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OBJECTIVE: To investigate the relationship between the polymorphisms of the b b 3 ± AR (Trp64Arg), UCP1 (A?G) and LPL (HindIII and PvuII) loci and the metabolic complications associated with obesity in a Turkish population. SUBJECTS: 271 unrelated individuals of Turkish origin including obese (body mass index, BMIb b30 kga am 2 ) and lean (BMI 25 kga am 2 ) subjects. MEASUREMENTS: Anthropometric (weight, height and blood pressure) and metabolic measurements (plasma levels of glucose, cholesterol and triglycerides), and determination of b b 3 ± AR, UCP1 and LPL genotypes by polymerase chain reaction followed by enzymatic digestion. RESULTS: The distributions of genotypes for each candidate gene (b b 3 ± AR, UCP1 and LPL) were similar between the obese and the lean subjects. The Arg 64 allele of the b b 3 ± AR gene was absent from massively obese men. GG carriers of the A?G variant of the UCP1 gene showed BMI-associated increases of cholesterol levels which were more marked than both AA (P 0.027) and AG (P 0.039) carriers. Obese P carriers of the LPL PvuII variant had signi®cantly higher levels of glucose than non-carriers (P 0.011), whereas obese P P carriers did not have signi®cantly different levels of triglycerides than non-carriers (P 0.087). Moreover, carriers of both alleles (G&P ) had higher levels of glucose than non-carriers (P 0.048), but did not have signi®cantly different levels of triglycerides than non-carriers (P 0.125). However, the BMI-associated increase of triglycerides of P &G carriers was signi®cantly more marked than that of P carriers (P 0.0085). CONCLUSION: Our data support the idea that alleles of speci®c genes (UCP1, LPL and b b 3 ± AR) might play a role in the development of certain metabolic complications of obesity and might have additive effects when combined with each other (as in the case of UCP1 and LPL).

ABSTRACT. We present here two DIDMOAD syndrome cases (Diabetes Mellitus, Diabetes Insipidus, Optic Atrophy, Deafness) in a Turkish family. In the examination of the propositus who had consanguineous parents, diabetes mellitus, diabetes insipidus, optic atrophy, and deafness were observed in addition to myopia, juvenile glaucoma, posterior polar cataract, and dilatation of the urinary tract. Diabetes mellitus, diabetes inspidus, optic atrophy, deafness, myopia, and ventricular septal defect were observed in his elder brother. Juvenile onset diabetes mellitus, congenital glaucoma, deafness, and heart disease were the other remarkable findings observed in relatives to this family. Juvenile glaucoma, posterior polar cataract observed in our propositus, and myopia in both our DIDMOAD syndrome cases are the first ophthalmic manifestations described in the DIDMOAD syndrome.

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Multidrug-resistance (MDR) phenotype is a serious limitation to the effective chemotherapeutic treatment of many cancer types, including leukemia. One of the most important proteins, the over-expression of which is responsible for the multidrugresistance phenotype in many cancer types, is P-glycoprotein. This protein is the product of the MDR1 gene. In previous studies, single-nucleotide polymorphisms (SNPs) C3435T, G2677T, and T-129C in the MDR1 gene were shown to be correlated with lower P-glycoprotein expression in normal tissues. It was suggested that this might have an advantage in cancer chemotherapy by resulting in a low drug-resistance phenotype. The frequencies of these SNPs were studied in 45 acute leukemia patients (25 of which were primary refractory and 20 of which were drug-sensitive) and 17 healthy individuals, forming a Turkish population of 62 individuals. In the first part of the study, these polymorphisms were compared with other populations. Marked differences were apparent between African and Turkish populations for the C3435T polymorphism. On the other hand, similarities were found between other Caucasian/Asian and Turkish populations (P < 0.001). However, for the G2677T polymorphism, the Turkish population is different than Japanese and German populations (P < 0.001). For the T-129C polymorphism, all individuals in the studied population were homozygous for the T/T genotype. In the second part of this study, drug-resistant and drugsensitive acute leukemia patients were compared for these SNPs. These polymorphisms did not seem to have a significant effect on P-glycoprotein-mediated drug resistance in the patients studied. Am.