Arginine 16 Glycine Polymorphism in ß2-Adrenergic Receptor Gene is Associated with Obesity, Hyperlipidemia, Hyperleptinemia, and Insulin Resistance in Saudis.

Background. Several studies have shown an association between codon 16 polymorphism of the ß2AR gene and obesity. Methods. We studied the association between Arg16Gly polymorphism and obesity and its influence on anthropometric parameters, lipids, insulin resistance and leptin in Saudi individuals. The study group included 329 individuals (males: 109 and females: 220). Metabolic parameters, including glucose, lipids, insulin, and leptin were analyzed and anthropometric parameters including waist and hip circumference, waist/hip (W/H) ratio, and body mass index (BMI) were measured and HOMA-IR was calculated. Genotyping was conducted by DNA sequencing of 353 bp fragments, carrying the Arg16Gly polymorphic site. Results and Conclusion. Overweight and obese subjects had a significantly higher frequency of Gly16 (0.375 and 0.38, resp.) compared with normal-weight subjects (0.200). In addition, subjects carrying Gly16 allele regardless of their BMI had greater waist and hip circumference, W/H ratio, plasma lipids, leptin, glucose level, and insulin resistance as judged from the HOMA-IR, compared to those with the wild-type allele. The findings of this study show a significant association between the Arg16Gly polymorphism in ß2AR gene and the development of insulin resistance, overweight, and obesity in Saudi populations with an influence on the levels of lipid and leptin.

The Gln27Glu polymorphism in ß2-adrenergic receptor gene is linked to hypertriglyceridemia, hyperinsulinemia and hyperleptinemia in Saudis.

BACKGROUND: ß2-adrenoceptor (ß2AR) gene polymorphism glutamine 27 glutamic acid (Gln27Glu) and Arg16Gly were reported to have an association with obesity and obesity related disorders in some population. We evaluated Gln27Glu polymorphism in the ß2AR gene in obese Saudi populations to investigate the association of ß2AR gene with obesity and other related metabolic parameters. DESIGN: We studied possible association of Gln27Glu in ß2AR gene with body mass index (BMI), anthropometric measurements and other metabolic parameters. The ß2AR gene polymorphism (Gln27Glu) was identified by sequencing PCR products representing locus of interest. Based on BMI, the subjects were divided into three groups, normal weight, overweight and obese. The genotype and allele frequency were calculated separately for each group. RESULTS: The allelic frequency of Glu27 did not differ amongst the three groups, though the Glu27 homozygote (Glu/Glu) were more in obese subjects and had higher concentration of triglyceride, leptin and insulin compared to in the Gln27 heterozygotes and Gln/Gln homozygotes. CONCLUSIONS: In this study we were able to provide evidence on the influence of Gln27Glu genetic variant of ß2AR gene on lipid phenotypes, insulin and leptin levels in the Saudi populations.

Hormonal levels of leptin, insulin, ghrelin, and neuropeptide Y in lean, overweight, and obese Saudi females.

OBJECTIVE: To studied the relationship that exists between leptin, ghrelin, insulin, neuropeptide Y (NPY), anthropometric, and metabolic variables in Saudi females. METHODS: The study was conducted at the Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Kingdom of Saudi Arabia from November 2004 to August 2005. One hundred and twenty-two Saudi females were divided into 3 body mass index (BMI) groups: lean (N=60), overweight (N=17), and obese (N=45). Fasting leptin, ghrelin, insulin, NPY and glucose concentrations were determined. RESULTS: Leptin levels in overweight and obese groups were significantly higher than those in lean group. Leptin levels showed a positive correlation with BMI in obese (0.81), overweight (0.78), and lean (0.48). In contrast, ghrelin concentration decreased in obese and overweight subjects compared to lean subjects. Ghrelin levels were negatively correlated with BMI in obese (-0.81), overweight (-0.58), and lean subjects (-0.62). Negative correlations were found between serum insulin and ghrelin concentrations in lean and obese subjects. Glucose and insulin levels were significantly higher in the obese group compared to controls. No differences were found in serum NPY between the 3 groups. CONCLUSION: Leptin levels increased remarkably with increasing BMI. A leptin resistance state seems to exist in many obese and overweight individuals. Ghrelin concentration was decreased in overweight and obese subjects. These data demonstrate a significant inverse relationship between ghrelin and leptin levels in overweight and obese subjects.

A new era for preventive genetic programs in the Arabian Peninsula.

In the Arabian Peninsula, high percentages of consanguineous marriages and the tribal nature of marriages have resulted in high incidence of genetically based disorders. The successful management of these disorders incurs a high financial cost, which is a great burden on the health care system. The practical solution to this problem is through prevention. Prevention of genetic disorders should be the utmost public health concern especially where these disorders are prevalent. Preventive genetics became possible with the advent of biochemical and molecular technologies. Biochemical neonatal screening based on tandem mass spectrometry technology and molecular technologies such as sequencing, DNA microarray and nucleic acid hybridization techniques are steadily being transferred to clinical practice. Preventive genetics could be best achieved through establishment of databases for common genetic disorders, premarital diagnosis, and pre-implantation genetic diagnosis and by genetic counseling. These preventive measures must take into account the social and cultural aspects.

A simple, rapid test for the differential diagnosis of glycogen storage disease type 3.

BACKGROUND: Type 3 glycogen storage disease is an inborn error of metabolism in young infants that often requires extensive workup. However, this disease manifests with few symptoms other than hepatosplenomegaly. At adolescence, this disease may cause myopathy and cardiomyopathy. Since a significant portion of referrals to pediatrics is for evaluation of a hepatosplenomegaly, the differential diagnosis of this disease assumes importance. METHODS: The clinical and biochemical findings in 26 patients with the type 3 glycogen storage disease were investigated. Biochemical parameters included ALT, AST, total CK and CK-MB. RESULTS: Changes in ALT, AST and total CK were observed to varying degrees. However, CK was found to be a diagnostic indicator for type 3 glycogen storage disease and appears to be a pathognomic marker. CONCLUSIONS: Use of CK may reduce the need for extensive diagnostic profiles and aid in the rapid identification and initiation of management for patients presenting with hepatosplenomegaly.