Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Genetic polymorphisms”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,639 records · Page 91Linked to original sources
PubMed1984

Human alpha 1-antitrypsin genetic polymorphism: PI N subtypes.

Three new genetic variants (PI types) of alpha 1-antitrypsin are described. They have been compared to previously described phenotypes by several techniques including narrow pH range isoelectric focusing in ultrathin polyacrylamide gels. In this system, the relevant alpha 1-antitrypsin gel bands, identified by crossed immunoelectrophoresis, focused between PI M2, the most cathodal PI M subtype, and PI P BUD, the most anodal PI P subtype. They were therefore considered to be PI N subtypes. Two of them, PI N GRO and PI N YER, could not be separated by isoelectric focusing, but gave a different pattern in agarose gel electrophoresis. None of the new alleles seemed to be associated with disease. The high resolving power of isoelectric focusing is emphasized with respect to the information it may provide concerning amino acid substitutions, while the use of other techniques proved to be of utmost importance in the differentiation of other variants showing similar isoelectric points.

Electrophoresis, Agar Gel↗
PubMed1977

Genetic polymorphism of the sixth component of complement (C6) in the rhesus monkey.

With isoelectric focusing, the complement protein C6 has been shown to be genetically polymorphic in the rhesus monkey. Three codominant alleles of a single autosomal locus, Rh C6, have been recognized: C6A, C6B, and C6R, with gene frequencies of 0.592, 0.354, and 0.053 in a random rhesus monkey population. Hardy-Weinberg analysis of the phenotypic frequencies in this population yielded observed values very close to those expected. Both natural mating between individuals carrying the various alleles and artificial combinations of sera of the different C6 types demonstrate patterns consistent with this model. Analysis of several families of monkeys confirmed the Mendelian autosomal codominant inheritance with numbers of offspring very close to expected values and no offspring types inconsistent with the mating pair types.

Animals↗
PubMedDate not supplied

Genetic polymorphisms and environmental risk of lung cancer: a review.

Lung cancer results from man-made and natural environmental exposures acting in concert with both genetic and acquired characteristics. Chronic inhalation of cigarette smoke is a major risk factor, and environmental tobacco exposure can cause lung cancer in life-long neversmokers. Air pollution, indoor-radon exposure, occupational exposures, dietary, physical activity, and reproductive history have been identified as independent or contributing risk factors for lung cancer. Because only a small portion of smokers develops the disease, genetic susceptibility can contribute to the risk. Developments in molecular biology have led to the discovery of biological markers that increase predisposition to lung carcinogenesis. Therefore, the high-risk genotype of an individual can be determined easily. Because of the great number of carcinogen-activating and -detoxifying enzymes, the variation in their expression, the complexity of exposures to tobacco carcinogens, and the existence of multiple alleles at loci of those enzymes results in differential susceptibilities of individuals. As lung cancer is a multifactorial disease, an improved understanding of the interplay of environmental and genetic polymorphisms at multiple loci can help identify individuals who are at increased risk for lung cancer. Hopefully, in the future we will be able to screen for lung cancer susceptibility by using specific biomarkers.

Biomarkers↗
PubMed2005

A comparison of genetic polymorphism in populations of Onchocerca volvulus from untreated- and ivermectin-treated patients.

An analysis of the polymorphism of 16 genes from Onchocerca volvulus was undertaken, in two populations of worms from either ivermectin-naïve patients or patients who had been repeatedly treated with ivermectin, in Ghana. Six genes were selected for analysis because studies in other nematodes had suggested a possible association with ivermectin resistance. The other 10 genes were included as control genes and have not been associated with ivermectin resistance. Twelve of the 16 genes were polymorphic, including five of the candidate genes and seven of the control genes. In all of the control genes and four of the candidate genes, there were no differences in genetic polymorphism between the untreated and ivermectin treatment worms. However, there were statically significant differences (chi2=0.05) in allelic frequencies between the untreated and treatment derived worms for P-glycoprotein and beta-tubulin genes; both genes which have been previously associated with ivermectin resistance in other nematodes. These genes were in Hardy-Weinberg equilibrium in the untreated population. However, the P-glycoprotein alleles, in the worms from the patients under treatment were not in Hardy-Weinberg equilibrium, and analysis of the allele frequencies of beta-tubulin suggested that this gene may have also been under selection in the worms from the ivermectin-treated patients. This data provides evidence of genetic selection by ivermectin on O. volvulus and indicates that investigations should be made to determine whether ivermectin resistance is developing. The beta-tubulin and P-glycoprotein genes may prove useful for monitoring for possible development of ivermectin resistance.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed2006

A novel approach to characterise pathogen candidate genetic polymorphisms involved in clinical outcome.

Understanding the key factors influencing the clinical outcome of an infection is crucial for early diagnosis and optimised treatment. Despite widespread recognition of the importance of the genetics composition of pathogens, most efforts so far have focused on characterising disease and susceptibility genes in humans. Here, we propose a new flexible and powerful methodological framework to detect candidate genetic polymorphisms influencing clinical outcome from pathogen genomes. The rationale is to use well-supported clades in a phylogeny as statistical predictors for clinical outcomes rather than the individual polymorphisms themselves. This greatly increases the statistical power to detect candidate polymorphisms when analysing a large number of variable sites. In a second step, the candidate polymorphisms are recovered by characterising the polymorphisms that most strongly support the clades predicting the clinical outcome. The modelling approach further allows including host factors and testing for possible interactions between factors. We illustrate the approach by an application on a dataset of hepatitis B polymerase genes. The statistical model retains age at infection as well as six candidate polymorphisms as predictors for clinical outcome (acute, chronic and fulminant). The method is straightforward to apply and computationally effective. While the approach is focused on detecting candidate polymorphisms from pathogen genomes, the method might be more broadly applied for characterising the link between genotype and phenotype while statistically controlling for environmental factors.

Hepatitis B virus↗
PubMed2000

Acute myocardial infarction in young adults: prognostic role of angiotensin-converting enzyme, angiotensin II type I receptor, apolipoprotein E, endothelial constitutive nitric oxide synthase, and glycoprotein IIIa genetic polymorphisms at medium-term follow-up.

BACKGROUND: A number of reports have investigated the association between various gene polymorphisms and the phenotypic expression of myocardial infarction. No investigations have evaluated the prognostic role of genetic factors in young people with premature coronary disease. The aim of this study was to investigate the influence of genetic factors compared with that of conventional risk factors on follow-up events in a population of Italian young adults with myocardial infarction. METHODS AND RESULTS: The study population consisted of 106 young patients (mean age 40 +/- 4 years, range 23 to 45 years) with diagnosis of acute myocardial infarction. Clinical and genetic data from the group of patients with events during follow-up were compared with those from patients without events. The following genetic polymorphisms were tested: angiotensin I converting enzyme, angiotensin II type I receptor, apolipoprotein E (ApoE), endothelial constitutive nitric oxide synthase, and platelet glycoprotein IIIa. Coronary angiography was performed in 94 patients. Coronary angiography showed coronary artery disease in 93% of patients. During follow-up (46 +/- 12 months, range 25 to 72) the overall combined end points (cardiac death, myocardial infarction, and revascularization procedures) accounted for 21 events. Family history of coronary artery disease, smoking, stenosis of the left anterior descending artery at coronary angiography, and ApoE polymorphism (presence of epsilon4 allele) were significantly more prevalent (univariate analysis) in the group of patients with events. Logistic multivariate analysis showed that ApoE polymorphism (P =. 004, odds ratio [OR] 6.8, 95% confidence interval [CI] 2 to 22), family history (P =.005, OR 8.3, 95% CI 2 to 35), smoking after acute myocardial infarction (P =.008, OR 10.9, 95% CI 2 to 62), and left anterior descending coronary artery disease (P =.02. OR 6.6, 95% CI 1.3 to 33) were independent predictors of adverse events. CONCLUSIONS: Myocardial infarction at a young age is commonly characterized by evidence of multiple cardiovascular risk factors and by a favorable prognosis in short- and medium-term follow-up. Evidence of significant disease at coronary angiography suggests the presence of a premature atherosclerotic process. ApoE polymorphism (presence of epsilon4 allele) appears to be a strong independent predictor of adverse events, suggesting a remarkable influence in the accelerated coronary disease.

Adult↗
PubMed2005

Genetic polymorphisms and the risk of stroke after cardiac surgery.

BACKGROUND AND PURPOSE: Stroke represents a significant cause of morbidity and mortality after cardiac surgery. Although the risk of stroke varies according to both patient and procedural factors, the impact of genetic variants on stroke risk is not well understood. Therefore, we tested the hypothesis that specific genetic polymorphisms are associated with an increased risk of stroke after cardiac surgery. METHODS: Patients undergoing cardiac surgery utilizing cardiopulmonary bypass surgery were studied. DNA was isolated from preoperative blood and analyzed for 26 different single-nucleotide polymorphisms. Multivariable logistic regression modeling was used to determine the association of clinical and genetic characteristics with stroke. Permutation analysis was used to adjust for multiple comparisons inherent in genetic association studies. RESULTS: A total of 1635 patients experiencing 28 strokes (1.7%) were included in the final genetic model. The combination of the 2 minor alleles of C-reactive protein (CRP; 3'UTR 1846C/T) and interleukin-6 (IL-6; -174G/C) polymorphisms, occurring in 583 (35.7%) patients, was significantly associated with stroke (odds ratio, 3.3; 95% CI, 1.4 to 8.1; P=0.0023). In a multivariable logistic model adjusting for age, the CRP and IL-6 single-nucleotide polymorphism combination remained significantly associated with stroke (P=0.0020). CONCLUSIONS: We demonstrate that common genetic variants of CRP (3'UTR 1846C/T) and IL-6 (-174G/C) are significantly associated with the risk of stroke after cardiac surgery, suggesting a pivotal role of inflammation in post-cardiac surgery stroke.

Aged↗
PubMed2005

CYP2C9 and CYP2C19 genetic polymorphisms: frequencies in the south Indian population.

The aim of the study was to establish the frequencies of CYP2C9*1, *2, *3 and CYP2C19*1, *2 and *3 in the south Indian population and to compare them with the inter-racial distribution of the CYP2C9 and CYP2C19 genetic polymorphisms. Genotyping analyses of CYP2C9 and CYP2C19 were conducted in unrelated, healthy volunteers from the three south Indian states of Andhra Pradesh, Karnataka and Kerala, by the polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP). The allele frequencies of the populations of these three states were then pooled with our previous genotyping data of Tamilians (also in south India), to arrive at the distribution of CYP2C9 and CYP2C19 alleles in the south Indian population. Frequencies of CYP2C9 and CYP2C19 alleles and genotypes among various populations were compared using the two-tailed Fisher's exact test. The frequencies of CYP2C9*1, *2 and *3 in the south Indian population were 0.88 (95% CI 0.85-0.91), 0.04 (95% CI 0.02-0.06) and 0.08 (95% CI 0.06-0.11), respectively. The frequencies of CYP2C9 genotypes *1/*1, *1/*2, *1/*3, *2/*2, *2/*3 and *3/*3 were 0.78 (95% CI 0.74-0.82), 0.05 (95% CI 0.03-0.07), 0.15 (95% CI 0.12-0.18), 0.01 (95% CI 0.0-0.02), 0.01 (95% CI 0.0-0.02) and 0.0, respectively. CYP2C19*1, *2 and *3 frequencies were 0.64 (95% CI 0.60-0.68), 0.35 (95% CI 0.31-0.39) and 0.01 (95% CI 0.0-0.03), respectively. As a result of a significant heterogeneity, the data on CYP2C19 genotype frequencies were not pooled. The frequency of CYP2C9*2 mutant alleles in south Indians was higher than in Chinese and Caucasians, while CYP2C9*3 was similar to Caucasians. CYP2C19*2 was higher than in other major populations reported so far. The relatively high CYP2C19 poor-metabolizer genotype frequency of 12.6% indicates that over 28 million south Indians are poor metabolizers of CYP2C19 substrates.

Adult↗
PubMed2005

UDP-glucuronosyltransferase 1A7 genetic polymorphisms are associated with hepatocellular carcinoma risk and onset age.

OBJECTIVES: It has been demonstrated that the UDP-glucuronosyltransferase (UGT) 1A7*3 allele is a risk factor for hepatocellular carcinoma (HCC) in German and Japanese populations. In this study, therefore, we evaluated the association between UGT1A7 genetic polymorphisms and HCC risk in southern Taiwan, where hepatitis B virus (HBV) and hepatitis C virus (HCV) infections are endemic. METHODS: The 217 HCC patients and 291 controls enrolled in this case-control study were genotyped for UGT1A7 polymorphisms using polymerase chain reaction-restriction fragment length polymorphism. RESULTS: Univariate logistic regression analysis revealed that presence of UGT1A7*2 and *3 alleles was associated with HCC risk [odds ratio (OR) = 1.50, 95% confidence interval (CI): 1.04 approximately 2.16 and OR = 1.73, 95% CI: 1.19 approximately 2.52, respectively]. Multiple logistic regression analysis demonstrated that significant independent risk factors for HCC were male gender (OR = 2.53, 95% CI: 1.42 approximately 4.52), HBV infection (OR = 13.73, 95% CI: 8.04 approximately 23.46), HCV infection (OR = 83.93, 95% CI: 37.01 approximately 190.32), and low-activity UGT1A7 genotype [high/low (H/L) genotype: OR = 1.93, 95% CI: 1.12 approximately 3.32; low/low (L/L) genotype: OR = 3.06, 95% CI: 1.50 approximately 6.24]. For male HCC patients, significantly earlier onset age was observed for those bearing the UGT1A7 low-activity genotype as opposed to those with the high-activity analogue (median age: 50 vs 59 yr; p < 0.05). CONCLUSIONS: An inverse dose-response relationship was demonstrated between the detoxifying activity of the UGT1A7 genotypes and HCC. Of the male HCC patients, median onset age for those carrying an UGT1A7 low-activity genotype was 9 yr lower than those bearing the high-activity variant.

Adult↗
PubMedDate not supplied

[Genetic polymorphism of blood and milk enzymes and proteins and their association with economically valuable traits of black-white cattle of the western region of the Ukraine].

The structure of genetic polymorphism of the blood and milk proteins and blood enzymes was studied. It was shown that in the Western region of Ukraine Black-and-White breed cattle had seven phenotypes of transferrin, one phenotype of hemoglobin, three phenotypes of amylase, five phenotypes of alkaline phosphatase, ceruloplasmine, beta-lactoglobuline, and alpha si-caseine, and three phenotypes of beta-caseine. The effects of homo- and heterozygous levels on the heifer growth, milk production and fertility of cows were found. Complex analysis of polymorphism of blood and milk ferments and proteins gives possibility to find a closer association of genetic tests with growth, milk production, and fertility of animals of Black-and-White breed.

Animal Husbandry↗
PubMed1997

Association between genetic polymorphism of the pepsinogen C gene and gastric body ulcer: the genetic predisposition is not associated with Helicobacter pylori infection.

BACKGROUND AND AIMS: The genetic trait plays a part in the pathogenesis of peptic ulcer disease. To identify a DNA marker for peptic ulcer disease, the association between the restriction fragment length polymorphism (RFLP) of the pepsinogen C (PGC) gene and peptic ulcer disease was investigated. PATIENTS AND METHODS: One hundred and seventy seven unrelated controls, 75 patients with gastric ulcer, and 70 with duodenal ulcer were studied. PGC-RFLP was analysed by polymerase chain reaction (PCR), and the association between PGC-RFLP and peptic ulcer disease was examined. The relation between the genetic association of PGC polymorphism with peptic ulcer and Helicobacter pylori infection was also examined. RESULTS: Four alleles, 480 (allele 1), 450 (allele 2), 400 (allele 3), and 310 bp (allele 4), were detected by PCR. The frequency of allele 4 was significantly higher in patients with gastric body ulcer than in controls (chi (2) = 9.92, p < 0.005). Genotypes containing allele 4 were significantly more frequent in patients with gastric body ulcer than in controls and patients with gastric angular or antral ulcer. The relative risk of gastric body ulcer associated with the presence of allele 4, compared with its absence, was 4.63 and was statistically significant (chi (2) = 14.84, p < 0.005). There were no significant differences in the allelic frequencies between H pylori positive and H pylori negative groups in controls, patients with gastric body ulcer, or patients with gastric angular or antral ulcer. Both in H pylori negative and H pylori positive cases, there was an increased frequency of allele 4 in patients with gastric body ulcer compared with controls. CONCLUSIONS: These results suggest that there is a significant association between this genetic polymorphism at the PGC gene locus and gastric body ulcer. There are differences in the genetic aetiology between gastric body ulcer and gastric angular or antral ulcer. PGC-RFLP may be used as a genetic marker for a genetic predisposition to gastric body ulcer; this genetic predisposition is not associated with H pylori infection.

Adult↗
PubMed1986

The genetic polymorphism of sparteine metabolism.

The formation of the two major metabolites of the antiarrhythmic and oxytocic drug sparteine (2- and 5-dehydrosparteine) exhibits a genetic polymorphism. Two phenotypes, extensive (EM) and poor metabolizers (PM) are observed in the population. The frequency of the PM phenotype in various populations (Caucasian and Japanese) ranges from 2.3 to 9%. The metabolism of sparteine is determined by two allelic genes at a single gene locus. PM subjects are homozygous for an autosomal recessive gene. The metabolism of sparteine is predominantly under genetic control as treatment with drugs such as antipyrine and rifampicin known to induce oxidative drug metabolism elicited only marginal changes in sparteine metabolism. The formation of 2-dehydrosparteine in human liver microsomes from EM and PM subjects showed a more than 40-fold difference in Km between EM and PM subjects. However, Vmax-values were almost identical in both groups. These data indicate that the basis of the differences in oxidative capacity between EM and PM subjects is more likely to be due to a variant isozyme with defective catalytic properties than to a decreased amount of the isozyme.

Animals↗
PubMed2005

Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia.

Genetic variations in cardiac ion channels have been implicated not only as the causes of inherited arrhythmic syndromes, but also as genetic risk factors for some acquired arrhythmias. To elucidate the potential roles of genetic polymorphisms of the alpha subunit of the voltage-gated sodium channel type V (SCN5A) in cardiac rhythm disturbance, the entire SCN5A coding exons and their flanking introns were sequenced in 166 Japanese arrhythmic patients and 232 healthy controls. We detected 69 genetic variations, including 54 novel ones. Out of the 12 novel nonsynonymous single nucleotide polymorphisms (SNPs), p.Leu1988Arg was found at a frequency of 0.015. The other 11 SNPs were rare (0.001), with 6 found in arrhythmic patients and 5 in healthy controls. The frequency of a novel intronic SNP, c.703+130G>A, was significantly higher in the patients than in the controls, suggesting this SNP is associated with an unknown risk factor for arrhythmia. Following linkage disequilibrium analysis, the haplotype structure of SCN5A was inferred using high-frequency SNPs. The frequency of the haplotype harbouring both p.Leu1988Arg and the common SNP p.His558Arg (haplotype GG) was significantly lower in the patients than in the controls. This finding suggests that this haplotype (GG) might have been positively selected in the controls because of its protective effect against arrhythmias. This study provides fundamental information necessary to elucidate the effect of genetic variations in SCN5A on channel function and cardiac rhythm in Japanese, and probably in the Asian population.

Arrhythmias, Cardiac↗
PubMed2006

[hPARP1 genetic polymorphism in southern Chinese Han and Miao populations].

OBJECTIVE: To study hPARP1 genetic polymorphism in southern Chinese Han and Miao populations. METHODS: Blood samples from 187 and 210 southern healthy Han and Miao populations were collected. The mutations of exons 12,13,16 and 17 of hPARP1 gene were investigated by PCR-single-strand conformation polymorphism(SSCP). RESULTS: Fragments of 253 bp,313 bp,175 bp,362 bp within exons 12,13,16 and 17 respectively of hPARP1 gene were amplified by multiple PCR. An SSCP variant in exons 12,13,16 and 17 of PARP1 gene in 187 healthy Han and 210 healthy Miao individuals was identified. Seven single-base substitutions compared with the sequence of PARP1 gene were identified: a T to C transition in exon 12 (Phe548Ser), a G to T transition in exon 13 (Ala683Ser), a G to T transition in exon 16 (Asp798Tyr), and a A to G transition in exon 17 (His808Arg). CONCLUSION: There were polymorphism sites in exons 12,13,16,17 of hPARP1 gene in southern Chinese Han and Miao populations; these results may be useful for the establishment of PARP1 genotyping, and these newly described PARP1 alleles would be advantageous indicators for population studies.

Adult↗
PubMed1984

Genetic polymorphism and linkage of the sixth and seventh complement components (C6 and C7) in the common marmoset.

Using polyacrylamide gel isoelectric focusing and standard specific hemolytic detection methods, genetic polymorphisms have been found in the sixth and seventh complement components (C6 and C7) in two laboratory groups of Common marmosets. The C6 locus is highly variable and the products of six alleles were observed; three C7 alleles were found. Comprehensive breeding data indicated that both sets of alleles are inherited in an autosomal codominant manner. Many of the C6 variants differed only by a minute charge interval. The C7 variant bands differed by large charge intervals and could only be clearly seen in plasmas that had been preincubated with neuraminidase. A linkage analysis of C6 and C7 phenotypes in three, two-generation families gives reasonable evidence that the two loci are linked in marmosets as they are in humans.

Alleles↗
PubMed2004

Genetic polymorphisms and retinopathy of prematurity.

PURPOSE: Retinopathy of prematurity (ROP) is a major problem among very preterm survivors of neonatal intensive care. Neovascularization of the retina is prominent in the proliferative stages of ROP and is under the control of several factors such as vascular endothelial growth factor (VEGF). This study was undertaken on the hypothesis that genetic polymorphisms of VEGF, transforming growth factor (TGF)-beta1, and tumor necrosis factor (TNF)-alpha would occur more frequently in preterm infants with progressive ROP than in those with mild or no disease. METHODS: The frequencies of VEGF -634 G-->C, VEGF *936 C-->T, TNF-alpha -308 G-->A, and TGF-beta -509 C-->T were determined in DNA from 91 infants who had received treatment for threshold ROP and 97 comparison infants. RESULTS: The frequencies of the VEGF *936 C-->T, TNF-alpha -308 G-->A and TGF-beta -509 C-->T polymorphisms were similar in both groups. The distribution of alleles at VEGF -634 was significantly different between the two groups (P = 0.03). Homozygotes for the G allele, associated with higher VEGF production were twice as likely to have threshold ROP. CONCLUSIONS: The progression of ROP to threshold ROP in very preterm infants may be influenced by genetic differences in VEGF production. Future efforts at prevention of threshold ROP may be directed toward blocking excess production of VEGF.

Genotype↗
PubMed1997

Significance of interleukin-1beta and interleukin-1 receptor antagonist genetic polymorphism in inflammatory bowel diseases.

OBJECTIVE: Genetic susceptibility to inflammatory bowel disease is well recognized. There is also increasing evidence for the activation of the mucosal immune system and the production of inflammatory cytokines, i.e., interleukin (IL)-1ra and IL-1beta in the inflammatory bowel disease. The aim of this study was to analyze the IL-1beta and IL-1ra gene polymorphism and linkage disequilibrium coefficient between the different alleles of these genes in patients with Crohn's disease (CD) or ulcerative colitis (UC), according to the severity of the disease. METHODS: Two hundred twenty-eight inflammatory bowel disease patients (87 UC and 141 CD) were included in this study and compared with 113 unrelated controls. The IL-1beta and IL-1ra gene polymorphism was studied after specific amplification of variable regions by PCR. A penta-allelic polymorphism, corresponding to a VNTR region located in intron 2 of the IL-1ra gene, was analyzed, whereas bi-allelic RFLPs displayed by two restriction enzymes (TaqI and AvaI) at position -511 of the IL-1beta gene were analyzed. RESULTS: There was no significant difference of genotype distribution between controls and CD or UC patients. However, surgically treated UC patients were characterized by a higher frequency of genotype IL-1ra 1-2 (39 vs 16%, pc < 0.01) compared with nonoperated UC patients. Moreover, nonoperated UC patients displayed a lower frequency of IL-1ra allele 2 than surgically treated UC patients (14 vs 34%, pc < 0.002) or controls (14 vs 30%, pc < 0.005). Furthermore, simultaneous analysis of the IL-1beta and IL-1ra genes that are located in the same region of chromosome 2 revealed that CD patients carrying the IL-1beta allele 2 were more often noncarriers of IL-1ra allele 2 (p < 0.005). Moreover, UC and CD patients were, characterized by a lower frequency of the association of IL-1ra allele 2 and IL-1beta allele 2 compared with controls (8.3 vs 20.3% and 10.6 vs 20.3%, p < 0.03). CONCLUSIONS: IL-1ra and IL-1beta gene polymorphism analysis from a clinical standpoint might help in defining UC prognosis. However, functional studies at both the circulating and mucosal level with stratification on allele associations, especially IL-1ra allele 2-IL-1beta allele 2 subgroups must be realized before therapeutic implications.

Adult↗
PubMed1986

A genetic polymorphism of the complement component factor B in chickens not linked to the major histocompatibility complex (MHC).

The complement component factor B in chickens exhibits a genetic polymorphism with three common phenotypes, F, F/S, and S. These phenotypes segregate in flocks of chickens homozygous for the MHC (B complex) of the chicken. Furthermore, a genetic analysis has shown that the described factor B polymorphism is not linked to the B complex. It is not known whether the molecular basis for this polymorphism is due to the existence of allelic forms of the structural gene or to some posttranslational modifications, but the finding is discussed in view of the close linkage of factor B polymorphism with the MHC of all mammalian species investigated so far.

Animals↗