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PubMed2000

Impact of interleukin-1 receptor antagonist and tumor necrosis factor-alpha gene polymorphism on IgA nephropathy.

BACKGROUND: It is evident that cytokines play an important role in the pathogenesis as well as disease progression in IgA nephropathy (IgAN). The level of cytokine production is influenced by different genotypes that reflect gene polymorphism of the pertinent cytokine. Interleukin-1 receptor antagonist (IL-1ra) and tumor necrosis factor-alpha (TNF-alpha) gene polymorphism have been found to affect disease susceptibility and activity in several inflammatory diseases. However, the impact of these polymorphisms in IgAN patients has not previously been thoroughly studied. METHODS: We investigated 111 cases of biopsy-proven IgAN and 100 healthy, normal controls for their IL-1ra and TNF-alpha gene polymorphism. IL-1ra gene polymorphism was characterized as a variable number of tandem repeats of a 86 bp sequence within intron 2. Five alleles were identified and were designated as IL1RN*1, IL1RN*2, IL1RN*3, IL1RN*4, and IL1RN*5, corresponding to 4, 2, 5, 3, 6 repeats, respectively. A polymorphism in the promoter region of the TNF-alpha gene was also studied. This polymorphism involved a guanidine to adenosine transition at position -308 and was designated as TNF1 (-308G) and TNF2 (-308A). RESULTS: There were 54 male and 57 female patients with a mean age of 30.3 +/- 12.5 years and a disease duration of 66. 8 +/- 47.2 months. The mean duration of the follow-up period was 47. 3 +/- 32.6 months. In the patient group, the allele frequencies of IL1RN*1, IL1RN*2, IL1RN*3, IL1RN*4, and IL1RN*5 were 89.6%, 9.9%, 0%, 0.5%, and 0%, respectively, whereas the corresponding carriage rates were 100%, 19.8%, 0%, 0.9%, and 0%, respectively. An excessive carriage of IL2RN*2 was found in the patients when compared with normal controls (allele frequency, 9.9 vs. 2.5%, P < 0.0001). The allele frequencies of TNF1 and TNF2 were 94.1 and 5.9%, respectively, and the carriage rates were 99.1 and 10.8%, respectively, in the patients, which was not significantly different from those of normal controls. When the patients were stratified into mild and severe groups according to their initial presentation, none of the studied alleles correlated with the severity. However, patients with gross hematuria were associated with a higher carriage rate of TNF2 when compared with patients without gross hematuria (allele frequency, 15. 4 vs. 4.6%, P = 0.0552; carriage rate, 30.8% vs. 8.2%, P = 0.0272). Renal survival analysis revealed that the TNF2 carrier had a renal survival comparable with TNF2 (-) patients. However, the carriage of the IL1RN*2 allele was associated with a significantly poorer long-term outcome with a median survival time of 72 months, as compared with those without IL1RN*2 (134 months, P < 0.01). CONCLUSION: IL-1ra and TNF-alpha gene polymorphism may affect disease susceptibility as well as disease activity and long-term outcome in human IgAN. Treatment with an IL-1ra or IL-1 blocking agent may be relevant in those carrying the IL1RN*2 allele.

Adolescent↗

PubMedDate not supplied

Joint effect of G1691A factor V point mutation and factor VII Arg/Gln(353) gene polymorphism on the risk of premature coronary artery disease.

The study sought an association between the G1691A factor V point mutation and factor VII Arg/Gln(353) gene polymorphism and premature coronary artery disease (CAD), and the interactive effect on CAD risk between the G1691A factor V point mutation and factor VII Arg/Gln(353) gene polymorphism as well as between tested polymorphisms and traditional risk factors. 167 patients with CAD younger than 55 years were compared with 132 healthy subjects. The frequency of factor V point mutation was 7.8 % among Slovene patients with premature CAD, and 4.5 % among controls. No association was found between either the factor V point mutation (AG genotype) or M1M1 genotype of factor VII Arg/Gln(353) gene polymorphism and the risk of CAD in Slovenia using univariate analysis (factor V point mutation: OR = 1.8, 95% CI = 0.7-4.9; p = 0.25; factor VII Arg/Gln(353) gene polymorphism: OR = 1, 95 % CI = 0.6-1.7; p = 0.9). However, a joint effect on the risk of CAD was found between factor V point mutation (AG genotype) and M1M1 genotype (OR = 3.6, 95 % CI = 1-12.9; p = 0.03). Additionally, an interactive effect on CAD risk was found between AG genotype and metabolic risk factors (OR = 3.8, 95% CI = 1.1-13.6; p = 0.03). In conclusion, we provide evidence for a joint effect on CAD risk between G1691A factor V point mutation and factor VII Arg/Gln(353) gene polymorphism as well as between factor V point mutation and metabolic risk factors.

Age of Onset↗

PubMed2004

Cytokine gene polymorphism and early graft rejection in liver transplant recipients.

Cytokines, which play important roles in allograft rejection, show variable production among individuals. These variations may be related to genetic polymorphisms within the regulatory regions of the cytokine genes. We investigated the association between the role tumor necrosis factor alpha (TNF-alpha), transforming growth factor-beta (TGF-beta), interferon gamma (IFN-gamma), interleukin (IL)-10 and IL-6 gene polymorphisms and early graft rejection among liver transplant recipients. Forty-three liver transplant recipients enrolled in this study were divided into 2 groups based on events in the first 2 months posttransplantations, namely, those experiencing at least 1 rejection episode (n = 26) or those without any episode (n = 17). The allele or genotype frequencies of cytokine gene polymorphisms showed no difference between liver recipients with or without nonrejection. In conclusion, there was no significant correlation between early graft rejection and cytokine gene polymorphism of TNF-alpha, TGF-beta, IL-10, IL-6, and IFN-gamma in liver transplant recipients.

Adolescent↗

PubMed2001

[Influence of cytokine gene polymorphism on renal transplantation].

OBJECTIVE: To investigate the influence of cytokine gene polymorphism on renal transplantation. METHODS: The cytokine genotypes of cytokines TNF-alpha, IL-10, TGF-beta(1), and L-6 among 91 consecutive kidney recipients were detected by PCR-SSP. The distribution frequencies of different cytokine genotypes and the influence of cytokine gene polymorphism on renal transplantation were analyzed. RESULTS: Among the 91 renal recipients, the dominant genotypes of IL-10 and TNF-alpha were low producer genotype with the frequencies of 90.1% and 79.1% respectively; and the dominant genotypes of TGF-beta(1) and IL-6 were high producer genotypes (79.1% and 100% respectively). The kidney recipients with TNF-alpha high producer genotype and IL-10 high or intermediate producer genotype were associated with more acute rejection episodes than those with low producer genotypes. The acute rejection episodes in the kidney recipients with IL-10 high or intermediate producer genotype were mainly vascular acute rejection. CONCLUSION: The cytokine gene polymorphism has significant influence on incidence and severity of acute rejection after renal transplantation. Detecting the cytokine genotype before renal transplantation is beneficial to predict the outcome of transplantation accurately.

Adolescent↗

PubMed2002

Correlation between angiotensin II type 1 receptor gene polymorphism and type 2 diabetes mellitus complicated by hypertension.

OBJECTIVE: To elucidate the correlation between angiotensin II type 1 receptor (AT1R) gene polymorphism and type 2 diabetes mellitus (T2DM) complicated by hypertension. METHODS: AT1R gene polymorphism was determined by PCR in 132 T2DM patients complicated by hypertension and 107 normotensive T2DM patients. RESULTS: The frequencies of AA and AC genotypes in the 2 groups were 88.79% vs 96.97% and 11.21% vs 3.03% respectively, and those for A and C allele were 94.39% vs 98.48% and 5.61% vs 1.51%, showing significant difference between the 2 groups (P<0.05). It was suggested that AT1R gene polymorphism was associated with T2DM complicated by hypertension, and the patients had significantly prolonged courses of DM when complicated by hypertension. Normotensive DM patients did not differ from DM patients with only elevated diastolic blood pressure in terms of AT1R-A1166-C gene polymorphism, but showed significant difference from DM patients with elevated systolic blood pressure. CONCLUSION: AT1R gene contributed to T2DM complicated by hypertension, but is only associated with cases of elevated systolic blood pressure.

Adult↗

PubMed1997

Clonal analysis and identification of epidemic strains of methicillin-resistant Staphylococcus aureus by antibiotyping and determination of protein A gene and coagulase gene polymorphisms.

Forty-three methicillin-resistant Staphylococcus aureus (MRSA) isolates with known genetic and epidemiological relatedness and different degrees of transmission were analyzed by antibiotyping, protein A gene polymorphism analysis, and coagulase gene polymorphism analysis. The three typing systems were evaluated for their performance and convenience to define clones and to discriminate between epidemic MRSA (EMRSA) and sporadic MRSA (SMRSA). Antibiotyping and AluI restriction fragment length polymorphism analysis of the coagulase gene were able to define clones in the same way as DNA macrorestriction analysis (SmaI). However, both techniques presented disadvantages, making neither of them useful as a single typing method. Protein A gene polymorphism analysis appeared to be of no value for clonal analysis. None of the three typing methods was able to differentiate between EMRSA and SMRSA.

Bacterial Typing Techniques↗

PubMed2001

CTLA-4 gene polymorphism in promoter and exon-1 regions in Chinese patients with systemic lupus erythematosus.

Cytotoxic T lymphocyte associated antigen 4 (CTLA-4), a structural homologue of CD28, has been reported to be an important negative regulator of autoimmune diseases. Recent studies showed that CTLA-4 gene polymorphism was associated with several kinds of human autoimmune diseases, suggesting that CTLA-4 gene is probably a general susceptibility gene to autoimmune disease. The present study was conducted in Chinese to determine whether there is any association of the CTLA-4 gene polymorphism with the development of systemic lupus erythematosus (SLE). CTLA-4 gene polymorphism in promoter and exon 1 was detected by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method in 81 patients with SLE and 81 normal controls. The results showed that there were no statistically significant differences in both exon 1 and promoter gene polymorphism between SLE patients and normal controls. The preliminary study does not suggest an association of the known polymorphism in exon 1 and promoter of CTLA-4 gene with Chinese SLE. However, SLE is a very heterogeneous syndrome and CTLA-4 gene polymorphism might correlate with some specific clinical features. To exploring this possibility, subgroup analysis in more patients needs to be performed.

Abatacept↗

PubMed2003

[A cross-sectional study on angiotensin-converting enzyme and angiotensin II type I receptor gene polymorphism and cerebral infarction].

OBJECTIVE: To explore the relation of angiotensin-converting enzyme (ACE) gene polymorphism, angiotensin II type I receptor (ATIR) gene polymorphism and other factors on cerebral infarction. METHODS: One thousand three hundred fifty-one subjects from Tangshan coalmine were enrolled with study method of cluster sampling. Face to face interviews were conducted to fill in questionnaires by trained interviewers. ACE gene, ATIR gene and inflammation factors including tumor necrosis factor-alpha (TNF-alpha), interleukin-6 (IL-6), IL-8, IL-10, C reactive protein (CRP), fibrinogen (Fg), fibrin monome polymerized velocity (FMPV), absorbance maximum (A(max)), FMPV/A(max), were measured. RESULTS: No different prevalence rates of ACE genotype were found on cerebral infarction. The distributions of AA genotype of ATIR gene in the cerebral infarction was higher than that of the controls. The prevalence of AA genotype was higher than other groups, but the prevalence of combined genotype did not show much difference. Under the existence of factors that related to cerebral infarction, AA genotype frequencies were higher than those of non-smoking and with hypertension. IL-6, ATIR gene polymorphism, sex, FMPV/A(max) were strongly related to cerebral infarction. The level of IL-6 was higher than the normal ones. CONCLUSIONS: The prevalence of cerebral infarction obviously increased in the hypertensive groups having AA genotype of ATIR gene. In the cerebral infarction groups, the level of IL-6 was higher than that in the normal population, indicating that these can be resulted from local inflammation and immunity reactivity. Environmental and genetic factors in the pathogenesis of cerebral infarction might have coordinating functions.

Aged↗

PubMed2001

[The study of PAI-1 promotor region gene polymorphism in cerebrovascular disease].

OBJECTIVE: To investigate the relationship between the plasminogen activator inhibitor-1(PAI-1) gene polymorphism and cerebrovascular disease and detect whether it plays an important role in the pathogenesis of cerebrovascular disease. METHODS: Peripheral blood leukocytes samples were collected from 60 normal controls, 65 patients with acute cerebral infarction (CI) and 31 hypertensives complicated with cerebral hemorrhage. The 4G/5G allele polymorphism in the PAI-1 gene promotor region of the leukocytes was genotyped by polymerase chain reaction. The plasma PAI-1 activity was assayed by ELISA. RESULTS: The plasma PAI-1 activity level in the CI group was significantly higher than those in the other two groups. PAI-1 level in 4G allele homozygous genotype was significantly higher than the PAI-1 levels in 4G/5G heterozygous and 5G homozygous. Although PAI-1 level was higher in 4G/5G heterozygous genotype than in 5G homozygous, the difference was not statistically significant. There were significant differences between acute cerebral infarction PAI-1 gene polymorphism and controls (P<0.05), and the frequencies of 4G/4G genotype in patients with acute cerebral infarction (43.08%) were higher than those in normal controls (20.00%, P<0.05). There were no significant differences between hypertensives complicated with hemorrhage (25.81%) and controls (P>0.05), and the PAI-1 levels of the 4G/4G genotype in the female patients with CI were higher than those in the male patients with CI of the same genotype. CONCLUSION: The results suggest that PAI-1 gene polymorphism may be a susceptible factor to acute cerebral infarction in Chinese, and 4G allele homozygous genotype may be the major risk factor for acute cerebral infarction, and it may be especially an independent risk factor of cerebral infarction in female patients.

Cerebral Hemorrhage↗

PubMed2006

Neuroimaging studies of serotonin gene polymorphisms: exploring the interplay of genes, brain, and behavior.

Because of the unique ability it provides to investigate information processing at the level of neural systems, functional neuroimaging is a powerful tool to explore the relationship between genes, brain, and behavior. Recently, functional neuroimaging has provided dramatic illustrations of how a promoter polymorphism in the human serotonin transporter gene, which has been weakly related to several dimensions of emotional behaviors (such as neuroticism and anxiety traits), is strongly related to the engagement of neural systems--namely, the amygdala and subgenual prefrontal cortex, subserving emotional information processing. This review will outline the experimental strategy by which these genetic effects on brain function have been explored and highlight the effectiveness of this strategy to delineate biological pathways and mechanisms contributing to the emergence of individual differences in brain function that potentially bias behavior and risk for psychiatric illness.

Animals↗

PubMed2001

[Hypertension and gene polymorphisms].

For our understanding of the genetic factors of human essential hypertension, gene polymorphisms have played a significant role as DNA markers in association and linkage studies. We found positive linkages between hypertension and 4 gene polymorphisms including angiotensinogen Met235Thr, angiotensin converting enzyme I/D, aldosterone synthase CYP11B2 T-344C, and endothelial nitric oxide synthase Glu298Asp in the Aomori population. These results suggest that the 4 gene polymorphisms might be genetic risk factors for hypertension in this district. However, there has been a frustration with the inconsistencies of accumulated evidence. Because, the genetic associations tend to vary across race, ethnicity, and ecological states. Thus, the rates of racial inter-mixture can explain regional differences in disease susceptibility. We emphasize that human lineage based analysis across populations may lead to the better understanding of the variability.

Female↗

PubMed2006

Renin-angiotensin system gene polymorphisms and coronary artery disease in a large angiographic cohort: detection of high order gene-gene interaction.

There have been many reports regarding the association between renin-angiotensin system (RAS) gene polymorphisms and coronary artery disease (CAD) or acute myocardial infarction (AMI), but the results are inconsistent. In the present study, we used several new approaches with multilocus data to reappraise this issue in a large and relatively homogeneous Taiwanese population. A total of 1254 consecutive patients who underwent cardiac catheterization (735 with documented coronary artery disease and 519 without) between 1996 and 2003 were recruited. Angiotensin-converting enzyme gene insertion/deletion (I/D) polymorphism; T174M, M235T, G-6A, A-20C, G-152A and G-217A polymorphisms of the angiotensinogen gene; and A1166C polymorphism of the angiotensin II type I receptor gene were genotyped. In single-locus analyses, no locus was associated with CAD, history of AMI and three-vessel CAD, either with or without adjustment for conventional CAD risk factors. For multilocus analyses, we recreated a balanced population, with the controls individually matched to the cases regarding the conventional CAD risk factors. We found that the angiotensinogen gene haplotype profile was significantly different between the cases and controls (chi2=31.6, P=0.030) in haplotype analyses. Furthermore, significant three-locus (G-217A, M235T and I/D) gene-gene interactions were detected by multifactor-dimensionality reduction method (highest cross-validation consistency 10.0, lowest prediction error 40.56%, P=0.017) and many even higher order gene-gene interactions by multilocus genotype disequilibrium tests (16 genotype disequilibria exclusively found in the controls, all of which included at least two genes among AGT, ACE and AT1R genes). Our study is the first to demonstrate epistatic, high-order, gene-gene interactions between RAS gene polymorphisms and CAD. These results are compatible with the concept of multilocus and multi-gene effects in complex diseases that would be missed with conventional approaches.

Aged↗

PubMed2004

Role of cytokine gene polymorphism and hepatic transforming growth factor beta1 expression in recurrent hepatitis C after liver transplantation.

Recurrent hepatitis C virus (HCV) infection after orthotopic liver transplantation (OLT) is nearly universal. Cytokines play an important role in the immune response to viral infection, and cytokine gene polymorphism affects the overall expression and secretion of cytokines. The objective of this study was to define the relationship between cytokine polymorphism and recurrent hepatitis C after OLT. Blood samples were collected from 36 patients at a mean of 44.6+/-30.4 months after OLT for chronic HCV infection. DNA was extracted from peripheral blood mononuclear cells, and polymerase chain reaction-sequence specific primers (PCR-SSP) analysis was performed on promoter sequences of transforming growth factor beta1 (TGF-beta1), interleukin 6 (IL-6) interleukin 10 (IL-10), tumor necrosis factor alpha (TNF-alpha) and interferon gamma (INF-gamma). Liver biopsies performed at diagnosis of recurrent disease were graded with the Knodell score, and hepatic TGF-beta1 expression was determined semiquantitatively by immunohistochemistry. The gene polymorphism of TGF-beta1 was correlated with its expression on hepatocytes and sinusoids. Polymorphism in all studied cytokine genes was correlated with recurrence, and interval to recurrence (>12 or < or =12 months post-OLT), and clinical (ascites, Child-Pugh score and death), biochemical parameters of recurrent HCV (serum alanine aminotransferase (ALT)), INR, albumin, bilirubin), and virological parameters (HCV genotype and load). Biopsies revealed recurrent HCV in 31 patients (86.1%); in 21 (67.7%), the interval to recurrence was 12 months. There was a statistically significant correlation between TGF-beta1 gene polymorphism, i.e., the genetic ability to produce high levels of TGF-beta1, and the intensity of TGF-beta1 staining on hepatocytes (p=0.003) and sinusoids (p=0.003), and the degree of fibrosis (p=0.02). A borderline correlation was found with the presence of ascites (p=0.007), but not with Child-Pugh score, synthetic liver function tests or HCV genotype and load. The genetic ability to produce low levels of IFN-gamma was correlated with recurrent disease (p=0.015). No such correlation was found for TGF-beta1 gene polymorphism. In conclusion, polymorphism in the TGF-beta1 gene correlates with its in situ hepatic expression in patients with recurrent HCV after liver transplantation. INF-gamma, but not TGF-beta1 gene polymorphism, correlates with early recurrent hepatitis C after transplantation. These findings might help to design preemptive prevention therapy in selected patients at risk.

Cohort Studies↗

PubMed2005

Association of vitamin D receptor gene polymorphisms with hypercalcemia in peritoneal dialysis patients.

BACKGROUND: Some polymorphisms at the human vitamin D receptor (VDR) gene locus may influence calcium and bone metabolism. We investigated the roles of the BsmI and TaqI VDR gene polymorphisms in the development of hypercalcemia in Turkish peritoneal dialysis (PD) patients. METHODS: We enrolled 132 PD patients treated with dialysate containing 1.75 mmol/L calcium. Serum levels of calcium, phosphorus, albumin, and intact parathyroid hormone (iPTH), and the cumulative doses of calcium-based phosphate binders and calcitriol were recorded every 3 months. The VDR BsmI and TaqI genotypes were determined by polymerase chain reaction. RESULTS: When the patients were categorized according to these VDR genotypes, serum levels of phosphorus and iPTH and cumulative doses of calcium-based phosphate binders and calcitriol were similar across groups. The corrected serum calcium levels tended to increase in the patients with BsmI non-BB (Bb + bb) variants, but were significantly decreased in the BB variants (9.9 +/- 0.7 vs 9.1 +/- 0.6 mg/dL, p < 0.05). Hypercalcemia appeared in 21.2% of the patients during the follow-up period. The hypercalcemic patients had a significantly higher prevalence of the BsmI non-BB genotype than the normocalcemic patients (85.7% vs 59.6%, p < 0.007). On the contrary, the serum calcium levels were not affected by the TaqI VDR gene polymorphism (p > 0.05). CONCLUSIONS: These findings suggest that the non-BB variants of the BsmI VDR gene polymorphism are associated with increased risk of developing hypercalcemia in PD patients.

Adult↗

PubMed1998

[Insulin receptor substrate-1 and glucose transporter gene polymorphisms in noninsulin-dependent diabetes mellitus].

OBJECTIVE: To evaluate the role of insulin receptor substrate-1 (IRS-1) and glucose transporter-1 (GLUT1) gene polymorphisms in Chinese patients with noninsulin-dependent diabetes mellitus (NIDDM) and diabetic neophropathy (DN). METHODS: Aminoacid polymorphism in codon 972 of IRS-1 gene and the polymorphic Xba I site of GLUT1 gene were analyzed by PCR-RFLP in 131 patients with NIDDM and 124 normal subjects. DN was defined as persistent albuminuria and/or impaired renal function, without known cause of renal diseases other than diabetes. Insulin sensitivity index (ISI) and body mass index (BMI) were also calculated. RESULTS: The distribution of IRS-1 gene polymorphism showed no difference between patients with NIDDM and normal controls. The frequencies of Xba I (+/-) genotype (59% vs. 33%, P < 0.01) and Xba I (-) allele (37% vs. 21%, P < 0.01) were significantly higher in NIDDM patients than in normal subjects. To further explore the linkage of GLUT1 gene polymorphism with DN, we examined the GLUT1 genotype of NIDDM patients with or without renal damage. The frequency of Xba I (+/-) genotype (75% vs. 44%, P < 0.01) and Xba I (-) allele (44% vs. 29%, P < 0.05) was significantly higher in NIDDM patients with diabetic nephropathy than either those without nephropathy or normal subjects. However, there were no significant differences of GLUT1 genotype and allele frequency in NIDDM patients without nephropathy and normal controls. The presence of Xba I (-) allele appeared to have a strong association with the development of diabetic nephropathy. The odds ratio was 1.915, and the 95% confidence interval was 1.044-3.514. The association of Xba I (-) allele of GLUT1 gene with NIDDM partly reflected their close association with DN. Although there was no correlation between the gene polymorphism of GLUT1 and BMI, patients carrying the Xba I (-) allele showed a lower ISI. CONCLUSION: No association was found between the gene polymorphism of IRS-1 and NIDDM. THe Xba I (-) allele of GLUT1 gene might be taken as a genetic marker of NIDDM with diabetic nephropathy and this genetic susceptibility appears to be associated with the insulin resistance in patients with NIDDM.

Adult↗

PubMed2001

Association analysis between two functional dopamine D2 receptor gene polymorphisms and schizophrenia.

The dopamine D2 receptor (DRD2) gene has been listed as one of the candidate genes for susceptibility to schizophrenia. To date, a significant association between schizophrenia and two functional DRD2 gene polymorphisms, Ser311Cys and -141C Ins/Del, in Japanese samples, has been reported by Arinami et al. [1994: Lancet 343:703-704; 1997: Hum Mol Genet 6:577-582]. In the present study, we replicated the findings of Arinami et al. [1994: Lancet 343:703-704; 1997: Hum Mol Genet 6:577-582] in the same ethnic groups (Japanese samples) with the same polymorphisms (Ser311Cys and -141C Ins/Del). We genotyped these two polymorphisms for 241 patients and for 201 controls. Neither polymorphism was associated with schizophrenia. Moreover, in a haplotype analysis of the present sample, combined pairs of two polymorphisms provided no evidence for the association of either haplotype with schizophrenia. Our findings indicate that an association between the two functional DRD2 gene polymorphisms, Ser311Cys and -141C Ins/Del, and schizophrenia is unlikely.

Aged↗

PubMed2005

AT1 receptor A1166C and AT2 receptor -1332A/G gene polymorphisms: efficient genotyping by single-tube PCR.

Angiotensin II type 1 receptor (AT1) and angiotensin II type 2 receptor (AT2) genes have been investigated in recent years as potential etiologic candidates for cardiovascular and renal diseases. The pathogenic implications of AT1 A1166C and AT2 A-1332G gene polymorphisms have been shown. Here we describe a rapid and reliable method for detecting both AT1 and AT2 gene polymorphisms by a single-tube PCR, to reduce analysis time and simplify the genotyping procedure. In contrast to previously described methods, our method does not require hybridization, primer extension, or nested PCR for genotyping. In most previous studies concerning gene polymorphisms of RAS, both AT1 and AT2 receptor gene polymorphisms were investigated. The advantage of our method is that it makes it possible to detect both of these polymorphisms in a duplex PCR. The procedure described is convenient for routine laboratory use with manual sample processing, and offers the potential for further automation as well. Its simplicity makes it practical for large-scale screening of individuals and families at risk for cardiovascular or renal diseases.

Cardiovascular Diseases↗

PubMed1998

High-density lipoprotein cholesterol is related to the TaqIB cholesteryl ester transfer protein gene polymorphism and smoking, but not to moderate alcohol consumption in insulin-dependent diabetic men.

In non-diabetic subjects, the high-density lipoprotein (HDL) cholesterol level is increased by alcohol and decreased by smoking. The biallelic B1B2 polymorphism of the cholesteryl ester transfer protein (CETP) gene is a genetic determinant of HDL cholesterol. We evaluated the effect of moderate alcohol consumption, the CETP gene polymorphism and clinical variables on HDL cholesterol and other lipoprotein parameters in insulin-dependent diabetic (IDDM) men. Thirteen moderate alcohol using IDDM men (median alcohol consumption 17 g/d) and 13 abstainers, individually matched for the CETP gene polymorphism and clinical factors including smoking, were studied. HDL cholesterol, serum apo AI and serum CETP activity levels were very similar in alcohol users compared to abstainers (1.36 +/- 0.28 vs 1.36 +/- 0.36 mmol l-1, 1.71 +/- 0.31 vs 1.75 +/- 0.33 g l-1 and 134 +/- 27 vs 138 +/- 53 nmol l-1h-1, respectively, n.s. for all). No significant differences in apo B-containing lipoproteins were observed. Multiple regression analysis (multiple r = 0.68) showed that HDL cholesterol was positively associated with the presence of the B2 allele (0.23 mmol l-1 higher for each B2 allele present, p = 0.004) and negatively with smoking (0.15 mmol l-1 lower per 10 cigarettes smoked daily, p = 0.011), but not with alcohol consumption (p = 0.66). This study suggests that moderate alcohol consumption has no beneficial effect on the lipoprotein profile in IDDM men. HDL cholesterol is adversely influenced by smoking, whereas considerable variation in its level appears to be explained by the CETP gene polymorphism.

Adult↗