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Background and Objectives: Recent studies have focused on the association between the risk of diabetic retinopathy (DR) and the rs1501299 and rs2241766 polymorphisms of the ADIPOQ gene; however, their results remain inconclusive. Thus, a systematic review and meta-analysis were carried out to clarify the role of these polymorphisms in the development of DR. Materials and Methods: A systematic search of electronic databases (PubMed, Scopus, and Cochrane Library) was conducted until 25 June 2024, and a reference list of relevant articles was collected, which explored the association between the rs1501299 and rs2241766 polymorphisms of the ADIPOQ gene and the risk of DR. The pooled odds ratios (OR) and 95% confidence intervals (CI) were estimated via random-effects model, and the meta-analysis was implemented by using Review Manager 5.4. Results: In total, 6 out of 182 studies, with 1888 cases (DR) and 2285 controls (without DR), were included in the meta-analysis. A statistically significant association between the rs1501299 polymorphism and the DR risk was recorded in G vs. T in the overall analysis (OR = 0.84, 95% CI = 0.72–0.99, p = <0.05, I2 = 23%, n = 5 studies). Additionally, the summary results in the subgroup analysis according to the control type were as follows: the DR versus diabetes mellitus (DM) control type revealed a statistically significant association in G vs. T: OR = 0.81, 95% CI = 0.67–0.97, p = <0.05, I2 = 27%, n = 4 studies; GG vs. GT: OR = 0.72, 95% CI = 0.53–0.98, p = <0.05, I2 = 49%, n = 4 studies; GG vs. (GT + TT): OR = 0.73, 95% CI = 0.55–0.96, p = <0.05, I2 = 44%, n = 4 studies. No significant association was observed between the rs2241766 polymorphism and the DR risk. Conclusions: The current meta-analysis supports the association between the rs1501299 polymorphism of the ADIPOQ gene and the DR risk in patients with DM. [ABSTRACT FROM AUTHOR]

Type 2 diabetes mellitus (T2DM) is a socially significant disease with increasing prevalence worldwide. It is characterized by heterogeneous metabolic disorders and is associated with various risk factors, including BMI, abnormal lipid levels, hypertension, smoking, dietary preferences, physical inactivity, sedentary lifestyle, family history of diabetes, prediabetes or gestational diabetes, inflammation, intrauterine environment, age, sex, ethnicity, and socioeconomic status. Assessing the genetic risk of developing T2DM in specific populations remains relevant. The ADIPOQ gene, encoding adiponectin, is directly related to the risk of developing T2DM, obesity, and cardiovascular diseases. Our study demonstrated significant associations of ADIPOQ gene polymorphisms with the risk of developing T2DM and obesity, as well as with fasting glucose levels and BMI, in the Kazakh population. Specifically, rs266729 was significantly associated with T2DM and obesity in the Kazakh population, while other studied polymorphisms (rs1501299, rs2241766, and rs17846866) did not show a significant association. These findings suggest that ADIPOQ gene polymorphisms may influence T2DM risk factors and highlight the importance of genetic factors in T2DM development. However, further research in larger cohorts is needed to confirm these associations. [ABSTRACT FROM AUTHOR]

Background and Objectives: Recent studies have focused on the association between the risk of diabetic retinopathy (DR) and the rs1501299 and rs2241766 polymorphisms of the ADIPOQ gene; however, their results remain inconclusive. Thus, a systematic review and meta-analysis were carried out to clarify the role of these polymorphisms in the development of DR. Materials and Methods: A systematic search of electronic databases (PubMed, Scopus, and Cochrane Library) was conducted until 25 June 2024, and a reference list of relevant articles was collected, which explored the association between the rs1501299 and rs2241766 polymorphisms of the ADIPOQ gene and the risk of DR. The pooled odds ratios (OR) and 95% confidence intervals (CI) were estimated via random-effects model, and the meta-analysis was implemented by using Review Manager 5.4. Results: In total, 6 out of 182 studies, with 1888 cases (DR) and 2285 controls (without DR), were included in the meta-analysis. A statistically significant association between the rs1501299 polymorphism and the DR risk was recorded in G vs. T in the overall analysis (OR = 0.84, 95% CI = 0.72–0.99, p = 2 = 23%, n = 5 studies). Additionally, the summary results in the subgroup analysis according to the control type were as follows: the DR versus diabetes mellitus (DM) control type revealed a statistically significant association in G vs. T: OR = 0.81, 95% CI = 0.67–0.97, p = 2 = 27%, n = 4 studies; GG vs. GT: OR = 0.72, 95% CI = 0.53–0.98, p = 2 = 49%, n = 4 studies; GG vs. (GT + TT): OR = 0.73, 95% CI = 0.55–0.96, p = 2 = 44%, n = 4 studies. No significant association was observed between the rs2241766 polymorphism and the DR risk. Conclusions: The current meta-analysis supports the association between the rs1501299 polymorphism of the ADIPOQ gene and the DR risk in patients with DM.

We aimed to explore the association of obesity and hypertension and further their association with AdipoQ gene polymorphism in North Indian postmenopausal women of Punjab.

Background and Aims: The present study was designed to investigate SNP rs17300539 in the ADIPOQ gene and its relationships with obesity, metabolic syndrome (MS), and serum circulating adiponectin. Methods: The present design involved a Caucasian population of 329 subjects with obesity. Anthropometric and adiposity parameters, blood pressure, biochemical parameters, and the percentage of patients with metabolic syndrome were recorded. The ADIPOQ gene variant (rs17300539) genotype was evaluated. Results: The percentage of patients with different genotypes of the rs17300539 polymorphism in this sample was 86.0% (n = 283) (GG), 11.2% (n = 37) (GA), and 2.7% (n = 9) (AA). The allele frequency was G (0.76) and A (0.24). Applying the dominant genetic model (GG vs. GA + AA), we reported differences between genotype GG and genotype GA + AA for serum adiponectin levels (Delta: 7.5 ± 1.4 ng/mL; p = 0.03), triglycerides (Delta: 41.1 ± 3.4 mg/dL; p = 0.01), fastingcirculating insulin (Delta: 4.9 ± 1.1 mUI/L; p = 0.02), and insulin resistance as HOMA-IR (Delta: 1.4 ± 0.1 units; p = 0.02). The remaining biochemical parameters were not related to the genotype of obese patients. The percentages of individuals with MS (OR = 2.07, 95% CI = 1.3–3.88; p = 0.01), hypertriglyceridaemia (OR = 2.66, 95% CI = 1.43–5.01; p = 0.01), and hyperglycaemia (OR = 3.31, 95% CI = 1.26–8.69; p = 0.02) were higher in GG subjects than patients with A allele. Logistic regression analysis reported an important risk of the presence of metabolic syndrome in GG subjects (OR = 1.99, 95% CI = 1.21–4.11; p = 0.02) after adjusting for adiponectin, dietary energy intakes, gender, weight, and age. Conclusions: The GG genotype of rs17300539 is associated with hypertriglyceridaemia, insulin resistance, low adiponectin levels, and a high risk of metabolic syndrome and its components. [ABSTRACT FROM AUTHOR]

The present study aimed to determine the association between the adiponectin gene (ADIPOQ gene) and coronary artery disease (CAD). Sixty individuals (40 patients and 20 healthy) were comprising in this study. The current results demonstrated significant relationship between TG genotype (22.5% ofCAD patients and 30% of healthy individuals) when compared with TT genotype. GG genotype was less common (12.5% and 15% of patients and control), as comparing with other genotypes. Also, there is no significant differences between GG genotype and TT genotype. There is no significant differences in allel frequencies between CAD patient and control group, while, T allel showed high frequency rate (76.25% and 70% in patients and control group respectively). Five mutations were determined within the studied region of the ADIPOQ gene using mutation surveyor program: 1 (20%) Deletion (g. 15324del C), 2 (40%) Transversion (g.15430G>T), 1 (20%) Transversion (g.15345A>C), 1 (20%) Transversion (g.15454T>A). In conclusion,the current study showed that rs2241766 polymorphisms affect in patients with coronary artery disease. [ABSTRACT FROM AUTHOR]

The traditional definition of gestational diabetes mellitus (GDM) is the leading cause of carbohydrate intolerance in hyperglycemia of varying severity, with onset or initial detection during pregnancy. Previous studies have reported a relationship among obesity, adiponectin (ADIPOQ), and diabetes in Saudi Arabia. ADIPOQ is an adipokine that is produced and secreted by adipose tissue involved in the regulation of carbohydrate and fatty acid metabolism. This study investigated the molecular association between rs1501299, rs17846866, and rs2241766 single-nucleotide polymorphisms (SNPs) in ADIPOQ and GDM in Saudi Arabia. Patients with GDM and control patients were selected, and serum and molecular analyses were performed. Statistical analyses were performed on clinical data, Hardy Weinberg Equilibrium, genotype and allele frequencies, multiple logistic regression, ANOVA, haplotype, linkage disequilibrium, as well as MDR and GMDR analyses. The clinical data showed significant differences in various parameters between the GDM and non-GDM groups (p < 0.05). In GDM women with alleles, genotypes, and different genetic models, the rs1501299 and rs2241766 SNPs showed a strong association (p < 0.05). Multiple logistic regression analysis revealed a negative correlation (p > 0.05). This study concluded that rs1501299 and rs2241766 SNPs were strongly associated with GDM in women in Saudi Arabia. [ABSTRACT FROM AUTHOR]

Adiponectin, also known as ADIPOQ, is a hormone protein secreted by adipocytes. The ADIPOQ gene is expressed primarily in adipose tissue, and the encoded protein circulates in the bloodstream and has the potential to regulate both animal fat metabolism and hormone production. Our previous work uncovered a 67-bp variable duplication in the promoter region of ADIPOQ, which reduced the basal transcriptional activity of ADIPOQ in the 3T3_L1 cell and also inhibits the ADIPOQ mRNA expression in adipose tissue. Accordingly, the present study aimed to identify the relationship between the 67-bp structural variations in ADIPOQ promoter region and the milk traits of Xinjiang brown cattle (XJBC). The results revealed two genotypes, DD and ID, in the XJBC, and minor allelic frequency (MAF) for the 'I' allele was more than 1%. Moreover, the association analysis revealed that the 67-bp duplication in the promoter region of the ADIPOQ gene was significantly correlated with the 305 days of milk production volume, fat yield, and milk fat percentage in the XJBC (p < 0.05). These results obtained in this study suggested that the identified variable duplication could be considered as the potential genetic marker for improving milk traits of XJBC. [ABSTRACT FROM AUTHOR]

Background: The ADIPOQ gene encodes a fat-derived protein hormone with a preponderant role in the homeostasis of glucose and fatty acids. However, previous association studies between ADIPOQ genetic variants and metabolic disorders have shown controversial results. In this study, we evaluated the effect of the ADIPOQ-rs2241766 polymorphism on diverse biochemical parameters (i.e., insulin resistance, atherogenic index, overweight and obesity) in an adolescent population from Mexico. Methods: A cross-sectional study with convenience sampling was carried out in 356 adolescents from Northern Mexico. They were classified by sex and BMI-z score. The biochemical parameters were measured from blood samples using conventional methods. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: In low and normal weight groups, GG carriers had a significantly higher cholesterol level (P < 0.05) than TG and TT carriers. However, there was no association between ADIPOQ-rs2241766 polymorphism and atherogenic index, overweight, or obesity. Conclusions: Our findings suggest that the cholesterol levels are under the influence of the ADIPOQ-rs2241766 polymorphism in Mexican adolescents and may explain how ADIPOQ variants increase the risk of developing metabolic disorders. Nevertheless, further studies are required to rule out the influence of other genetic and non-genetic factors. [ABSTRACT FROM AUTHOR]

Background: Till to date whether adiponectin AdipoQ gene variation (rs 1501299) is associated with cardiovascular disease, still remains controversial. Therefore, we aimed to relate the SNP (rs1501299) of adiponectin gene and oxidative stress in context to CVD in Punjabi women of North West India. Methods: In the present case-control study menopausal women with CVD as cases (n=265) and menopausal women without CVD as controls (n=258) were recruited. Genotyping of rs1501299 single nucleotide polymorphism of adiponectin gene was carried out by RFLP-PCR analysis. Biochemical parameters were analyzed according to the standard procedures. Results: Distribution of homozygous TT genotype of normolipidemic (p=0.001) and hyperlipidemic (p=0.001) women with CVD was significantly more frequent as compared to women without CVD. rs1501299 T allele carriers with CVD also showed significant (p=0.001) higher frequency distribution as compared to women without CVD. Under recessive model of inheritance TT mutant type homozygotes conferred 9 fold higher risk p=0.001; OR= 9.60 (2.92-31.58) towards CVD susceptibility for MDA>1.50; 11 fold higher risk p=0.007; OR= 11.11 (1.49-82.83) towards CVD for LDL carbonyl protein>15.04 and 9 fold higher risk p=0.001; OR= 9.75 (2.30-41.22) towards CVD susceptibility for SOD≤5.55. Under logistic regression analysis oxidative stress and TT genotype were significantly correlated with CVD. Conclusions: Our study revealed significant association of AdipoQ (rs1501299) gene polymorphism and oxidative stress with cardiovascular disease in Punjabi women of North West India. However, additional studies are required to support these findings.

Abstract Background A disturbance in eating behaviour (EB) is the hallmark of patients with eating disorders, and depicts a complex interaction of environmental, psychological and biological factors. In the present study, we propose a model of association of genetic susceptibility—represented by adiponectin (ADIPOQ) gene—with eating behavioural and psychological traits. Results Evaluation of the distribution of a polymorphism of the ADIPOQ (rs1501299 G > T) with respect to three EB factors involving cognitive restraint, uncontrolled eating and emotional eating revealed that T-allele in rs1501299 was associated with a decreased susceptibility to emotional EB in codominant (e.g., GG vs. TT) (beta-coefficient [β] = 2.39, 95% Confidence interval [CI] = − 4.02, − 0.76; p value [p] = 0.02), recessive (GG + GT vs. TT) (β = − 2.77, 95% CI = − 3.65, − 0.69; p = 0.005) and additive (GG = 0, GT = 1, TT = 2) (β = − 1.02, 95% CI = − 1.80, − 0.24; p = 0.01) models of inheritance. The presence of the T-allele was not significantly associated with psychological factors involving depression, anxiety and stress. Finally, none of the psychological traits significantly predicted any of the EB factors after controlling for age, body weight and gender. Conclusions Our data suggest that genetic variant in ADIPOQ locus may influence human emotional eating behaviour.

The traditional definition of gestational diabetes mellitus (GDM) is the leading cause of carbohydrate intolerance in hyperglycemia of varying severity, with onset or initial detection during pregnancy. Previous studies have reported a relationship among obesity, adiponectin (ADIPOQ), and diabetes in Saudi Arabia. ADIPOQ is an adipokine that is produced and secreted by adipose tissue involved in the regulation of carbohydrate and fatty acid metabolism. This study investigated the molecular association between rs1501299, rs17846866, and rs2241766 single-nucleotide polymorphisms (SNPs) in ADIPOQ and GDM in Saudi Arabia. Patients with GDM and control patients were selected, and serum and molecular analyses were performed. Statistical analyses were performed on clinical data, Hardy Weinberg Equilibrium, genotype and allele frequencies, multiple logistic regression, ANOVA, haplotype, linkage disequilibrium, as well as MDR and GMDR analyses. The clinical data showed significant differences in various parameters between the GDM and non-GDM groups (p < 0.05). In GDM women with alleles, genotypes, and different genetic models, the rs1501299 and rs2241766 SNPs showed a strong association (p < 0.05). Multiple logistic regression analysis revealed a negative correlation (p > 0.05). This study concluded that rs1501299 and rs2241766 SNPs were strongly associated with GDM in women in Saudi Arabia.

OBJECTIVE: Single nucleotide variants (SNVs) of ADIPOQ gene on different comorbidities are related to obesity and weight loss. Despite, there are no studies evaluating the effect of rs3774261 on metabolic variables after bariatric surgery. We evaluated the effect of SNV rs3774261 of ADIPOQ gene on biochemical changes after biliopancreatic diversion surgery in morbidly obese subjects for 3 years follow-up. PATIENTS AND METHODS: One hundred and forty-nine patients (111 females/38 males) with morbid obesity (body mass index >40 kg/ m2) without diabetes mellitus type 2 were enrolled. Biochemical and anthropometric evaluation were registered before and after 1, 2, and 3 years. Genotype of rs3774261 has been studied. RESULTS: Total cholesterol, LDL-cholesterol and triglyceride levels decreased in all genotype groups during the study. Although the improvement in glucose, insulin and HOMA-IR was significant in two genotypes (AA and AG); these changes were earlier in the AA genotype than in Ag and GG genotypes. Adiponectin levels increased in a significant way in subjects with AA genotype in the 3 follow-up periods (first year delta: 16.4±0.5 ng/ml; p=0.03, second year delta: 21.3±0.5 ng/ mL; p=0.02 and third year delta: 23.6±0.7 ng/mL; p=0.01) and at 3 years in subjects with AG genotype (delta: 18.3±0.4 ng/ mL; p=0.03). The ratio adiponectin/leptin increased in a significant way in subjects with AA genotype in the 3 follow-up times (first year delta: 0.40±0.1 units; p=0.02, second year delta: 0.58±0.1 units; p=0.01 and third year delta: 0.65±0.1 ng/mL; p=0.01) and at 3 years in subjects with AG genotype (delta: 0.61±0.1 ng/ mL; p=0.02). Subjects with GG genotype did not show a significant improvement in these parameters during the follow- up. CONCLUSIONS: G allele carriers of rs3774261 showed a delay in the improvement of glucose metabolism parameters, adiponectin and adiponectin/ leptin ratio. [ABSTRACT FROM AUTHOR]

Diabetes is currently a growing concern of the age. Prevention and treatment of diabetes is a global health priority. Adiponectin is an adipocyte derived protein hormone that enhances insulin sensitivity and ameliorates diabetes by enhancing fatty acid oxidation and glucose uptake in skeletal muscle and reducing glucose production in the liver. Low serum adiponectin concentrations are associated with diabetes, central obesity, insulin resistance and metabolic syndrome. Adiponectin gene is located on chromosome 3q27, where a locus of susceptibility to diabetes was mapped. Several cross-sectional studies showed that single nucleotide polymorphisms (SNPs) in adiponectin gene (ADIPOQ) were associated with diabetes. SNPs in ADIPOQ help in assessing the association of common variants with levels of adiponectin and the risk of diabetes. Two common SNPs, rs2241766 and rs1501299, have been linked significantly to type 1 diabetes mellitus which endow the world with a block of haplotypes. Experimental evidences also suggest that rs1501299, rs2241766, rs266729, rs17366743, rs17300539, rs182052, rs822396, rs17846866, rs3774261 and rs822393 are significantly associated with type 2 diabetes mellitus which is the predominant form of the disease. In addition, rs2241766 and rs266729 are extensively associated with gestational diabetes, a condition that develops in women during pregnancy. Therefore not a particular single mutation but a number of SNPs in adiponectin gene could be a risk factor for developing diabetes among the individuals worldwide. This study firmly suggests that adiponectin plays a crucial role in the pathogenesis of type 1, type 2 and gestational diabetes mellitus.

The ADIPOQ and EDG1 genes were responsible in intramuscular fat deposition and marbling scores. This study was aimed to identify polymorphism of indel g.81966364D>I in promoter region of ADIPOQ gene and SNP c.-312A>G in 5' UTR of EDG1 gene in Indonesian beef cattle. Blood samples were collected from 211 cattle, including Bali (44), Madura (20), Pesisir (18), Katingan (20), PO (22), Pasundan (20), SO (12), Brahman (20), Simmental (15) and Limousin (18). Polymorphism of ADIPOQ gene was analyzed using PCR and direct sequencingmethods, whereas EDG1 gene was analyzed using PCR-RFLP (MscI enzyme) and direct sequencingmethods. Results of genotyping indel g.81966364D>I was monomorphic (DD genotype). The SNP c.-312A>G was polymorphic (AA and AG genotype) in Madura, Pesisir, Pasundan, Brahman, and Limousine. The Frequencies of allele A and G were 0.95, 0.92, 0.98, 0.95, 0.94 and 0.05, 0.08, 0.02, 0.05, 0.06 respectively. The values of Ho and He were 0.05-0.17 and 0.05-0.15 respectively and in Hardy-Weinberg equilibrium (P>0.05). In Bali, Katingan, PO, SO and Simmental were monomorphic (GG genotype). In Bali cattle, two novel SNP candidates were found in position of c.-399C>T and c.-273C>G which were potential to be used as genetic markers of marbling score for Bali cattle. As result this study, it can be concluded that ADIPOQ gene was similar while EDG1 gene was different in Indonesian beef cattle. in addition, found two candidates potential SNP in Bali cattle.

Abstract Genes can influence lipid profile and anthropometric variables related to obesity. The present study aimed to verify if variants of the APOE, APOB, ADIPOQ, HSD11β1, and PLIN4 genes are associated with lipid levels or anthropometric variables in a sample comprised of 393 Euro-Brazilian children and adolescents. DNA was genotyped by TaqMan allelic discrimination assay. The ε4 and ε2 alleles of the APOE gene were associated respectively with lower high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C) levels (p=0.015 and p=0.012, respectively), while the ε3 allele was associated with higher abdominal circumference (p=0.0416) and excess weight (p=0.0001). The G allele (rs846910) of the HSD11β1 gene was also associated with excess weight (p=0.039). No other association was found. Our results indicate that the ε4 and ε2 alleles could contribute to lower HDL-C and LDL-C levels, respectively, furthermore, the ε3 allele and the G allele (rs846910) of HSD11β1 gene may be risk factors for excess of weight.These findings are very important because we observed that some genetic variants influence the lipid profile and anthropometric variables early in life.

Background: A disturbance in eating behaviour (EB) is the hallmark of patients with eating disorders, and depicts a complex interaction of environmental, psychological and biological factors. In the present study, we propose a model of association of genetic susceptibility—represented by adiponectin (ADIPOQ) gene—with eating behavioural and psychological traits. Results: Evaluation of the distribution of a polymorphism of the ADIPOQ (rs1501299 G > T) with respect to three EB factors involving cognitive restraint, uncontrolled eating and emotional eating revealed that T-allele in rs1501299 was associated with a decreased susceptibility to emotional EB in codominant (e.g., GG vs. TT) (beta-coefficient [β] = 2.39, 95% Confidence interval [CI] = − 4.02, − 0.76; p value [p] = 0.02), recessive (GG + GT vs. TT) (β = − 2.77, 95% CI = − 3.65, − 0.69; p = 0.005) and additive (GG = 0, GT = 1, TT = 2) (β = − 1.02, 95% CI = − 1.80, − 0.24; p = 0.01) models of inheritance. The presence of the T-allele was not significantly associated with psychological factors involving depression, anxiety and stress. Finally, none of the psychological traits significantly predicted any of the EB factors after controlling for age, body weight and gender. Conclusions: Our data suggest that genetic variant in ADIPOQ locus may influence human emotional eating behaviour. [ABSTRACT FROM AUTHOR]

BACKGROUND: Human immunodeficiency virus and injection substance use have an influence on genes and gene expression. These effects could be beneficial or detrimental in defining disease outcomes. Adiponectin gene is key in modulating metabolic and immunoregulatory functions. Understanding the effects of human immunodeficiency virus and injection substance use on the gene in the context of antiretroviral therapy is important for predicting disease outcomes. METHODS: This cross-sectional genetic study determined polymorphisms in the promoter region of adiponectin gene. Two variants were analyzed: rs2241766 and rs266729. Polymorphisms were associated with clinical markers of disease outcome; underweight, immunosuppression and viral suppression. The variants were genotyped via random fragment length polymorphism. RESULTS: GC haplotype was associated with higher odds of having underweight (OR, 2.21; 95% CI, 1.83-4.60; P=0.008 vs. OR, 2.30; 95% CI, 1.89-4.71; P=0.006) in antiretroviral treatment - naive and experienced injection substance users and immunosuppression (OR, 1.90; 95% CI 1.67-3.98, P=0.041) in naive. Bonferroni correction revealed GC haplotype carriers only to have low body mass index in both naive (median, 14.8; IQR, 3.2 kg/m2; P<0.002) and experienced (median, 15.2; IQR, 3.2 kg/m2; P<0.002) injection substance users. Circulating total adiponectin levels were higher in naive (median, 19.5; IQR, 7.9 µg/ml) than - experienced (median, 12.0; IQR, 4.4 µg/ml) injection substance users (P<0.0001). GC carriers presented with low serum adiponectin levels in both study groups. CONCLUSION: The study revealed haplotypes of adiponectin gene at loci rs2241766 and rs266729 that could determine disease outcomes in human immunodeficiency virus -1 antiretroviral treatment- naive and experienced injection substance users. [ABSTRACT FROM AUTHOR]

Context: Polycystic ovary syndrome has always been an enigma, and it still continues to be. In addition to an ovulatory subfertility, women with PCOS show an increased danger of pregnancy complications, obesity, so the effect of this issue isn’t simply constrained to reproductive age, however all through life. A total of (128) samples (50 normal Weight and 78 obese groups) . Those samples was collected from the Kamal Al-Samarraie hospital, Ministry-of Health in Baghdad-Iraq from April 2017- August 2017. The aim of this present study to was to detect association from polymorphism ADIPOQ gene (rs12495941) with risk of Polycystic ovary syndrome for Iraqi women patients and compare between ADIPOQ gene of Iraq population with gene bank of NCBI . Examine Interleukin-18(IL-18), Tumor necrosis factor alpha (TNF-α) of Polycystic ovary syndrome Iraqi women patients. TNF-α, and IL-18 showed significantly change(p<0.05) in Obese with PCOS and low weight with PCOS groups when comparing with control group. followed by no-significant change (p>0.05)when comparing between Obese without PCOS and low weight with PCOS groups,also shows significant change(p<0.05)when comparing between low weight with PCOS and control group.The results show substitution three Transition A>G and G>A, six Transversion T>G, T>A, and C>A, showed 98% identified with a standard in Gene Bank from patients group while having 100% identified with a standard in Gene Bank with the control group. [ABSTRACT FROM AUTHOR]

Background: Adiponectin (ADIPOQ) is a hormone primarily synthesized by adipocytes and encoded by the ADIPOQ gene, which exerts anti-inflammatory, antiatheratogenic and insulin sensitizing functions. It has been shown that its plasma concentrations are decreased in individuals with metabolic syndrome (MS) and type 2 diabetes mellitus (DM2), which could be due to variations in the gene coding for this protein. The aim of this study was to detect the +45 T>G polymorphism of the ADIPOQ gene in subjects with DM2 and MS in Maracaibo municipality, Zulia state, Venezuela. Methods: A total of 90 subjects who attended the Center for Metabolic Endocrine Research 'Dr. Félix Gómez' were enrolled for this study, 46 of which had MS-DM2 and 44 of which were healthy control individuals. Genomic DNA was extracted from blood samples and PCR-restriction fragment length polymorphism analysis was carried out for the promoter region of the ADIPOQ gene. Likewise, the +45 T> G polymorphism was identified and correlated with MS and DM2 in the studied population. Results: The most frequent allele in both groups was the T allele, and the predominant genotype was homozygous T/T (79%). Genotypes with heterozygous T/G and G/G homozygous polymorphism were more frequent in the control group than in the MS-DM2 group. Regarding the individuals with T/G and G/G genotypes, statistically significant lower mean values ​​were found for fasting glucose, total cholesterol, triacylglycerides, abdominal circumference, and for the medians of systolic and diastolic blood pressure. Odds ratio were calculated for the presence or absence of MS and DM2. Conclusions: The results suggested that the presence of the G allele exerts a protective effect on the carrier individuals, thus avoiding the appearance of the aforementioned metabolic alterations.

Single nucleotide polymorphisms (SNPs) in obesity-related genes, such as ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) and adiponectin (ADIPOQ), potentially increase the risk of insulin resistance, the most common metabolic dysregulation related to obesity. We investigated the association of ENPP1 SNP K121Q (rs1044498) with insulin resistance and ADIPOQ SNP + 267G > T (rs1501299) with circulating adiponectin levels in a case–control study involving 55 obese and 55 lean Javanese people residing in Yogyakarta, Indonesia. Allele frequency was determined by a chi squared test or Fisher’s exact test with an expected value less than 0.05. Odds ratios and 95% confidence intervals were estimated by regression logistic analysis. The presence of the Q121 allele of ENPP1 resulted in significantly higher fasting glucose, fasting insulin levels, and HOMA-IR, as compared to homozygous K121 carriers. The risk of insulin resistance was elevated in obese individuals carrying Q121 instead of homozygous K121. Adiponectin level was significantly lower in the obese group as compared to the lean group. Obese individuals carrying homozygous protective alleles (TT) of ADIPOQ tended to have lower adiponectin levels as compared to GT and GG carriers, however, we did not find statistically significant effects of the +276G > T SNP of the ADIPOQ gene on the plasma adiponectin levels or on the development of obesity.

The ADIPOQ and EDG1 genes were responsible in intramuscular fat deposition and marbling scores. This study was aimed to identify polymorphism of indel g.81966364D>I in promoter region of ADIPOQ gene and SNP c.-312A>G in 5' UTR of EDG1 gene in Indonesian beef cattle. Blood samples were collected from 211 cattle, including Bali (44), Madura (20), Pesisir (18), Katingan (20), PO (22), Pasundan (20), SO (12), Brahman (20), Simmental (15) and Limousin (18). Polymorphism of ADIPOQ gene was analyzed using PCR and direct sequencing methods, whereas EDG1 gene was analyzed using PCR-RFLP (MscI enzyme) and direct sequencing methods. Results of genotyping indel g.81966364D>I was monomorphic (DD genotype). The SNP c.-312A>G was polymorphic (AA and AG genotype) in Madura, Pesisir, Pasundan, Brahman, and Limousine. The Frequencies of allele A and G were 0.95, 0.92, 0.98, 0.95, 0.94 and 0.05, 0.08, 0.02, 0.05, 0.06 respectively. The values of Ho and He were 0.05-0.17 and 0.05-0.15 respectively and in Hardy-Weinberg equilibrium (P>0.05). In Bali, Katingan, PO, SO and Simmental were monomorphic (GG genotype). In Bali cattle, two novel SNP candidates were found in position of c.-399C>T and c.-273C>G which were potential to be used as genetic markers of marbling score for Bali cattle. As result this study, it can be concluded that ADIPOQ gene was similar while EDG1 gene was different in Indonesian beef cattle. in addition, found two candidates potential SNP in Bali cattle. [ABSTRACT FROM AUTHOR]

Among genetic variants of the ADIPOQ gene +276 G>T (rs1501299) and -11377 G>C (rs266729) are the most frequently investigated polymorphisms which were described in the context of genetic conditioning for a predisposition to obesity. However, the information of polymorphisms' potential modifying effect on obesity-related traits achieved through training procedures are still unknown. DNA was extracted from buccal cells donated by the 201 participants and genotyping was carried out using real-time PCR. The genotype distribution was examined in a group of women measured for chosen traits before and after the completion of a 12-week training programme. Our results suggest that the ADIPOQ genotypes analyzed individually or in combination can modulate training-induced body mass measurements changes: after the training programme, carriers of rs1501299 T allele and rs266729 C allele were characterized by a greater reduction in fat mass percentage (FM), fat mass, and body mass. Moreover, the ADIPOQ polymorphisms were associated with changes in lipid profile in response to training. Additionally, we showed three main effects of genotypes for the FM, LDL-C (rs266729), and TBW (rs1501299). Our study indicate that the both polymorphisms are associated with changes in obesity-related traits in response to 12-week aerobic training programme in Caucasian women. From this evidence, it could be concluded that rs1501299 G and rs266728 G variants may be considered as disadvantageous factor in the context of training-induced effects on body mass traits. [ABSTRACT FROM AUTHOR]

As an adipose tissue-specific protein, adiponectin has been suggested as a protective factor for stroke, acting through anti-inflammatory and antiatherogenic effects. Therefore, we aimed to investigate whether 3 polymorphisms (rs1501299, rs2241767, and rs3774261) in the adiponectin (ADIPOQ) gene and their haplotypes were associated with ischemic stroke (IS) and its subtypes in a Chinese population. ADIPOQ gene rs1501299, rs2241767, and rs3774261 polymorphisms were analyzed in 385 IS patients, including 182 patients with large-artery atherosclerosis (LAA), 203 patients with small-vessel occlusion (SVO), and 418 matched controls. The subjects were genotyped by using polymerase chain reaction-restriction fragment length polymorphism analysis. In univariate logistic analysis, the A allele frequency of rs2241767 was moderately higher in IS and LAA patients than that in controls (P = .028 and P = .017, respectively). Compared with the wide-type AA homozygote, both the genotype GG and the dominant model (GG+AG) of rs2241767 moderately increased the risk of LAA (P = .040 and P = .034, respectively). In multivariate logistic regression analysis, the genotype GG of rs2241767 was independently related to IS and LAA patients (adjusted, odds ratio [OR] = 1.822, 95% confidence interval [CI]: 1.037-3.202, P = .037 and OR = 2.051, 95% CI: 1.041-4.041, P = .038, respectively) rather than SVO. In contrast, no relationship was observed between the polymorphism of rs1501299 and rs3774261 and either subtype of IS using both univariate and multivariate logistic regression analyses. In addition, the Trs1501299-Grs2241767-Ars3774261 haplotype showed a moderately increased risk of IS and LAA (OR = 1.595, 95% CI: 1.058-2.406, P = .025 and OR = 1.709, 95% CI: 1.047-2.789, P = .031, respectively) but not of SVO. In conclusion, this study tentatively demonstrated that the polymorphism of rs2241767 and the Trs1501299-Grs2241767-Ars3774261 haplotype were associated with susceptibility to IS and LAA in a Chinese population. [ABSTRACT FROM AUTHOR]

Litter size is one of the most important economic traits for pig production as it is directly related to production efficiency. To evaluate the effects of the adiponectin (ADIPOQ) gene on porcine litter size, we investigated ADIPOQ polymorphisms in three breeds, Wannan Black pigs, Berkshire pigs, and BW pigs (crossbred pigs produced from mating male Berkshire pigs and female Wannan Black pigs), using the PCR-SSCP method. Three SNPs (c. 178G > A, c. 1165A > G, and c. 1138G > A) were identified. In Wannan Black pigs, association analysis indicated that the c. 178G > A SNP genotype was significantly associated with an effect on total number born (TNB; P < 0.05) and the number born alive (NBA; P < 0.05) in primiparity. The c.1138G > A SNP was significantly associated with an effect on TNB (P < 0.05) and NBA (P < 0.05) in primiparity and multiparity. In addition, three of the nine possible genotype combinations, AACC, AACD, and AGCD, were found. AGCD resulted in primiparous and multiparous sows with the highest TNB. These results indicated that polymorphisms in the ADIPOQ gene could be used for marker-assisted selection programs for the genetic improvement of reproductive characteristics in pigs. [ABSTRACT FROM AUTHOR]

Background: African Americans experience disproportionately higher prevalence of type 2 diabetes and related risk factors. Little research has been done on the association of ADIPOQ gene on type 2 diabetes, plasma adiponectin, blood glucose, HOMA-IR and body mass index (BMI) in African Americans. The objective of our research was to assess such associations with selected SNPs. The study included a sample of 3,020 men and women from the Jackson Heart Study who had ADIPOQ genotyping information. Unadjusted and adjusted regression models with covariates were used with type 2 diabetes and related phenotypes as the outcome stratified by sex. Results: There was no association between selected ADIPOQ SNPs with type 2 diabetes, blood glucose, or BMI in men or women. There was a significant association between variant rs16861205 and lower adiponectin in women with minor allele A in the fully adjusted model (β(SE) p = -.13(0.05), 0.003). There was also a significant association with variant rs7627128 and lower HOMA-IR among men with minor allele A in the fully adjusted model (β(SE) p = -0.74(0.20), 0.0002). Conclusions: These findings represent new insights regarding the association of ADIPOQ gene and type 2 diabetes and related phenotypes in African American men and women. [ABSTRACT FROM AUTHOR]

The article presents a study to evaluate the influence of polymorphisms of the adipose gene transcript-1, adiponectin (ADIPOQ) gene on the lipid metabolism and pre-eclampsia in Chinese Han women of pregnancy. It informs that the study performed polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) was used to genotype ADIPOQ genes. The result showed three polymorphic sites on ADIPOQ gene were not the genetic determinants of susceptibility to pre-eclampsia.

Adiponectin modulates lipid and glucose metabolism in adipose tissues and is also related to bone metabolism. Polymorphisms in the ADIPOQ gene likely have an impact on growth traits in cattle. In this study, we examined the relationship between ADIPOQ polymorphisms and body measurement parameters in Chinese beef cattle. First, we sequenced ADIPOQ and 1.2 kb of DNA upstream of its promoter, and we found 14 polymorphisms. With the luciferase reporter assay, we showed that the two polymorphisms SNP PR_-135 A>G and PR_-68 G>C, which are located in the core region of promoter, influence promoter activity of ADIPOQ. Second, we identified three haplotypes involved in these two polymorphic sites: A (A-135/C-68), B (A-135/G-68), and C (G-135/G-68). Haplotypes B and C are major haplotypes in five Chinese populations of cattle (Qinchuan, Nanyang, Jiaxian, Hazakh, and Chinese Holstein). We studied the effects of these three haplotypes on body measurements, gene expression, and promoter activity, and we found that the genotypes are associated with body measurement parameters in Qinchuan cattle. Individuals with genotype BC (AG/GG) had significantly higher body height and heart girth than others, and this result may be interpreted by the following two observations. The promoter activity with haplotype B (A/G) is significantly higher than those with A (A/C) and C (G/G) in driving reporter gene transcription; the ADIPOQ mRNA level in cattle with genotype BC (AG/GG) is relatively lower than that in cattle with genotype BB (AA/GG). [ABSTRACT FROM AUTHOR]

Abstract: The results of studies investigating the association between ADIPOQ gene polymorphisms and risk of cancer have been inconsistent and often contradictory. The present meta-analysis was conducted in order to overcome the limitations of any individual study and to provide a more precise overall effect estimate. Relevant studies were identified by searching PubMed and Embase for articles published through May 2012. The strength of the relationship between the ADIPOQ gene and risk of cancer was assessed using odds ratios (ORs). Either a fixed-effects or a random-effects model was used to calculate the overall risk estimates. Fifteen studies were included and five SNPs were considered. A significant association was found between SNP rs2241766 and risk of cancer in the recessive genetic model (OR: 0.768, 95% CI: [0.626,0.942], P =0.011); a significant relationship was also found between SNP rs1501299 and risk of cancer in both an allele contrast (OR: 0.141, 95%CI: [0.113,0.176], P <0.001) and the dominant genetic model (OR: 0.904, 95%CI: [0.830,0.985], P =0.021); no association was found with the rs266729, rs822395, or rs822396 SNPs. Adjusted ORs were also considered, but no statistically significant association was found in homozygote contrasts for any of the five SNPs after adjustment. Our results suggest that two polymorphisms, SNP rs2241766 and SNP rs1501299, of the ADIPOQ gene may be associated with reduced risk of cancer. However, the overall strength of association is mild to moderate, and additional well-designed studies are needed to confirm the present conclusion. [Copyright &y& Elsevier]

Abstract: Polycystic ovary syndrome (PCOS) is one of the most common female endocrine disorders. The aim of this study was to investigate possible associations between 45T/G and 276G/T variants of the ADIPOQ gene and susceptibility to PCOS. A meta-analysis of 11 published case–control studies on the 45T/G variant of the ADIPOQ gene (involving a total of 1176 patients with PCOS and 1759 controls) and eight published case–control studies on the 276G/T variant of the ADIPOQ gene (involving a total of 895 patients with PCOS and 1024 controls) was performed. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of associations. The comparison of G vs. T in ADIPOQ 45T/G showed significant differential susceptibility to PCOS (OR=1.397, 95% CI 1.156–1.689). A significant association was also found between PCOS susceptibility and the comparison of G vs. T in ADIPOQ 276G/T (OR 0.812, 95% CI 0.704–0.937). However, protective effects were found in both sites under the co-dominant model for Caucasians. Further studies are warranted to assess these associations in greater detail, especially in Asian populations. [Copyright &y& Elsevier]

This study was to evaluate the association between ADIPOQ gene variants and type 2 diabetes mellitus (T2DM). TaqMan assay was performed to test the genotypes in T2DM patients ( n = 1,105) and normal control subjects ( n = 1,107). Serum adiponectin concentration was measured by ELISA kit. The variant genotypes rs7649121AT and rs7649121AT/TT, compared with the AA genotype, were associated with a significantly decreased risk of T2DM [Adjusted OR (95% CI) = 0.79(0.66-0.95), 0.80(0.67-0.96), respectively]. In stratified analysis, rs2241767AG genotype increased the risk of T2DM in obesity group [Adjusted OR (95% CI) = 1.32(1.03-1.69)]. Patients with genotype AG/GG of rs2241767 had lower levels of serum adiponectin than those with the genotype AA ( P = 0.044). Haplotype analyses were not significant. Crossover analysis of rs7649121 and environmental risk factor (obesity) indicated that the protect effect of rs7649121AT/TT maybe offset by the environmental risk. Those who exposed to environmental risk factor (obesity) had a chance to attack T2DM compared with those who did not expose to the two factors [Adjusted OR (95% CI) = 1.64(1.30-2.06)]. This study suggested that the ADIPOQ gene polymorphisms were associated with the risk of T2DM in a Chinese Han population. [ABSTRACT FROM AUTHOR]

Abstract: The Adiponectin (ADIPOQ) gene encodes adipose tissue-secreted hormone, Adiponectin, which is secreted to the bloodstream by adipocytes. Adiponectin is a hormone with anti-inflammatory and anti-atherogenic properties and plays a significant role in insulin sensitivity and obesity. The genetic variations in ADIPOQ gene change the circulating adiponectin level and may cause insulin resistance. The aim of the present study is to evaluate the frequency of a common single nucleotide polymorphism (SNP) of ADIPOQ gene (+45T/G) and adiponectin receptor-2 (ADIPOR2) gene (+795G/A) in Iranian population and to correlate these data with other populations. A hundred healthy volunteers were enrolled to identify the genotype of ADIPOQ gene (+45T/G) and ADIPOR2 gene (+795G/A). This was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Genotype frequencies for ADIPOQ (+45T/G) were 0.789 for TT, 0.164 for TG, and 0.0468 for GG. Allelic frequencies were 0.87 and 0.13 for T and G, respectively. Genotype frequencies for ADIPOR2 (+795G/A) were 0.09 for AA, 0.3 for AG, and 0.61 for GG; allelic frequencies were 0.24 for A and 0.76 for G. Comparisons between ADIPOQ and ADIPOR2 polymorphisms in Iranian population with those in other populations showed significant differences. [Copyright &y& Elsevier]

ims/hypothesis: Insulin resistance is associated with reduced serum adiponectin and increased albuminuria levels. Thus, one would anticipate an inverse relationship between circulating adiponectin and albuminuria. However, several studies have described a 'paradoxical' elevation of serum adiponectin in patients with elevated albuminuria. These findings may have been confounded by the presence of diseases and related treatments known to affect circulating adiponectin and albuminuria. We therefore studied the relationship between circulating adiponectin and albuminuria in the absence of such confounders. Methods: To this purpose, the relationship between adiponectin isoforms and albumin:creatinine ratio (ACR) was investigated in a family-based sample of 634 non-diabetic untreated white individuals with normal kidney function. We also investigated whether the two variables share a common genetic background and addressed the specific role of the gene encoding adiponectin on that background by genotyping several ADIPOQ single nucleotide polymorphisms (SNPs). Results: ACR was directly associated with high molecular weight (HMW) adiponectin isoform ( p = 0.024). The two variables shared some genetic correlation (ρ = 0.38, p = 0.04). ADIPOQ promoter SNP rs17300539 was associated with HMW adiponectin ( p = 4.8 × 10) and ACR ( p = 0.0027). The genetic correlation between HMW adiponectin and ACR was no longer significant when SNP rs17300539 was added to the model, thus reinforcing the role of this SNP in determining both traits. Conclusions/interpretation: Our study shows a positive, independent correlation between HWM adiponectin and ACR. ADIPOQ variability is associated with HMW adiponectin and ACR, and explains some of the common genetic background shared by these traits, thus suggesting that ADIPOQ and HMW adiponectin modulate albuminuria levels. [ABSTRACT FROM AUTHOR]

diponectin is inversely associated with the risk of ischemic stroke through its anti-inflammatory and anti-atherogenic effects. Genetic variations in the adiponectin gene (ADIPOQ) have been shown to be associated with the risk of ischemic stroke in Caucasians and Japanese populations. However, it was unknown whether variations in the ADIPOQ gene were associated with the risk of ischemic stroke in Chinese population. A case-control study was performed among 302 patients with ischemic stroke and 338 unrelated controls in a Chinese Han population. The single-nucleotide polymorphisms (SNPs) rs266729 (−11377C/G), rs2241766 (+45T/G), rs1501299 (+276G/T) in the ADIPOQ gene were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The frequencies of GG genotype and G allele of rs266729 in the patients with ischemic stroke were significantly higher than those in the controls ( P = 0.034, P = 0.010, respectively). In univariate logistic analysis, compared with CC genotype, GG genotype of rs266729 increased the risk of ischemic stroke (odds ratio (OR) = 2.062, 95% confidence interval (CI) = 1.145-3.715, P = 0.016). After adjustment for potential risk factors by the multivariate logistic analysis, rs266729 remained positive correlation with ischemic stroke (OR = 2.165; 95% CI = 1.116-4.197, P = 0.022). However, no significant association was observed among rs2241766, rs1501299 and ischemic stroke. In addition, no significant difference was found in haplotype frequencies between the patients with ischemic stroke and control subjects. The present study demonstrated that the promoter polymorphism rs266729 of the ADIPOQ gene was associated with an increased risk of ischemic stroke in the Chinese Han population. [ABSTRACT FROM AUTHOR]

Menzaghi C, Salvemini L, Paroni G, De Bonis C, Mangiacotti D, Fini G, Doria A, Di Paola R, Trischitta V (IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo (FG), Italy, Joslin Diabetes Center and Harvard Medical School, Boston, MA, USA, “Sapienza” University; IRCCS Casa Sollievo della Sofferenza-Mendel Institute, Rome, Italy). Circulating HMW adiponectin isoform is heritable and shares a common genetic background with insulin resistance in nondiabetic White Caucasians from Italy: evidence from a family-based study. J Intern Med 2010; 267: 287–294. Objective. Reduced circulating adiponectin levels contribute to the aetiology of insulin resistance. Adiponectin circulates in three different isoforms: high molecular weight (HMW), medium molecular weight (MMW) and low molecular weight (LMW) isoforms. The genetics of adiponectin isoforms is mostly unknown. Our aim was to investigate whether and to which extent circulating adiponectin isoforms are heritable and whether they share common genetic backgrounds with insulin resistance-related traits. Methods. In a family-based sample of 640 nondiabetic White Caucasians from Italy, serum adiponectin isoforms concentrations were measured by ELISA. Three single nucleotide polymorphisms (SNPs) in the ADIPOQ gene previously reported to affect total adiponectin levels (rs17300539, rs1501299 and rs677395) were genotyped. The heritability of adiponectin isoform levels was assessed by variance component analysis. A linear mixed effects model was used to test the association between SNPs and adiponectin isoforms. Bivariate analyses were conducted to study genetic correlations between adiponectin isoforms levels and other insulin resistance-related traits. Results. All isoforms were highly heritable (h2 = 0.60–0.80, P = 1.0 × 10−13–1.0 × 10−23). SNPs rs17300539, rs1501299 and rs6773957 explained a significant proportion of HMW variance (2–9%, P = 1.0 × 10−3–1.0 × 10−5). In a multiple-SNP model, only rs17300539 and rs1501299 remained associated with HMW adiponectin ( P = 3.0 × 10−4 and 2.0 × 10−2). Significant genetic correlations ( P = 1.0 × 10−2–1.0 × 10−5) were observed between HMW adiponectin and fasting insulin, homeostasis model assessment of insulin resistance, HDL cholesterol and the metabolic syndrome score. Only rs1501299 partly accounted for these genetic correlations. Conclusion. Circulating levels of adiponectin isoforms are highly heritable. The genetic control of HMW adiponectin is shared in part with insulin resistance-related traits and involves, but is not limited to, the ADIPOQ locus. [ABSTRACT FROM AUTHOR]

Abstract: Aim: The objective of this study is to assess the contribution of ADIPOQ variants to type 2 diabetes in Japanese Brazilians. Methods: We genotyped 200 patients with diabetes mellitus (100 male and 100 female, aged 55.0 years [47.5–64.0 years]) and 200 control subjects with normal glucose tolerant (NGT) (72 male and 128 female, aged 52.0 years [43.5–64.5 years]). Results: Whereas each polymorphism studied (T45G, G276T, and A349G) was not significantly associated with type 2 diabetes mellitus, the haplotype GGA was overrepresented in our diabetic population (9.3% against 3.1% in NGT individuals, P=.0003). Also, this haplotype was associated with decreased levels of adiponectin. We also identified three mutations in exon 3: I164T, R221S, and H241P, but, owing to the low frequencies of them, associations with type 2 diabetes could not be evaluated. The subjects carrying the R221S mutation had plasma adiponectin levels lower than those without the mutation (2.10 μg/ml [1.35–2.55 μg/ml] vs. 6.68 μg/ml [3.90–11.23 μg/ml], P=.015). Similarly, the I164T mutation carriers had mean plasma adiponectin levels lower than those noncarriers (3.73 μg/ml [3.10–4.35 μg/ml] vs. 6.68 μg/ml [3.90–11.23 μg/ml]), but this difference was not significant (P=.17). Conclusions: We identified in the ADIPOQ gene a risk haplotype for type 2 diabetes in the Japanese Brazilian population. [Copyright &y& Elsevier]

Aims: The ADIPOQ gene encodes the protein adiponectin, and decreased circulating adiponectin levels have been observed in cardiovascular disease. We investigated the role of the ADIPOQ gene single-nucleotide polymorphisms (SNPs) A-11426G, G-11391A, C-11377G, and T45G with plasma adiponectin levels and common carotid artery intima media thickness (IMT) in a cohort of healthy subjects participating in the RISC (Relationship between Insulin Sensitivity and Cardiovascular disease) study. [ABSTRACT FROM PUBLISHER]

Single nucleotide polymorphisms (SNPs) in obesity-related genes, such as ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) and adiponectin (ADIPOQ), potentially increase the risk of insulin resistance, the most common metabolic dysregulation related to obesity. We investigated the association of ENPP1 SNP K121Q (rs1044498) with insulin resistance and ADIPOQ SNP + 267G > T (rs1501299) with circulating adiponectin levels in a case–control study involving 55 obese and 55 lean Javanese people residing in Yogyakarta, Indonesia. Allele frequency was determined by a chi squared test or Fisher's exact test with an expected value less than 0.05. Odds ratios and 95% confidence intervals were estimated by regression logistic analysis. The presence of the Q121 allele of ENPP1 resulted in significantly higher fasting glucose, fasting insulin levels, and HOMA-IR, as compared to homozygous K121 carriers. The risk of insulin resistance was elevated in obese individuals carrying Q121 instead of homozygous K121. Adiponectin level was significantly lower in the obese group as compared to the lean group. Obese individuals carrying homozygous protective alleles (TT) of ADIPOQ tended to have lower adiponectin levels as compared to GT and GG carriers, however, we did not find statistically significant effects of the +276G > T SNP of the ADIPOQ gene on the plasma adiponectin levels or on the development of obesity. [ABSTRACT FROM AUTHOR]