Impact of the Pro12Ala polymorphism of the PPARγ2 gene on diabetes and obesity in a highly consanguineous population.

BACKGROUND: The peroxisome proliferator-activated receptors (PPARs) are members of the nuclear hormone receptor subfamily of transcription factors. It has been reported that they play important roles in obesity and the development of type 2 diabetes mellitus (T2DM). MATERIALS AND METHODS: This case-control study was carried out among 764 Qatari patients with diabetes and 764 healthy subjects above 20 years of age at Primary Healthcare Clinics (PHCs) from January 2011 to December 2012. Face-to-face interviews were based on a questionnaire that included variables such as age, sex, sociodemographic status, body mass index (BMI) and other clinical parameters. The Pro12Ala in the PPARγ2 gene was detected on the LightCycler using two specific probes. Univariate and multivariate statistical analysis were performed. RESULTS: The study revealed that in the diabetes group, Pro/(10.2% vs 9.4%; P = 0.606) and Ala/Ala (1.4% vs 0.9%; P = 0.343) were higher than in controls, whereas Pro/Pro (88.4% vs 89.7%;P = 0.413) was lower in diabetes patients, but no significant difference was observed among the genotype groups. In obese patients with diabetes, Pro/Pro (89% vs 89.9%;P = 0.792) and Pro/Ala (8.9% vs 10.1%;P = 0.671) were lower than in obese healthy subjects. No homozygous Ala/Ala was found in obese healthy subjects, whereas 6 Ala/Ala homozygotes were in obese diabetes group. But in diabetes group, obese patients had higher homozygous of Pro/Pro (89.3% vs 87.8%;P = 0.523) and Ala/Ala (1.8% vs 1.2%;P = 0.771) compared to non-obese patients. CONCLUSION: The current study did not reveal an association between the Pro12Ala polymorphism of the PPAR γ2 gene and type 2 diabetes (T2D) in Qatari's population.

Multiple endocrine neoplasia type iia: report of a family with a study of three generations in qatar.

OBJECTIVE: To study the pattern of multiple endocrine neoplasia type IIA (MEN IIA) and describe the clinical features and results of genetic testing and treatment in 21 members of the first reported family with MEN IIA in Qatar. METHODS: After identification of the proband, we screened all her family members (21 members) with genetic testing for the RET proto-oncogene mutation. Those subjects with the mutation were further assessed for pheochromocytoma by measurement of the 24-hour urinary vanillylmandelic acid, metanephrines, and catecholamines, and those with high levels underwent a metaiodobenzylguanidine scan and adrenalectomy. The serum calcium was measured in a effort to detect hyperparathyroidism. Those family members who had the mutation and were eligible for surgical treatment underwent total thyroidectomy and central compartment dissection. In those patients with high postoperative calcitonin levels, residual disease was sought with radiologic imaging, and follow-up was done with pentagastrin stimulation tests. RESULTS: Of the 21 family members screened, 10 had the RET proto-oncogene mutation (codon 634, TGC->GGC) (5 females and 5 males; 6 adults and 4 children). All the adults had bilateral medullary thyroid carcinoma (MTC); four of them had lymph node metastatic lesions, and one had metastatic involvement of the liver. Two adults had pheochromocytomas. Two family members were reported to have parathyroid hyperplasia, although both were normocalcemic. CONCLUSION: This family with MEN IIA showed classic mendelian autosomal dominant inheritance. All adult patients had MTC, two had pheochromocytomas, and two had parathyroid hyperplasia. Although one child had a high stimulated calcitonin level, the histopathologic findings were normal; another child with high stimulated calcitonin levels showed C-cell hyperplasia on histopathologic examination.