Genetic polymorphism

An investigation of the relationship between serotonin transporter gene promoter polymorphism and psoriasis susceptibility in a Thai population

T. Tencomnao and Wongpiyabovorn, J., An investigation of the relationship between serotonin transporter gene promoter polymorphism and psoriasis susceptibility in a Thai population, vol. 9, pp. 2275-2282, 2010.

The serotonin transporter (5-HTT) is of great significance in the control of the serotonergic system, and its expression is known to be upregulated in psoriasis, a chronic or recurrent inflammatory skin disease. We investigated a possible association between the 5-HTT gene-linked polymorphic region (5-HTTLPR) and psoriasis in a Thai population. One hundred and fifty-six psoriatic patients and 156 unrelated healthy controls from Bangkok were genotyped using PCR. We found no overall differences in genotype distributions or allele frequencies between the two groups.

Association between ACP1 genetic polymorphism and favism

V. Polzonetti, Passini, V., and Lucarini, N., Association between ACP1 genetic polymorphism and favism, vol. 10, pp. 878-884, 2011.

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 population.

Association of variable number of tandem repeats polymorphism in the IL-4 gene with end-stage renal disease in Malaysian patients

R. Vasudevan, Norhasniza, M. N., and Patimah, I., Association of variable number of tandem repeats polymorphism in the IL-4 gene with end-stage renal disease in Malaysian patients, vol. 10, pp. 943-947, 2011.

Variable number of tandem repeats (VNTR) polymorphism in the interleukin 4 (IL-4) gene has been associated with end-stage renal disease (ESRD) subjects in many different populations, although with conflicting results. We determined the 70 bp of VNTR polymorphism at intron 3 of the IL-4 gene in Malaysian ESRD subjects. Buccal cells were collected from 160 case and 160 control subjects; genomic DNA was amplified using PCR, followed by agarose gel electrophoresis. There were significant differences in genotypes and alleles of the IL-4 gene.

A novel SNP of the C/EBPα gene associated with superior meat quality in indigenous Chinese cattle

H. Wang, Zan, L. S., Wang, H. B., and Song, F. B., A novel SNP of the C/EBPα gene associated with superior meat quality in indigenous Chinese cattle, vol. 10, pp. 2069-2077, 2011.

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 populations were found to be in Hardy-Weinberg equilibrium.

Association between peroxisome proliferator-activated receptor gamma coactivator-1 alpha polymorphism and hypertension in Mongolians in Inner Mongolia

X. L. Su, Dong, H. R., Yan, M. R., Cui, H. W., Yang, L., and Han, F. Q., Association between peroxisome proliferator-activated receptor gamma coactivator-1 alpha polymorphism and hypertension in Mongolians in Inner Mongolia, vol. 10, pp. 3930-3936, 2011.

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 index was calculated. PCR-RFLP was used to analyze Gly482Ser polymorphisms.

Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil

J. M. Biselli, Goloni-Bertollo, E. M., Zampieri, B. L., Haddad, R., Eberlin, M. N., and Pavarino-Bertelli, E. C., Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil, vol. 7, pp. 33-42, 2008.

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 had no children with DS were evaluated.

ABO genotyping in leukemia patients reveals new ABO variant alleles

M. C. Z. Novaretti, Domingues, A. E., Manhani, R., Pinto, E. M., Dorlhiac-Llacer, P. E., and Chamone, D. A. F., ABO genotyping in leukemia patients reveals new ABO variant alleles, vol. 7, pp. 87-94, 2008.

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 present study was to perform ABO genotyping in patients with leukemia.

Effects of ABCB1 3435C>T genotype on serum levels of cortisol and aldosterone in women with normal menstrual cycles

T. Nakamura, Okamura, N., Yagi, M., Omatsu, H., Yamamori, M., Kuwahara, A., Nishiguchi, K., Horinouchi, M., Okumura, K., and Sakaeda, T., Effects of ABCB1 3435C>T genotype on serum levels of cortisol and aldosterone in women with normal menstrual cycles, vol. 8, pp. 397-403, 2009.

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 onset of menstruation, N = 22; menstrual phase, N = 11, and postmenstrual phase, N = 18). ABCB1 -129T>C, 1236C>T, 2677G>A/T, and 3435C>T genotypes were determined.

LEPR p.Q223R, β3-AR p.W64R and LEP c.-2548G>A gene variants in obese Brazilian subjects

S. F. P. Duarte, Francischetti, E. A., Genelhu, V. A., Cabello, P. H., and Pimentel, M. M. G., LEPR p.Q223R, β3-AR p.W64R and LEP c.-2548G>A gene variants in obese Brazilian subjects, vol. 6, pp. 1035-1043, 2007.

Obesity is due to the combined effects of genes, environment, lifestyle, and the interactions of these factors. The adrenergic receptor β3 (β3-AR), leptin (LEP) and leptin receptor (LEPR) genes have been intensively evaluated in the search of variants that could be related to obesity and its cardiometabolic complications. The results of most of these studies have been controversial.

Genetic polymorphism at spinocerebellar ataxia 1 and 2 loci in Brazil

S. F. P. Duarte, Gestinari, R. S., Campos-Jr., M., Pimentel, M. M. G., and Lima, M. A. Costa, Genetic polymorphism at spinocerebellar ataxia 1 and 2 loci in Brazil, vol. 2, pp. 360-365, 2003.

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.

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