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Allele C (allele + c)

Distribution by Scientific Domains

Life Sciences	77%
Medical Sciences	22%

Selected Abstracts

ORIGINAL ARTICLE: PTPN22 C1858T Polymorphism in Women with Endometriosis

AMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 3 2010
Fabiane M. C. S. Gomes
Citation Gomes FMCS, Bianco B, Teles JS, Christofolini DM, de Souza AMB, Guedes AD, Barbosa CP. PTPN22 C1858T polymorphismin women with endometriosis. Am J Reprod Immunol 2010; 63: 227,232 Problem, Endometriosis has been suggested to be an autoimmune disease and recently, an allelic variation of the PTPN22 (C1858T) gene was revealed to be associated with the development of autoimmunity. The aim of the study was to determine the frequency of the PTPN22 (C1858T) polymorphism in Brazilian women with endometriosis as compared with controls. Method of study, Case,control study included 140 women with endometriosis and a control group consisting of 180 healthy fertile women without a history of endometriosis and/or autoimmune diseases from the ABC School of Medicine. The PTPN22 (C1858T) polymorphism was studied by restriction fragment length polymorphism polymerase chain reaction (RFLP-PCR). Results, Genotypes CC, CT and TT of PTPN22 polymorphism presented frequencies of 67.9, 30.0 and 2.1% in the women with endometriosis (P = 0.008); 76.2, 19.0 and 4.8% in women with minimal/mild endometriosis (P = 0.173); 61.0, 39.0 and 0.0% in women with moderate/severe endometriosis (P , 0.001) and 82.8, 16.1 and 1.1% in control group. Allele C and T were present in 82.9 and 17.1%; 85.7 and 14.3%; 80.5 and 19.5%; and 90.8 and 9.2% respectively, in women with endometriosis (P = 0.004), women with minimal/mild endometriosis (P = 0.148), women with moderate/severe endometriosis (P = 0.002) and control group. Conclusion, The data suggest that in Brazilian women polymorphism PTPN22 (C1858T) may be an important genetic predisposing factor for endometriosis, especially, in advanced disease. [source]

Effects of GH gene polymorphism and sex on carcass traits and fatty acid compositions in Japanese Black cattle

ANIMAL SCIENCE JOURNAL, Issue 1 2009
Astrid ARDIYANTI
ABSTRACT To investigate the effects of bovine growth hormone (bGH) gene polymorphism on carcass traits and fatty acid compositions in Japanese Black cattle caused by nucleotide substitution of CTG (allele A)/GTG (allele B) at codon 127 and of ACG (allele A and B)/ATG (allele C) at codon 172 of bGH, GH genotypes of 135 cattle were determined using allele specific-multiplex polymerase chain reaction (PCR). Allele A gave greater rib thickness and lower melting point of fat (MP) while allele B gave higher C18:1% (P < 0.05). Allele C gave higher C18:1, monounsaturated fatty acid (MUFA), unsaturated fatty acid (USFA) percentages (P < 0.05). It also gave lower saturated fatty acid (SFA) percentages, higher MUFA/SFA and USFA/SFA ratios, and lower MP (P < 0.05). Interactions of sex and GH alleles were analyzed. In heifers, allele A gave higher carcass weight, daily carcass gain, rib eye area, rib thickness, subcutaneous fat thickness, and BMS while allele B gave greater rib eye area and rib thickness (P < 0.05). Allele C gave higher C18:1 (P < 0.01), MUFA (P < 0.01), USFA percentages (P < 0.05) and MUFA/SFA and USFA/SFA ratios (P < 0.01), and lower C16:0 and SFA percentages (P < 0.05) and MP (P < 0.01). GH gene polymorphism affected carcass traits and fatty acid compositions although the effects were more pronounced in heifers. [source]

Gene polymorphism in transforming growth factor-beta codon 10 is associated with susceptibility to Giardiasis

INTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 6 2009
H. Taherkhani
Summary Secretory immunoglobulin A (S-IgA) antibodies have a central role in anti-Giardial defence. It has been demonstrated that transforming growth factor-beta1 (TGF-,1) stimulates B lymphocytes to produce and secrete S-IgA. We sought to determine the association between TGF-,1 polymorphism (T+869C) with susceptibility to Giardiasis. The TGF-,1 genotypes and levels of salivary (S-IgA) were analysed in individuals with Giardiasis (97 symptomatic and 57 asymptomatic) and controls (n = 92). Individuals with symptomatic Giardiasis had the lowest levels of S-IgA compared to individuals in asymptomatic Giardiasis and control groups (97%, 73% and 43%, <1 g L,1, respectively, P = 0.002). The frequency of allele C and CC genotypes of TGF-,1 polymorphism was significantly higher among symptomatic patients than asymptomatic and control groups. Logistic regression analysis demonstrated that the individuals homozygous for allele C of TGF-,1 had a significantly higher risk for symptomatic Giardiasis with odds ratio of 2.76 (95% CI: 3.88, 1.71, P = 0.007). Among the participants with TT genotype per cent of individuals with S-IgA level of more than 1 g L,1 was almost twice the percentage in CC genotype individuals (14% versus 7% respectively P = 0.01). Our data suggest that CC genotype of TGF-,1 polymorphism at codon 10 is associated with occurrence of Giardiasis. [source]

Polymorphisms in the ovine myostatin gene (MSTN) and their association with growth and carcass traits in New Zealand Romney sheep

ANIMAL GENETICS, Issue 1 2010
J. G. H. Hickford
Summary Myostatin is a regulator of myogenesis and has been implicated in the regulation of adiposity and in controlling the structure and function of tendons. Polymerase Chain Reaction Single-Stranded Conformational Polymorphism (PCR-SSCP) analysis of intron-1 was used to identify five variants (designated A-E) of the myostatin gene (MSTN). The effect of this genetic variation on growth and carcass traits was investigated in 517 Romney male lambs from 17 sire-lines, born on a South Island New Zealand farm. General linear mixed effect models revealed that the presence of allele A in a lamb's genotype was associated with decreased leg, loin and total yield of lean meat, whereas the presence of allele B was associated with increased loin yield and proportion loin yield (loin yield divided by total yield expressed as percentage). The effect of the number of allele copies present was investigated, and it was found that the absence of A, or the presence of two copies of B, was associated with increased mean leg yield, loin yield and total yield. Two copies of B were also associated with a decrease in proportion of shoulder yield, whereas two copies of A were associated with a decrease in proportion of loin yield. Associations with allele C were not detected. No associations of MSTN variation with birth weight, weaning weight, pre-weaning growth rate, draft age and hot carcass weight (H-W) were detected. These results suggest that variation in ovine MSTN is associated with meat production, but not birth weight or growth rate in New Zealand Romney sheep. [source]

Polymorphism of the ovine ,3 -adrenergic receptor gene (ADRB3) and its association with wool mean staple strength and yield

ANIMAL GENETICS, Issue 6 2009
R. H. Forrest
Summary We investigated the possibility that variation in ovine ADRB3 is associated with various wool traits, in particular mean staple strength (MSS). Polymerase chain reaction-single strand conformational polymorphism analysis of part of the ADRB3 intron was used to genotype 695 Merino lambs born on three farms in the South Island of New Zealand and which were shorn as 2-tooths. For each fleece, MSS, mean fibre diameter, mean staple length and yield were measured. The results from mixed-effects models and half-sib analyses suggest that ADRB3 alleles A and D have a negative impact on some wool traits, whereas ADRB3 alleles C and E appear to have a positive impact, with allele C potentially having a greater impact than allele E on MSS. This variation in the ADRB3 may assist in the genetic selection for increased MSS and yield in Merino sheep. [source]

Effects of GH gene polymorphism and sex on carcass traits and fatty acid compositions in Japanese Black cattle

An INSIG2 Polymorphism Affects Glucose Homeostasis in Sardinian Obese Children and Adolescents

ANNALS OF HUMAN GENETICS, Issue 5 2010
Patrizia Zavattari
Summary Allelic variants of a single nucleotide polymorphism (SNP), rs7566605, located approximately 10 kb upstream of the INSIG2 gene have been found in association with body weight and with other clinical features related to obesity in some populations but not in others. Our objective was to test the association of this SNP in obese children and adolescents from the genetically isolated population of Sardinia. We tested the association of rs7566605 with body mass index (BMI) and with serum glucose and insulin concentrations and a surrogate measure of insulin resistance (HOMA-IR) in a cohort of 747 Sardinian obese children and adolescents. A case control analysis was performed using 548 ethnically-matched healthy controls. Allelic frequencies of the SNP were similar between patients and controls. Mean glucose and insulin concentration and mean HOMA-IR values were significantly higher in patients carrying the CC genotype than in the CG and GG carriers. In the patients with impaired fasting glucose (IFG) and/or impaired glucose tolerance (IGT), allele C was significantly more frequent than in controls. Although INSIG2 polymorphisms do not consistently associate with BMI, the observation of an association with glucose concentration would support a role for this gene in the metabolic complications of obesity. [source]

Allele C-specific methylation of the 5-HT2A receptor gene: Evidence for correlation with its expression and expression of DNA methylase DNMT1

JOURNAL OF NEUROSCIENCE RESEARCH, Issue 3 2006
Oxana O. Polesskaya
Abstract Differential DNA methylation has been suggested to contribute to differential activity of alleles C and T and thereby to genetic associations between the C/T(102) polymorphism in the 5-HT2A receptor gene (5HT2AR) and psychiatric disorders. We surveyed methylation in two CpG sites, which are specific to allele C. The majority of allele C-specific CpG sites were methylated in human temporal cortex and peripheral leukocytes and levels of methylation varied between individuals. Levels of methylation in the promoter correlated significantly with the expression of 5HT2AR. Methylation of allele C-specific CpG sites in the first exon correlated significantly with the expression of DNA methylase 1 (DNMT1) but not S-adenosylhomocysteine hydrolase (AHCY). These findings support the hypothesis that allele-specific DNA methylation is involved in regulation of 5HT2AR expression, influencing expression differences between alleles C and T. © 2005 Wiley-Liss, Inc. [source]