Research Article

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06/07/2011
BMI; Leptin; MC4R gene; Obesity

Mutations in the melanocortin-4 receptor (MC4R) are associated with severe obesity, independent of their effect on cortisol or thyroid-stimulating hormone levels. We examined a morbidly obese male (BMI = 62 kg/m2) with a binge-eating disorder and eight family members for mutations in the MC4R gene and potential differences in leptin levels. Fifty healthy individuals served as ... more

S. Buchbinder; U. Bärtsch; M. Müller; M. Zorn; P.P. Nawroth; T. Schilling
07/15/2013
Leptin; Leptin receptor; Polymorphism; Preeclampsia

The aim of this study was to investigate the relationship between the leptin receptor (LEPR) polymorphism/serum leptin level and preeclampsia. The prevalence of a single nucleotide polymorphism in the LEPR gene exon 14 at -656 and the serum leptin concentrations in 97 preeclamptic pregnant mothers were compared to those of 110 healthy controls. The Lys656Asn genotype and ... more

S. Wang; F.Y. Qiao; L. Feng
02/14/2014
Gene expression; Leptin; Leptin receptor; Swine

Leptin is an important regulator of appetite, energy metabolism, and reproduction and is mainly synthesized in the adipocytes and then secreted into the bloodstream. The leptin receptor was classified as type I cytokine receptor due to its structural homology with IL-6 receptors and the signaling pathways in which they are both involved. The aim of our study is to comparatively assess the ... more

S.E. Georgescu; M.A. Manea; S. Dinescu; M. Costache
12/05/2003
Dynamic mutation; Genetic polymorphism; SCA1; SCA2; Spinocerebellar ataxia

Dynamic mutation involves the expansion of a tandem arrayed DNA sequence that is polymorphic in the population. This mechanism is associated with neurological/neuromuscular disorders and the pathology depends on the extension of the repeated tract, with a specific threshold for each disease. We made a PCR-based characterization of allelic polymorphism of SCA1 and SCA2 loci in a sample of 200 ... more

S.F.P. Duarte; R.S. Gestinari; M. Campos-Jr.; M.M.G. Pimentel; M.A.Costa Lima
04/07/2009
aldosterone; cortisol; Genetic polymorphism; MDR1; menstrual cycle; P-glycoprotein

ABCB1, also known as MDR1/P-glycoprotein, can transport cortisol and aldosterone. We examined the effects of ABCB1 polymorphisms on serum levels of cortisol and aldosterone among different phases of the normal menstrual cycle in 51 non-pregnant healthy Japanese female volunteers (22 ± 1 years old). The menstrual cycle was divided into three phases: premenstrual phase (14 days preceding the ... more

T. Nakamura; N. Okamura; M. Yagi; H. Omatsu; M. Yamamori; A. Kuwahara; K. Nishiguchi; M. Horinouchi; K. Okumura; T. Sakaeda
01/22/2008
Down syndrome; Genetic polymorphism; Nondisjunction; Trisomy 21

The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). Seventy-two DS mothers and 194 mothers who ... more

J.M. Biselli; E.M. Goloni-Bertollo; B.L. Zampieri; R. Haddad; M.N. Eberlin; E.C. Pavarino-Bertelli
02/01/2008
ABO blood group; ABO gene; Brazilian population; DNA polymorphism; Genetic polymorphism; Leukemia

The ABO blood group is the most important blood group system in transfusion medicine and organ transplantation. To date, more than 160 ABO alleles have been identified by molecular investigation. Almost all ABO genotyping studies have been performed in blood donors and families and for investigation of ABO subgroups detected serologically. The aim of the ... more

M.C.Z. Novaretti; A.E. Domingues; R. Manhani; E.M. Pinto; P.E. Dorlhiac-Llacer; D.A.F. Chamone
12/12/2011
Genetic polymorphism; Hypertension; Mongolian; Peroxisome proliferator-activated receptor gamma coactivator-1 alpha

We investigated a possible association of peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PGC-1α) Gly482Ser polymorphism with hypertension in Mongolians in Inner Mongolia. A total of 787 subjects were enrolled randomly, including 390 hypertension patients and 397 healthy controls. Triglycerides, cholesterol, and fasting plasma glucose were measured, and body mass ... more

X.L. Su; H.R. Dong; M.R. Yan; H.W. Cui; L. Yang; F.Q. Han
09/16/2011
Bovine C/EBPa gene; Genetic polymorphism; Meat quality traits; PCR-SSCP

CCAAT/enhancer-binding protein alpha (C/EBPa) is an essential transcriptional factor regulating the differentiation of adipocytes. We report a novel single nucleotide polymorphism (C271A) of the C/EBPa gene in six indigenous Chinese cattle breeds using PCR-SSCP and DNA sequencing methods. Allele frequencies were investigated and evaluated by the χ2 test in 817 individuals; all ... more

H. Wang; L.S. Zan; H.B. Wang; F.B. Song
05/17/2011
Acid phosphatase locus 1; Favism; Genetic polymorphism; Glucose-6-phosphate dehydrogenase deficiency; LMW protein tyrosine phosphatases

An association between favism (a hemolytic reaction to consumption of fava beans), glucose-6-phosphate dehydrogenase deficiency (G6PD-) and acid phosphatase locus 1 (ACP1) phenotypes has been reported; the frequency of carriers of the pa and pc ACP1 alleles was found to be significantly higher in G6PD- individuals showing favism than in the general ... more

V. Polzonetti; V. Passini; N. Lucarini

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