ABSTRACT
OBJECTIVES: In Qataris, a population characterized by a small size and a high rate of consanguinity, between two-thirds to three-quarters of adults are overweight or obese. We investigated the relevance of 23 obesity-related loci in the Qatari population. METHODS: Eight-hundred-four individuals assessed to be third generation Qataris were included in the study and assigned to 3 groups according to their body mass index (BMI): 190 lean (BMI < 25 kg/m(2)); 131 overweight (25 kg/m(2) ≤ BMI < 30 kg/m(2)) and 483 obese (BMI ≥ 30 kg/m(2)). Genomic DNA was isolated from peripheral blood and genotyped by TaqMan. RESULTS: Two loci significantly associated with obesity in Qataris: the TFAP2B variation (rs987237) (A allele versus G allele: chi-square = 10.3; P = 0.0013) and GNPDA2 variation (rs10938397) (A allele versus G allele: chi-square = 6.15; P = 0.013). The TFAP2B GG genotype negatively associated with obesity (OR = 0.21; P = 0.0031). Conversely, the GNDPA2 GG homozygous genotype associated with higher risk of obesity in subjects of age < 32 years (P = 0.0358). CONCLUSION: We showed a different genetic profile associated with obesity in the Qatari population compared to Western populations. Studying the genetic background of Qataris is of primary importance as the etiology of a given disease might be population-specific.
Subject(s)
Arabs/genetics , Consanguinity , Genetic Loci , Genetic Predisposition to Disease , Obesity/genetics , Adult , Body Mass Index , Female , Humans , Logistic Models , Male , Middle Aged , Phenotype , Polymorphism, Single Nucleotide/genetics , Principal Component Analysis , Qatar , Racial Groups/genetics , Thinness/geneticsABSTRACT
Leiomyosarcomas (LMS) account for 10-20% of all soft tissue sarcomas. We analyzed 10 primary, 5 metastatic, and 2 recurrent extrauterine LMS. Genomic imbalances were detected in 15 out of the 17 tumors. The most common regions of loss were 13q (59%, 10 of 17), 10q (59%, 10 of 17), 2q (35%, 6 of 17), and 16q (29%, 5 of 17). The most common region of gain was 5p (35%, 6 of 17). High-level gain of DNA copy number was detected in 6p and 17p. Loss of function of tumor suppressor genes or the activation of oncogenes (or both of these factors) resulting from these copy number changes might play an important role in the development of extrauterine LMS. Large tumors and tumors with metastasis showed 10q deletions. Gain of 5p was detected only in G3 tumors. These findings are consistent with our earlier study on uterine LMS and indicate that loss of 10q and gain of 5p are associated with an aggressive behavior of LMS. A larger series of cases is needed to confirm these results.
