evaluation, an assessment of nutritional intake and a biochemical analysis were performed. The statistical analysis was performed for the combined G1359A and A1359A as a group and wild type G1359G as second group, with a dominant model. Forty seven patients (50%) had the genotype G1359G (wild type group) and 47 (50%) patients G1359A (41 patients, 43.6%) or A1359A (6 patients, 6.4%) (mutant type group) had the genotype. In wild and mutant type groups, weight, body mass index, fat mass, waist circumference and systolic blood pressure decreased. In mutant type group, resistin (4.15 ± 1.7 ng/ml vs. 3.90 ± 2.1 ng/ml: P < 0.05), leptin (78.4 ± 69 ng/ml vs 66.2 ± 32 ng/ml: P < 0.05) and IL-6 (1.40 ± 1.9 pg/ml vs 0.81 ± 1.5 pg/ml: P < 0.05) levels decreased after dietary treatment. The novel finding of this study is the association of the mutant allele (A1359) with a decrease of resistin, leptin and interleukin-6 secondary to weight loss.

G1359A polymorphism of the cannabinoid receptor gene (CNR1) and insulin resistance in patients with diabetes mellitus type 2.

A silent intragenic biallelic polymorphism (1359 G/A) (rs1049353) of the CB1 gene resulting in the substitution of the G to A at nucleotide position 1359 in codon 435 (Thr), was reported as a common polymorphism in Caucasian populations. The aim of our study was to investigate the influence of the missense polymorphism (G1359A) of CB1 receptor gene on obesity anthropometric parameters, cardiovascular risk factors and adipocytokines in patients with obesity and diabetes mellitus type 2. A population of 60 naïve diabetic patients was analyzed. An indirect calorimetry, tetrapolar electrical bioimpedance, blood pressure, a serial assessment of nutritional intake with 3 days written food records and biochemical analysis (lipid profile, adipocytokines, insulin, CRP and lipoprotein-a) were performed. The statistical analysis was performed for the combined G1359A and A1359A as a group and wild type G1359G as second group, with a dominant model. The mean age was 57.44 +/- 11.7 years and the mean BMI 37.84 +/- 6.4, with 14 males and 46 females. Thirty-five patients (58.3%) had genotype G1359G (wild type group) and 25 (42.7%) patients G1359A (mutant type group). Age was similar in both groups (wild type: 56.3 +/- 11.8 years vs mutant group: 58.7 +/- 10 years:ns). Sex distribution was similar in both groups (wild vs mutant type groups), males (22.9% vs 24%) and females (77.1% vs 76%). No differences were detected between groups in anthropometric parameters, cardiovascular risk factors, dietary intake and adipocytokines levels. The finding of this study is the lack of association of G1359A polymorphism of CB receptor 1 gene with obesity, cardiovascular risk factors and adipocytokines.

Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes

The ATP-sensitive potassium (KATP) channel couples membrane excitability to cellular metabolism and is a critical mediator in the process of glucose-stimulated insulin secretion. Increasing numbers of KATP channel polymorphisms are being described and linked to altered insulin secretion indicating that genes encoding this ion channel could be susceptibility markers for type-2 diabetes. Genetic variation of KATP channels may result in altered beta-cell electrical activity, glucose homeostasis, and increased susceptibility to type-2 diabetes. Of particular interest is the Kir6.2 E23K polymorphism, which is linked to increased susceptibility to type-2 diabetes in Caucasian populations and may also be associated with weight gain and obesity, both of which are major diabetes risk factors. This association highlights the potential contribution of both genetic and environmental factors to the development and progression of type-2 diabetes. In addition, the common occurrence of the E23K polymorphism in Caucasian populations may have conferred an evolutionary advantage to our ancestors. This review will summarize the current status of the association of KATP channel polymorphisms with type-2 diabetes, focusing on the possible mechanisms by which these polymorphisms alter glucose homeostasis and offering insights into possible evolutionary pressures that may have contributed to the high prevalence of KATP channel polymorphisms in the Caucasian population.

Polymorphism of the seventh component of complement (C7) in a healthy caucasian population: An immunoblotting study with neuraminidase-treated samples

Genetic polymorphism of the seventh component of complement (C7) was studied in a healthy Caucasian population using polyacrylamide gel isoelectric focusing of neuraminidase-treated plasma samples and an immunoblotting procedure for the specific detection of C7. Among 248 blood donors, three C7-3/1 heterozygotes were identified, resulting in a C7 ∗3 allele frequency of 0.0061 ± 0.0035. Neuraminidase treatment of serum or plasma samples is necessary for unequivocal identification of C7 ∗3, which is known to be a hypomorphic variant. This observation is discussed with special reference to previous studies on C7 polymorphism in Caucasian populations, where untreated samples have been used for C7 typing.