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PubMed1999

Angiotensin I converting enzyme gene polymorphism and insulin resistance in patients with angina pectoris.

The association between insertion/deletion polymorphism of the angiotensin I converting enzyme (ACE) gene and insulin resistance (IR) was investigated in 64 consecutive patients (F/M: 11/53) with angina pectoris without clinically manifest diabetes mellitus who underwent diagnostic coronary angiography. The observed frequency distribution of ACE genotypes did not deviate from that predicted from the Hardy-Weinberg equilibrium in this group. Patients with the ACE-ID genotype had significantly lower IR, as assessed by an oral glucose tolerance test (OGTT) and by homeostatic model assessment (HOMA), compared to those with the ACE-II genotype, as assessed by a multiple comparison analysis. Patients were divided into two groups with low and high HOMA-IR, and the I allele was seen more frequently in the high HOMA-IR group than in the low HOMA-IR group (0.62 v 0.47, respectively, by chi2 test, P < .05). Logistic regression analysis showed that the odds ratio for insulin resistance in patients with the II genotype, compared to those with the ID and DD-genotypes (assuming that the I allele has a recessive effect), was 4.0 (95% confidence interval, 1.2 to 16.5; P = .037), after adjusting for the presence of significant coronary atherosclerosis. In conclusion, the D allele was not associated with higher insulin resistance in patients with angina pectoris; that is, patients with the ID and DD genotypes were associated with a significantly lower risk of insulin resistance, compared to those with the II genotype.

Aged↗

PubMed2001

Rainbow trout offspring with different resistance to viral haemorrhagic septicaemia.

To study immunological and immunogenetical parameters related to resistance against viral haemorrhagic septicaemia (VHS), attempts to make gynogenetic strains of rainbow trout selected for high and low resistance to VHS were initiated in 1988. The first gynogenetic generation of inbreeding resulted in the more resistant offspring E8 and the low resistance offspring K3; the K3 offspring having the same high mortality as the susceptible reference strain of outbred trout in infection trials. A second gynogenetic generation derived from the E8 strain resulted in some low resistance offspring, and two gynogenetic families in which all, or nearly all, fish survived challenge with VHS virus. In this study, an attempt to associate the distribution of different MHC class II genotypes with low and high resistance gynogenetic offspring was performed. Two different MHC haplotypes could be distinguished, and in both low and high resistance families all three genotypes were found, which could be explained by the fact that the mother fish carried the heterozygous genotype. Although no significant differences in MHC II genotypes were found between the high and low resistance offspring, a significantly different distribution of haplotypes in the low resistance offspring was observed, that could not be explained by a one- or two-locus model.

Animals↗

PubMed1997

Angiotensin-converting enzyme gene polymorphism adds risk for the severity of coronary atherosclerosis in smokers.

To investigate the relation between the angiotensin-converting enzyme (ACE) gene polymorphism and acute coronary syndromes with respect to environmental factors, we analyzed the association of genotype with the coronary angiographic findings of patients with acute myocardial infarction or unstable angina pectoris, and we examined the linkage of each genotype with established risk factors for coronary artery disease. We determined the ACE genotype in 152 Japanese patients with acute coronary syndromes and 399 healthy individuals. The genotype distributions were not different between the two groups (P=.74, chi2 test). In the former group, coronary angiograms were evaluated by criteria based on the number of diseased vessels, the number of stenotic lesions (> or = 50%), and the relative abnormal arterial portion (extent index). Although the number of stenotic lesions was higher in patients with the DD genotype than in those with the ID or II genotype (P=.006), there were no differences in the number of diseased vessels or the extent index. When only smokers were analyzed, the number of diseased vessels (P=.032), number of stenotic lesions (P=.003), and extent index (P=.019) were all higher in patients with the DD genotype than in those with the ID or II genotype. In contrast, these differences in the respective parameters did not exist in nonsmokers. The results indicate smoking-associated effects of the ACE genotype on the severity of coronary atherosclerosis.

Coronary Artery Disease↗

PubMedDate not supplied

[ACE gene polymorphism correlation (I/D) with the ventricular function in patients with ischemic and idiopathic dilated cardiomyopathy].

UNLABELLED: Dilated cardiomyopathy is a myocardial disease, characterized by biventricular expansion. Renin-angiotensin-aldosterone system (RAAS) is closely related with the progress of this pathology. Has been shown that angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism influences as much in the plasmatic concentration as in activity of ACE. In addition, ACE IID polymorphism has been associated with remodeling phenomena and an increased risk to develop several cardiovascular diseases. On virtue of the influence of ACE gene polymorphism on RAAS, we studied the correlation between ACE I/D polymorphism with morphologic and functional clinical alterations in ischemic or idiopathic dilated cardiomyopathy in one attempt to establish its utility as prognosis factor. METHODS AND RESULTS: We studied 30 patients of The National Institute of Cardiology. Ventricular function was evaluated by transthoracic echocardiography. ACE genotype was determined by polymerase chain reaction (PCR). Results for left ventricle shown: Tei Index was increased in patients with II genotype (0.84 vs. 0.48) when were compared to patients with DD genotype p < 0.01. Eccentricity Index was lesser in the group with II genotype (0.64), than in the group DD (0.86) p < 0.01. Ventricular mass was increased in DD patients when was compared with II group (174 g vs. 133 g) Isovolumetric contraction time was shorter in group DD than in II (45 mseg vs. 139 mseg) p < 0.05. These findings denote better preservation of left ventricular function in patients with DD genotype. In opposition, right ventricle shown an increased Tei Index in the group with DD genotype (1.01) when was compared with II genotype (0.55), p < 0.05. Pulmonary artery systolic pressure tended to be higher in DD genotype group without reach statistic significance. CONCLUSIONS: In our group of study, patients with DD genotype shown better left ventricular function in ischemic or idiopathic dilated cardiomyopathy. On the opposite right ventricular function were more deteriorated in patients with ACE DD genotype.

Cardiomyopathy, Dilated↗

PubMed2002

Angiotensin-converting enzyme gene polymorphism and its association with essential hypertension in a Tibetan population.

There is strong evidence to support the idea that the renin-angiotensin system (RAS) plays an important role in the pathogenesis of essential hypertension (EH) and its complications. However, existing data about the association of angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism with blood pressure is conflicting, mainly due to racial differences and environmental exposure status. We therefore conducted a case control study to observe the relationship between ACE I/D polymorphism and EH in a Tibetan population who live in relatively isolated areas and are genetically homogeneous. The study was conducted at stable residential communities in the urban district of Lhasa, the capital of the Tibet autonomous region, China, and 106 unrelated EH patients and 135 normotensIve subjects were recruited. PCR, PCR/RFLP and PCR-SSCP were carried out to study the association between RAS genes and EH. Frequencies for the DD, ID and II genotypes were 27, 47 and 29 in hypertensive subjects, and 15, 60 and 48 in normotensive subjects, respectively. Derived allele frequencies for the I and D alleles were 0.51 and 0.49 in hypertensive subjects and 0.64 and 0.36 in normotensive subjects. There were significant differences in genotype distribution and derived allele frequency between these two groups. The genotype and allele frequencies of the ACE gene differed significantly between hypertensive and normotensive females (p>0.05), but there were no differences in males. In females, the DBP and MAP level were significantly higher for the DD than for the ID and II genotype, and SBP was significantly higher for the DD than for the II genotype. But in males, there were no significant differences in blood pressure among ACE genotypes. The results showed a significant association between the D allele of the ACE gene and hypertension in Tibetan women but not in Tibetan men.

Adult↗

PubMed2006

Occurrence of Cryptosporidium and Giardia in suckling piglets in Norway.

Faecal samples from 684 litters of suckling piglets from 100 indoor swine herds from all regions of Norway were examined for the presence of Cryptosporidium and Giardia, using sucrose gradient flotation concentration and immunofluorescent staining. Thirty-one (31%) herds and 57 (8.3%) litters tested positive for Cryptosporidium, while 10 (1.5%) litters in 10 different herds (10%) tested positive for Giardia. Molecular characterisation of nine Cryptosporidium isolates demonstrated both C. suis and Cryptosporidium sp. pig genotype II. There was significantly more diarrhoea among the Cryptosporidium positive piglets than among the Cryptosporidium negative piglets. Diarrhoea was not observed amongst litters in which Cryptosporidium sp. pig genotype II was found. There was a significant difference in the Cryptosporidium prevalence between litters from different geographical areas of Norway. This study demonstrates that both Cryptosporidium (C. suis and Cryptosporidium sp. pig genotype II) and Giardia infections are prevalent among suckling piglets in Norway.

Animals↗

PubMed2006

Discovery, linkage disequilibrium and association analyses of polymorphisms of the immune complement inhibitor, decay-accelerating factor gene (DAF/CD55) in type 1 diabetes.

BACKGROUND: Type 1 diabetes (T1D) is a common autoimmune disease resulting from T-cell mediated destruction of pancreatic beta cells. Decay accelerating factor (DAF, CD55), a glycosylphosphatidylinositol-anchored membrane protein, is a candidate for autoimmune disease susceptibility based on its role in restricting complement activation and evidence that DAF expression modulates the phenotype of mice models for autoimmune disease. In this study, we adopt a linkage disequilibrium (LD) mapping approach to test for an association between the DAF gene and T1D. RESULTS: Initially, we used HapMap II genotype data to examine LD across the DAF region. Additional resequencing was required, identifying 16 novel polymorphisms. Combining both datasets, a LD mapping approach was adopted to test for association with T1D. Seven tag SNPs were selected and genotyped in case-control (3,523 cases and 3,817 controls) and family (725 families) collections. CONCLUSION: We obtained no evidence of association between T1D and the DAF region in two independent collections. In addition, we assessed the impact of using only HapMap II genotypes for the selection of tag SNPs and, based on this study, found that HapMap II genotypes may require additional SNP discovery for comprehensive LD mapping of some genes in common disease.

Journal Article↗

PubMed2004

Functional variant in the (alpha)2B adrenoceptor gene, a positional candidate on chromosome 2, associates with hypertension.

In a genome-wide scan in Scandinavians, we found suggestive linkage between early-onset primary hypertension and a region on chromosome 2. The alpha(2B)-adrenoceptor gene, a candidate gene within this region, harbors a functional insertion/deletion (I/D) polymorphism of three glutamate residues. The aim of this study was to investigate if the DD genotype is associated with hypertension in Swedes. We performed an association study between the I/D polymorphism of the alpha(2B)-adrenoceptor and hypertension in the Skaraborg population. The material consists of all known patients with primary hypertension in Skara (n=772 nondiabetic subjects; n=171 normoalbuminuric type 2 diabetic subjects) and 817 population control subjects. We first compared genotype frequencies between patients with early-onset hypertension (aged 50 years or younger at onset) and subjects with normotension (blood pressure <120/80 mm Hg). Thereafter, the polymorphism was tested for association with hypertension at the population level. When comparing patients with early-onset hypertension and normotensive subjects, the DD versus II genotype was associated with early-onset hypertension when diabetic subjects were excluded from the analysis (OR=2.0; 95% CI=1.2 to 3.5) or when they were not excluded (OR=1.8; 95% CI=1.0 to 3.1). At the population level, the DD versus II genotype was weakly associated with nondiabetic hypertension (OR=1.4; 95% CI=1.0 to 1.8). Our data suggest that carriers of the DD versus II genotype of the alpha(2B)-adrenoceptor are at increased risk for hypertension. The genotypic effect is most evident when comparing groups corresponding to the upper and lower tails of the blood pressure distribution in the population; however, in nondiabetic hypertensive subjects it is weakly detectable even at the population level.

Aged↗

PubMed1998

Identification of HLA-DR and -DQ alleles conferring susceptibility to pollen allergy and pollen associated food allergy.

BACKGROUND: Allergenic crossreactivity of pollen and foods due to the antigeneic similarity of oligopeptides is a well established clinical phenomenon. OBJECTIVE: To determine the immunopathological relevance of antigen presentation, we analysed the HLA class-II genotype of patients with either pollen allergy or pollen associated food allergy. METHODS: One hundred and twenty patients with pollen allergy and 80 patients with pollen associated food allergy were evaluated by skin- prick tests, RAST, and HLA class-II genotyping. The control population comprised 4251 healthy blood and bone marrow donors. RESULTS: Monovalent pollen allergy was observed in 57% (n=68) of patients with pollinosis (57x grass pollen, 11x birch pollen), but only in 15% (n=12) of patients with food allergy (9x grass pollen, 3x birch pollen). Hazelnut (71%), almond (65%), walnut (44%) and apple (41%) were the most common food allergens and frequently associated with birch pollen allergy. Grass pollen allergy was associated with an increased frequency of HLA-DQB1*0301 (RR=2.3; EF=0.4; P=0.0016) when compared with the control population. HLA-DRB *08 conferred a sixfold higher risk for peanut allergy (EF=0.3; P=0.0013) and -DRB1*12 a 13-fold higher risk for carrot allergy (EF=0.3; P<0.000001). The differences on allele frequencies detected among patients with food allergies diminished or turned statistically insignificant when their genotypes were directly compared to those of patients with the corresponding pollen allergies. This was found in the case of birch pollen associated hazel nut allergy for the extended haplotype HLA-DRB1*01, -DQA1*0101, -DQB1*0501 as well as in grass pollen associated peanut allergy for HLA-DRB1*08 (from RR=6, P=0.0013 to insignificant) and in birch pollen associated carrot allergy for HLA-DRB1*12 (from RR=13, P < 0.000001 to insignificant). CONCLUSION: We were able to identify HLA class-II alleles associated with some allergies thus indicating that these alleles might confer susceptibility to the respective allergens. Similarities at the level of the HLA class-II genotype parallel the empirical finding of distinct cross-reactivity patterns thus complementing investigations of IgE specificities. Our observations provide evidence for the major importance of antigen presentation on the manifestation of distinct crossreactivity patterns.

Alleles↗

PubMed2000

Polymorphism of the angiotensin-converting enzyme gene in end-stage renal failure patients.

The plasma levels of angiotensin-converting enzyme (ACE) are modulated by the insertion (I)/deletion (D) polymorphism within the ACE gene locus. An association between progressive renal disease, raised cardiovascular risk, and ACE plasma levels has been shown. To evaluate the genotype frequencies of the I/D polymorphism in terminal renal failure, we have enrolled 341 dialysis patients (321 on hemodialysis and 20 on peritoneal dialysis) in a district of southern Italy (Foggia). As controls, 1,307 subjects from the same area have been enrolled. Genomic DNA was obtained from leukocytes, and the ACE I/D polymorphism was determined by polymerase chain reaction. Among uremics, 151 subjects (44.3%) carried the DD genotype, 149 (43.7%) the ID, and 41 (12.0%) the II genotype. In controls, 560 subjects (42.8%) had the DD genotype, 577 (44.1%) the ID, and 170 (13.1%) the II genotype (p = n.s.). Among patients, the frequency of DD subjects was higher in men (48.3%) than in women (39. 7%, p < 0.01). A slight different frequency of the DD genotype was found according to the duration of dialysis treatment: 47.5% in patients on dialysis up to 60 months and 41.7 and 40.6% in those with a dialytic age of 60-120 and >120 months, respectively (p for trend: 0.53). Patients with or without cardiovascular diseases, such as hypertension, left ventricular hypertrophy, coronary artery disease, and chronic cardiac failure, did not exhibit any difference in ACE I/D allele and genotype frequencies (p always >0.05). In conclusion, frequencies of the ACE DD genotype were similar in uremics and in controls and did not differ between patients with and without cardiovascular diseases. A nonsignificant inverse relationship with the time spent on dialysis was observed, suggesting that ACE I/D polymorphism may influence the cardiovascular death rate.

Adolescent↗

PubMed1999

Hypertensive left ventricular remodeling and ACE-gene polymorphism.

OBJECTIVE: To evaluate the relationship between ACE-gene polymorphism and left ventricular geometry in never treated hypertensives. METHODS: We enrolled 200 hypertensive outpatients that underwent clinical and ambulatory blood pressure measurements, echocardiographic evaluation and analysis for insertion (I)/deletion (D) polymorphism by PCR. Patients with normal or increased (> 125 g/m2 in males and > 110 g/m2 in females) left ventricular mass were considered to have concentric remodeling or concentric left ventricular hypertrophy if their relative wall thickness was > or = 0.45. RESULTS: The left ventricular mass index values (g/m2) were 136 +/- 30 in DD genotype, 124 +/- 26 in ID genotype, and 116 +/- 20 in II genotype (DD vs. ID P < 0.005; DD vs. II P < 0.05), and were unrelated to blood pressure. Ninety-six patients presented left ventricular hypertrophy (48.0%): 51 with concentric and 45 with eccentric hypertrophy. The eccentric left ventricular hypertrophy was detected in 32 (36.8%) DD patients, in ten (10.5%) ID patients (P < 0.05), and in three (16.6%) II patients. The relative septal thickness was 0.43 +/- 0.09 in DD genotype, 0.45 +/- 0.08 in ID genotype, and 0.43 +/- 0.10 in II genotype. In DD and ID genotypes, the relative posterior wall thickness (0.37 +/- 0.07 vs. 0.41 +/- 0.07; P < 0.0001) and the end-diastolic left ventricular internal dimension (52.8 +/- 3.3 mm vs. 48.3 +/- 2.8 mm; P < 0.0001) were statistically different. CONCLUSIONS: The DD genotype of the ACE-gene is associated with an increased left ventricular mass and with a significantly higher prevalence of eccentric left ventricular hypertrophy, when compared to ID genotype.

Age Factors↗

PubMed2006

Angiotensin I-converting enzyme gene polymorphism modifies the smoking-cancer association: the Hisayama Study.

We examined the long-term contribution of smoking and angiotensin I-converting enzyme (ACE) gene I/D polymorphism to total cancer deaths in a prospective study of a general Japanese population. A total of 937 subjects aged 40 years or older were selected from an original cohort of 1621 subjects and were followed up for 32 years. During the follow-up period, 176 subjects died of cancer. Cancer mortality increased significantly with increasing current smoking levels. Although no clear relationship was observed between ACE genotypes and fatal cancer, the interaction term between current smoking and ACE genotype DD was found to be significant. In stratified analysis by ACE genotype after controlling for age, sex, alcohol intake, body mass index, glucose intolerance, serum total cholesterol and systolic blood pressure, the risk of fatal cancer in currently smoking subjects with genotype DD was twofold greater than that in subjects with genotypes II and ID. Among current smokers, subjects with genotype DD also showed a significantly greater risk of death due to cancer compared with those with genotypes II and ID combined (hazard ratio 1.77; 95% confidence interval 1.04-3.00; P=0.03). In conclusion, our findings suggest that ACE genotype DD enhances the association between smoking and cancer death in the general population.

Aged↗

PubMed2006

Association between angiotensin-converting enzyme gene polymorphisms and QT duration in a multiethnic population in Hawaii.

OBJECTIVES: Recent studies have suggested that heart-rate corrected QT interval (QTc) in normal populations may be influenced by genetic factors. We report findings of a study of the relationship between QTc, increased QTc (> 440 ms) and angiotensin-converting enzyme (ACE) genotype in a multiethnic, population-based study completed in rural Hawaii. METHODS: Blood samples were obtained while fasting and after an oral glucose challenge from 1452 individuals between 1997 and 2000. The clinical examination included an electrocardiogram. Medical histories, behavioral and socio-demographic information were obtained during the interview. Ethnicity was estimated by self-report. The insertion/deletion (I/D) polymorphism in intron 16 of the ACE gene was determined by polymerase chain reaction (PCR) from a random sample of 588 participants. Multiple linear and logistic regression was used to test for associations between QTc and ACE gene polymorphisms. RESULTS: The overall crude prevalence of increased QTc was 21.2%. The prevalence of increased QTc was lowest among those with ACE DD genotype, and highest among those with ACE insertion/insertion (II) genotype. The adjusted odds ratio for increased QTc was 2.29 (95% CI 1.02-5.12) and 3.61 (95% CI 1.60-8.13) for ID and II genotypes, respectively, compared to the DD genotype. The test for trend was highly significant (p < 0.001). CONCLUSIONS: The ACE insertion allele was associated with increased prevalence of prolonged QTc independent of ethnicity, age, gender, and BMI. These findings may implicate the ACE gene as an important genetic risk factor for cardiovascular disease morbidity and mortality.

Adult↗

PubMed2006

Genetic polymorphism of the angiotensin converting enzyme and L-dopa-induced adverse effects in Parkinson's disease.

There was increasing evidence suggesting that angiotensin I-converting enzyme may play an important role in the pathogenesis of PD. Our former study has shown that angiotensin I-converting enzyme gene (ACE) may confer a susceptibility for the risk of Parkinson's disease (PD). Meanwhile, recent studies have emphasized that genetic factors may involve in the occurrence of the adverse effects of chronic L-dopa therapy in PD patients. This study was designed to assess whether genetic polymorphism of the ACE could be a predictor of L-dopa-induced adverse effects in PD. There were 251 patients included in this study and their mean age at onset of disease was 63.3+/-11.4 years. The duration of disease and the treatment with L-dopa was 6.3+/-5.1 and 5.0+/-4.3 years, respectively. The frequency of the homozygote ACE-II genotype of the ACE in PD patients with L-dopa-induced psychosis was significantly higher than that in PD patients without the adverse effect (63.3% vs 43.0%; chi(2)=6.347, OR=1.435, 95%CI=1.105-1.864, p=0.012). However, the ACE polymorphism was not associated with the risk to develop dyskinesia or motor fluctuation induced by L-dopa. Furthermore, a logistic regression analysis confirmed that the ACE-II genotype was an independent risk factor for L-dopa-induced psychosis in PD patients (OR=2.542, p=0.012). In conclusion, results of the study showed that ACE-II genotype might confer a primary predictor for the occurrence of psychosis in L-dopa-treated PD.

Adult↗

PubMed2005

[I/D-polymorphism of ACE gene, morphofunctional heart condition and blood pressure 24-h profile in young men with arterial hypertension].

AIM: To study the effects of ACE gene polymorphism on morphofunctional condition of the heart and 24-h blood pressure profile (BPP) in young men with hypertension. MATERIAL AND METHODS: A total of 174 young and middle-aged hypertensive men (mean age 32 +/- 4.6 years and 48 +/- 3.1 years, respectively) were examined (echocardiography, 24-h BP monitoring, tests for I/D-polymorphism of ACE gene). RESULTS: Genotype ID appeared most prevalent both in the young and middle-aged examinees (56 and 49%, respectively). Interventricular septal thickness and left ventricular myocardial mass were the largest in young hypertensive patients carrying genotype DD. Mean 24-h and nocturnal diastolic BP was significantly higher in young hypertensive patients with genotype II vs middle-aged patients with the same genotype. Carriers of genotype II had maximal variability of systolic and pulse blood pressure. CONCLUSION: Genotype DD appeared most unfavourable in relation to left ventricular myocardial hypertrophy. Its carriers had the thickest right ventricular myocardium, the largest mass of the left ventricle. Homozygotes by allele-I had most pronounced changes in a 24-h BP profile.

Adult↗

PubMed2003

Homozygous and double heterozygous Factor V Leiden and Factor II G20210A genotypes predispose infants to thromboembolism but are not associated with an increase of foetal loss.

Prospective and controlled data about the individual risk profile in asymptomatic children with homozygous or double heterozygous risk genotypes for Factor V Leiden (FVL) and factor II (FII) G20210A are currently unavailable. The systematic and prospective observational study presented here was designed to determine the impact of the homozygous and double heterozygous FVL and FII G20210A genotypes on the prenatal and postnatal risk profiles of affected children. Risk infants and heterozygous controls were identified by screening of 85,304 neonates. Follow-up included the comparison of prenatal and postnatal development, ultrasonography of brain and kidneys, and a panel of independent determinants of thrombophilia. The numbers of identified or expected FVL homozygotes and double heterozygotes did not differ significantly (FVL: 116 versus 91, p=0.08; FVL/FII: 94 versus 76, p=0.17), indicating the absence of a prenatal disadvantage. A prenatal advantage was suggested in FII homozygotes, whose identified number far exceeded the expected (19 versus 4, p=0.002). Clinical and/or imaging abnormalities indicated spontaneous thromboembolic events in 4 of 129 risk infants (3%) but in none of the 178 controls (p=0.02). Physical and neurological development was normal in both groups during the first 2 years of life. The risk genotypes appear to confer a significant predisposition for spontaneous thromboembolic events in infancy without impeding development within the first two years of life. Foetal risk genotypes do not cause an increased foetal loss rate. Moreover, homozygous FII G20210A appears to be associated with a prenatal advantage.

Factor V↗

PubMed2005

Influence of porcine coat colour genotypes on haematological parameters, piglet birth weight and body weight gain until weaning.

Two F2 generations of an intercross between Hampshire boars and Hungarian Large White sows were produced to estimate the effects of the porcine KIT genotypes (II, Ii and ii) on quantitative and qualitative haematological indices, on piglet birth weight and growth performance until weaning. Piglets carrying the I allele had significantly fewer lymphocytes (p = 0.041) than the ii homozygotes, heterozygotes had measures between the two homozygotes. KIT genotypes did not influence white blood cells, red blood cells, haemoglobin and haematocrite. II genotype piglets were significantly lighter at birth than the ones carrying the recessive i allele, the effect of KIT genotypes on gain until weaning was not significant, but II piglets tended to gain less. The results of this study support the hypothesis of M. Johansson, H. Ellegren, L. Marklund, U. Gustavsson, E. Ringmar-Cederberg, K. Andersson, I. Edfors-Lilja and L. Andersson [(1992) Genomics, 14, 965] that the pleiotrophic effect of the porcine KIT mutations on haematopoietic cells must be mild.

Animals↗

PubMedDate not supplied

Molecular genotyping of human cryptosporidiosis in Northern Ireland: epidemiological aspects and review.

BACKGROUND: Cryptosporidium parvum is the most common of the protozoal pathogens associated with gastrointestinal disease in Northern Ireland. Genotyping techniques are valuable in helping to elucidate sources and modes of transmission of this parasite. There have been no reports on the prevalence of genotypes in Northern Ireland, mainly due to a lack of discriminatory genotyping techniques, which recently have become available. AIM: To investigate the genotype of C. parvum oocysts isolated from human faeces in sporadic cases of cryptosporidiosis in Northern Ireland. METHODS: Thirty-nine isolates of C. parvum, representing 79.6% of the total 1998 laboratory reports for the Eastern Health and Social Services Board, were investigated. Following DNA extraction from oocysts the thrombospondin-related adhesive protein 2 (TRAP-C2) locus was amplified by polymerase chain reaction (PCR) and subsequently sequenced. RESULTS: The majority of isolates (87.2%) were classified as bovine genotype II with the remainder (12.8%) being the human genotype I. CONCLUSIONS: There is a high prevalence of the bovine genotype II parasite in sporadic cases around the greater Belfast area. Epidemiologically, this suggests that the most frequent mode of transmission may be from animals to humans, but does not suggest a high proportion of human to human spread.

Adolescent↗