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PubMed1998

ACE gene polymorphism in childhood IgA nephropathy: association with clinicopathologic findings.

A deletion polymorphism in the angiotensin-converting enzyme (ACE) gene has been reported to be a risk factor for progression to chronic renal failure in immunoglobulin A nephropathy (IgAN). In this study, we investigated the association between ACE gene polymorphism and clinical findings, early biopsy findings such as the extent of mesangial proliferation, focal lesions (capsular adhesions, glomerulosclerosis, and crescents), and the glomerular area in childhood IgAN. Genomic DNA was obtained from 97 patients and control subjects. Gene polymorphisms, consisting of an insertion (I) or deletion (D) of the 287-base pair Alu sequence, were detected using the polymerase chain reaction. The extent of capsular adhesions and glomerulosclerosis was significantly higher in patients with the ID/DD genotypes than in those with the II genotype (ID/DD v II: 8.0%+/-1.4% v 2.5%+/-0.8% [P = 0.017] and 5.1%+/-1.3% v 1.4%+/-0.6% [P = 0.028], respectively). Whereas there was no difference in the extent of mesangial proliferation and crescents between the ID/DD genotypes and the II genotype. Urinary protein excretion at the time of biopsy was significantly greater in patients with the ID/DD genotypes than in those with the II genotype (1.02+/-0.15 g/d/m2 body surface area v 0.56+/-0.13 g/d/m2 body surface area; P = 0.012). These results indicate that ACE gene polymorphism may not influence the extent of mesangial proliferation and crescents that are acute lesions. However, the ID/DD genotypes are associated with chronic lesions, such as capsular adhesions or glomerulosclerosis and urinary protein excretion in childhood IgAN.

Alleles↗
PubMed2006

RAS and MTHFR gene polymorphisms in a healthy exercise-trained population: association with the MTHFR (TT) genotype and a lower hemoglobin level.

The aim of this study was to determine the frequencies of ACE (I/D), AGT (M235T), AT1R (A1166C) and MTHFR (C677T) polymorphisms in a well-defined (in regards to health and nutritional status and lifestyle) population of young, healthy, exercise-trained subjects (no. 100) from the Campania region of Southern Italy. We also investigated whether there was any correlation between these polymorphisms and biochemical, hematological and hemostatic parameters in this "low-risk" population. Gene polymorphisms were analyzed with the polymerase chain reaction and restriction enzyme analysis. Allele frequencies of the genotypes examined were in Hardy-Weinberg equilibrium and agree with those reported in the Italian population. No associations were found between ACE, AGT, AT1R gene polymorphisms and anthropometric, clinical and laboratory parameters. However, the MTHFR (C677T) polymorphism was significantly associated with lower hemoglobin plasma levels in TT vs. CC + CT females (p < 0.016). This report is the first to describe the frequencies of RAS and MTHFR gene polymorphisms in young, exercise-trained volunteers from Campania and to identify an association between the MTHFR gene polymorphisms and lower hemoglobin plasma levels in young healthy females.

Adult↗
PubMed2002

Serotonin 5-HT(2A) receptor gene polymorphism, 5-HT(2A) receptor function and personality traits in healthy subjects: a negative study.

BACKGROUND: Central serotonin-2A (5-HT(2A)) receptor dysfunction is regarded as an important factor in the etiology of affective disorders. The relations between some personality traits and the vulnerability of affective disorders are also implicated. Moreover, there are several reports which describe the association between 5-HT(2A) receptor gene polymorphisms and mental disorders. We therefore examined the relationship between personality traits, the 5-HT(2A) receptor function, and 5-HT(2A) receptor gene polymorphisms. METHODS: 5-HT-induced intraplatelet calcium (Ca) mobilization, 5-HT(2A) receptor gene polymorphisms (A-1438G, T102C, T516C, C1340T, C1354T), and Temperament and Character Inventory (TCI) scores were examined in 133 healthy subjects. RESULTS: Neither 5-HT-induced Ca mobilization nor 5-HT(2A) receptor gene polymorphisms (A-1438G, T102C) appear to be associated with seven personality dimensions including Harm Avoidance. There was no significant difference in the Ca response among the subjects with -1438A/A, A/G and G/G genotypes. Since the appearance of the other types of the 5-HT(2A) receptor gene polymorphisms (T516C, C1340T and C1354T) was quite rare in our sample, we were unable to examine the relationship between these polymorphisms, and the TCI score or the Ca response. LIMITATIONS: Our failure to find a significant association may reflect the false negative results due to the small sample size and low statistical power. Further studies in depressed patients may clarify the complicated relationship between personality traits and the vulnerability of affective disorders. CONCLUSIONS: Personality traits detected by TCI may not be directly related to the 5-HT(2A) receptor function or 5-HT(2A) receptor gene polymorphism which may be involved in the vulnerability of affective disorders.

Adult↗
PubMedDate not supplied

Angiotensin converting enzyme gene polymorphism and development of post-transplant erythrocytosis.

BACKGROUND: An increased activation of the renin-angiotensin system probably plays a major role in the development of post-transplant erythrocytosis (PTE). It is known that deletion type polymorphism (DD) in the angiotensin converting enzyme (ACE) gene is associated with higher circulating angiotensin II (AII) levels. The aim of this study was to investigate the effect of ACE gene polymorphism on development of PTE. METHODS: 86 PTE patients (male/female: 68/18, mean age: 32 +/- 10 years) and 68 consecutively transplanted non- PTE patients (male/female: 38/30, mean age: 31 +/- 10 years) were included; 140 patients (91%) had been transplanted from living donors; 92 patients (60%) had hypertension. ACE gene polymorphism was determined by polymerase chain reaction (PCR). RESULTS: The mean time to appearance of PTE was 8.8 +/- 7.9 (range of 1-53) months. DD genotype was detected in 65 patients. PTE patients had a higher prevalence of hypertension (70% vs. 46%, p=0.003) and a lower frequency of DD genotype (34% vs. 54%, p=0.014) as compared to non-PTE patients [OR: 2.2 (1.14-4.25, 95% CI)]. PTE developed more frequently in male patients (68/106: 64%) than females (18/48: 38%) (p=0.002). Patients with DD genotype had a significantly longer leading time to PTE in Kaplan-Meier survival analysis with log-rank (136 +/- 15 vs. 92 +/- 13 months, p=0.015). In Cox regression analysis, hypertension (p=0.002) and recipient ACE genotype (p=0.013) were retained as independent variables for predicting PTE development. CONCLUSIONS: PTE develops more frequently in male, hypertensive renal transplant recipients with good allograft function. DD-type ACE gene polymorphism seems to protect against PTE development.

Adult↗
PubMed2004

Epidermal growth factor gene polymorphism is different between schizophrenia and lung cancer patients in Korean population.

Low incidence of cancer in schizophrenia is one of the interesting puzzles in psychiatric field over decades. Analysis of genetic difference between schizophrenia and lung cancer might provide us with possible clues to understand molecular mechanisms of pathophysiology of schizophrenia. Epidermal growth factor (EGF), one of the potent growth promoting factors, has been studied for its roles in cancer development. EGF is also known to be involved in cognitive function. In order to analyze the genetic difference between schizophrenia and lung cancer, polymorphism of EGF gene was studied from 174 schizophrenia patients, 122 lung cancer patients and 132 controls in Korean population. Genotype frequency analysis of EGF gene (AluI restriction site, 5'-UTR, rs4444903) in the EGF gene was studied. The genotype and allele frequencies of the AluI polymorphism showed significant differences between schizophrenia and lung cancer patients [p<0.0001; p<0.0001, odds ratio (95% CI), 0.3690 (0.2600-0.5236)]. When compared with controls, schizophrenia patients showed no significant differences from controls in genotype and allele frequencies [p=0.5151; p=0.3516, odds ratio (95% CI), 0.8589 (0.6235-1.1830)]. However, lung cancer patients showed significant differences from controls in genotype and allele frequencies [p<0.0001; p<0.0001, odds ratio (95% CI), 2.3275 (1.6082-3.3687)]. These results indicate that schizophrenia is not associated with AluI polymorphism of EGF gene and EGF gene polymorphism is different between schizophrenia and lung cancer patients.

5' Untranslated Regions↗
PubMed1999

Angiotensinogen T174M and M235T gene polymorphisms are associated with the extent of coronary atherosclerosis.

BACKGROUND: The relations of the angiotensinogen (AGT) T174M and M235T gene polymorphisms to the risk of coronary heart disease (CHD) have been investigated in only a few studies with conflicting results. RESULTS: Therefore, we analysed the relationship of the AGT gene polymorphisms to the presence and extent of CHD in 2250 male Caucasians whose coronary anatomy was defined by means of coronary angiography. The relative frequencies of the T and M alleles of the T174M and of the M235T gene variation did not significantly differ between patients without or with single-, double- or triple-vessel disease and between subjects without or with myocardial infarction (MI). In contrast the mean CHD score--defined by Gensini--was higher within MM homozygotes of the T174M gene variation than within TT genotypes; TM subjects had intermediate values. In M235T genotypes, mean CHD scores were similar in the total sample and in older individuals (> or = 62 years), whereas in younger individuals (< 62 years) a higher CHD score was found within AGT 235 T allele carriers than within MM homozygotes. In younger individuals with high apoAI plasma levels, the mean CHD score was clearly higher within TT homozygotes of the M235T gene variation than within MM genotypes; MT subjects had intermediate values. An interaction between both angiotensinogen gene polymorphisms on the extent of CHD or on the risk of non-fatal MI were not observed when the M allele of AGT T174M was combined either with the T allele or the TT genotype of M235T. CONCLUSIONS: The present study strengthens the hypothesis of an association of both angiotensinogen gene polymorphisms with the extent of coronary heart disease.

Alleles↗
PubMed2004

Cytokine gene polymorphisms in idiopathic pulmonary fibrosis.

Pro- and anti-fibrotic cytokine gene polymorphisms may affect expression of idiopathic pulmonary fibrosis (IPF). The aims of the present case-control study were to examine polymorphisms in the IL-6, transforming growth factor (TGF)-beta 1, tumour necrosis factor (TNF)-alpha and interleukin-1 (IL-1)Ra genes in patients with IPF (n = 22) -compared to healthy controls (n = 140). Genotyping was performed on DNA extracted from peripheral blood lymphocytes, using polymerase chain reaction - restriction fragment length polymorphism with gene polymorphisms determined according to -published techniques. The following sites were examined: (i) IL-1Ra*1-5 (86 bp variable tandem repeat intron 2), (ii) IL-6 (-174G > C), (iii) TNF-alpha (-308G > A) and (iv) TGF-beta 1 (Arg25Pro). The TNF-alpha (-308 A) allele was over-represented in the IPF (p(corr) = 0.004) group compared to controls. Risk of IPF was significant for heterozygotes for: (i) the TNF-alpha (-308 A) allele (A/G) (odds ratio (OR) 2.9; 95% confidence interval (CI) 1.2-7.2; P = 0.02), (ii) homozygotes (A/A) (OR 13.9; 95%CI 1.2-160; P = 0.04) and (iii) carriage of the allele (A/A + A/G) (OR 4; 95%CI 1.6-10.2; P = 0.003). The distribution of alleles and genotypes for IL-6, TGF-beta 1 and IL-1Ra between the two groups was not significantly different. This is the third study to independently confirm that there is a significant association of the TNF-alpha (-308 A) allele with IPF. Further research is needed to assess the utility of cytokine gene polymorphisms as markers of disease -susceptibility.

Aged↗
PubMed2001

Lack of association of the renin-angiotensin system genes polymorphisms and left ventricular hypertrophy in hypertension.

OBJECTIVE: The aim of the present study was to determine if there is an association of different gene polymorphisms of renin-angiotensin system and left ventricular hypertrophy (LVH) in patients with essential hypertension (EH) in St Petersburg population. PATIENTS AND METHODS: We examined 156 patients (the mean age 49+/-8 years) with mild-to-moderate EH recruited from the general population of the outpatient clinic. Left ventricular mass was measured by echocardiography and left ventricular mass index (LVMI) was calculated. Subjects were genotyped for I/D polymorphism of the angiotensin-converting enzyme (ACE) gene, A1166C polymorphism of the AT1 receptor gene, M235T polymorphism of angiotensinogen gene and -6G/A polymorphism of its promoter region. RESULTS: Genotype distribution of the sample obeyed Hardy-Weinberg equilibrium and was comparable to that reported previously for hypertensive individuals. Groups of patients with II, ID and DD polymorphism of ACE gene did not differ significantly in their LVMI levels. Furthermore, neither ID ACE-gene polymorphism nor ATI-receptor gene and angiotensinogen gene polymorphism was associated with LVH. Additionally, no any significant gene-gene interactions were found to be associated with LVH in the group studied. CONCLUSIONS: In the light of these observations it seems reasonable to make a preliminary conclusion about lack of association between LVH and distinct polymorphisms of renin-angiotensin system genes in the population studied.

Adult↗
PubMed2006

Impact of selectin gene polymorphisms on rapid progression to end-stage renal disease in patients with IgA nephropathy.

OBJECTIVE: It is evident that leukocyte infiltration plays an important role in the pathogenesis of IgA nephropathy (IgAN). Selectin is one of the key adhesion molecules involved in leukocyte infiltration. Recent studies demonstrated a significant association between the selectin gene polymorphisms and susceptibility to IgAN. However, the impact of selectin gene polymorphisms on the progression to end-stage renal disease (ESRD) has not been studied. PATIENTS AND METHODS: To evaluate the influence of the selectin gene polymorphisms on the progression of IgAN, we designed specific primers for PCR genotyping and analyzed the association of selectin gene polymorphisms with the declining rate in renal function to its ESRD. RESULTS: A total of 61 hemodialysis patients were enrolled in the study. The mean age at renal biopsy was 33.0+/-13.3 years old, and the mean age at the start of hemodialysis was 41.2+/-13.8 years old. The mean interval between the time points of renal biopsy and the start of hemodialysis was 8.2+/-6.5 years (ranging from 0 to 33 years). The interval was significantly longer in IgAN patients with a homoallele of C in C1402T, C1402/C1402, of the E-selectin gene, or a homoallele of C in C712T, C712/C712, of the L-selectin gene compared to others. The haplotype, which is a combination of C1402/C1402 and C712/C712, is able to distinguish the group that is at least a better prognosis than the severest prognostic one. CONCLUSION: This study provides a possible association between the selectin gene polymorphisms and the rapid progression to ESRD in IgAN patients.

Adult↗
PubMed2007

Lack of association between leptin G2548A gene polymorphism and Behçet's disease.

BACKGROUND: Behçet's disease is a chronic, multisystem, inflammatory disease characterized by the predominance of T-helper 1 cytokines. The disease is also characterized by infiltration of lymphocytes and neutrophils into the affected tissues. Because cytokines are involved in the regulation of lymphocyte and phagocyte functions, they may play an important role in the pathogenesis of Behçet's disease. Leptin, a member of the gp 130 family of cytokines, induces a strong T-helper 1 response and is regarded as a proinflammatory inducer. Recent studies have shown that serum leptin concentration was increased in patients with Behçet's disease and correlated with disease activity. OBJECTIVES: We aimed to investigate the role of G2548A polymorphism of leptin gene in patients with Behçet's disease and compare the results with healthy controls. PATIENTS AND METHODS: A total of 93 subjects with Behçet's disease and 125 healthy controls were included in this study. Analyses of G-2548A polymorphism of the LEP gene were performed using the PCR-restriction fragment length polymorphism technique. The genotypes (GG, GA, and AA of leptin G2548A) and alleles (G and A of leptin 2548) were scored and the frequency was estimated. The frequencies of the alleles and genotypes in patients and controls were compared. We analysed the correlation between leptin gene polymorphism and the clinical features of BD. RESULTS: Both genotype and allele frequencies were not significantly different between controls and Behçet's disease patients [OR=0.67, 95% CI (0.35-1.29), P=0.197 and OR=0.77, 95% CI (0.52-1.15), P=0.184]. We did not find any significant relationship between leptin gene polymorphism and the clinical features of BD (P>0.05). CONCLUSION: In the present case-control study, we found no evidence of an association between the G-2548A variant of the leptin gene and BD among Turks. Further studies are needed to investigate serum leptin level to explain the mechanisms behind the lack of association between leptin G2548A gene polymorphism and BD.

Base Sequence↗
PubMed2006

ACE gene polymorphism and erythropoietin in endurance athletes at moderate altitude.

PURPOSE: To determine the role of the ACE (I/D) gene polymorphism on erythropoietic response in endurance athletes after natural exposure to moderate altitude. METHODS: Erythropoietic activity was measured in 63 male endurance athletes following natural exposure to moderate altitude (2200 m) during 48 h. Erythropoietin (EPO) levels and hemoglobin (Hb) concentrations were measured at baseline and 12, 24, and 48 h after reaching the set altitude. Reticulocyte counts were determined at baseline and 48 h thereafter. Subjects were grouped into two groups (responders and nonresponders) based on significant increase in EPO levels (median: > 16.5 ng x m(-1)) after 24 h at altitude. ACE gene polymorphism was ascertained by polymerase chain reaction (DD, 31 (49%); ID, 24 (38%); II, 8 (13%)). RESULTS: Overall, EPO levels significantly increased at 12 (70%; P = 0.0001) and 24 h (72%; P = 0.0001) above baseline concentration following exposure to 2200 m. Thereafter, EPO concentration decreased at 48 h, but a significant increase in Hb levels (4.6 +/- 4%; P = 0.0001) and reticulocyte count (50.5 +/- 79%; P = 0.0001) was observed at the end of the experiment, suggesting negative feedback. There were no significant differences in EPO and Hb concentration profiles between subjects with DD genotype and those with other genotypes (ID/II). Moreover, responders (N = 42; DD, 50%; ID/II, 50%) and nonresponders (N = 21; DD, 48%; ID/II, 52%) showed a similar erythropoietic profile during the experiment and the ACE gene polymorphism did not influence the time course of the erythropoietic response. CONCLUSIONS: The ACE gene polymorphism does not influence erythropoietic activity in endurance athletes after short-term exposure to moderate altitude.

Adult↗
PubMed2005

Thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphism in normal tissue as predictors of fluorouracil sensitivity.

PURPOSE: To analyze thymidylate synthase (TS) and methylenetetrahydrofolate reductase (MTHFR) gene polymorphism with respect to fluorouracil (FU) sensitivity. PATIENTS AND METHODS: The study included a retrospective analysis of 88 patients with metastatic colorectal cancer and a prospective trial with 51 patients also with measurable metastases. All patients were treated with FU and leucovorin. The analysis of gene polymorphism was performed on normal intestinal tissue and lymphocytes. RESULTS: The response rate was significantly higher in patients with TS 3R/3R or MTHFR 677 TT gene polymorphism compared with the other groups. The difference of response rate translated to a difference in time to progression. Similar results were observed in the retrospective analysis and the prospective confirmatory trial. CONCLUSION: The analysis of gene polymorphism allows delineation of a group of patients (30%) with a response rate to a single drug of approximately 50%. This information should be used in the design of tailored treatment.

Colorectal Neoplasms↗
PubMed2004

The ScaI gene polymorphism of the atrial natriuretic factor and essential arterial hypertension in childhood.

In order to investigate the contribution of the atrial natriuretic factor (ANF) gene in pathogenesis of essential arterial hypertension (EAH), we analyzed the ScaI gene polymorphism of the ANF gene in a group of children with EAH. Fifty-eight children, aged 8-19 years, with the diagnosis of EAH were included in the association study and were compared to 57 subjects with normal blood pressure (the control group). Arterial hypertension was defined as systolic/diastolic blood pressure higher than the 95th age-gender-height percentile of the adopted reference values. We failed to demonstrate an association between the ScaI ANF gene polymorphism and EAH in childhood (OR = 2; 95% CI 0.9-4.2; p = 0.07), however, we provided evidence of an interaction between the ScaI ANF gene polymorphism and obesity defined as BMI over the 85th percentile (OR = 13.1; 95% CI 1.6-106; p < 0.001).

Adolescent↗
PubMed2000

The mouthwash: a non-invasive sampling method to study cytokine gene polymorphisms.

BACKGROUND: We describe a simple, non-invasive mouthwash sampling method for rapid DNA isolation to detect cytokine gene polymorphisms. In the present paper, interleukin- 1beta(IL-1B) and interleukin-1 receptor antagonist (IL-1RN) gene polymorphisms were studied. METHODS: Two mouthwash samples and blood samples were collected from 11 healthy individuals. The second mouthwash sample was stored for 7 days at room temperature. Polymerase chain reaction amplification was used to identify a bi-allelic polymorphism at position +3953 in the IL-1B gene and a variable number of tandem repeats (VNTR) polymorphism in the IL-1RN gene. RESULTS: Our results show that the typing of these cytokine gene polymorphisms using DNA isolated from mouthwash samples did not differ from those obtained by a phenol/chloroform isolation method from EDTA anti-coagulated blood. Moreover, reliable results from mouthwash samples were obtained after storage for at least 7 days at room temperature. CONCLUSIONS: Mouthwash can be the method of choice to study gene polymorphisms in periodontitis and other chronic inflammatory diseases.

Alleles↗
PubMed2002

Tumor necrosis factor-alpha +489G/A gene polymorphism is associated with chronic obstructive pulmonary disease.

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is characterized by a chronic inflammatory process, in which the pro-inflammatory cytokine Tumor Necrosis Factor (TNF)-alpha is considered to play a role. In the present study the putative involvement of TNF-alpha gene polymorphisms in pathogenesis of COPD was studied by analysis of four TNF-alpha gene polymorphisms in a Caucasian COPD population. METHODS: TNF-alpha gene polymorphisms at positions -376G/A, -308G/A, -238G/A, and +489G/A were examined in 169 Dutch COPD patients, who had a mean forced expiratory volume in one second (FEV1) of 37 +/- 13%, and compared with a Dutch population control group of 358 subjects. RESULTS: The data showed that the TNF-alpha +489G/A genotype frequency tended to be different in COPD patients as compared to population controls, which was due to an enhanced frequency of the GA genotype. In line herewith, carriership of the minor allele was associated with enhanced risk of development of COPD (odds ratio = 1.9, p = 0.009). The other TNF-alpha gene polymorphisms studied revealed no discrimination between patients and controls. No differences in the examined four TNF-alpha polymorphisms were found between subtypes of COPD, which were stratified for the presence of radiological emphysema. However, comparison of the COPD subtypes with controls showed a significant difference in the TNF-alpha +489G/A genotype in patients without radiological emphysema (chi2-test: p < 0.025 [Bonferroni adjusted]), while no differences between COPD patients with radiological emphysema and controls were observed. CONCLUSION: Based on the reported data, it is concluded that COPD, and especially a subgroup of COPD patients without radiological emphysema, is associated with TNF-alpha +489G/A gene polymorphism.

Adenine↗
PubMed2002

COL9A3 gene polymorphism and obesity in intervertebral disc degeneration of the lumbar spine: evidence of gene-environment interaction.

STUDY DESIGN: Cross-sectional. OBJECTIVES: To evaluate the interaction between the COL9A3 gene polymorphism and persistent obesity in relation to lumbar disc degeneration. SUMMARY OF BACKGROUND DATA: Obesity has been suggested to be a risk factor for disc degeneration. There is some indication for an association between collagen IX genes and lumbar disc disease characterized by sciatica. However, the interaction between those factors in their influences on the risk of disc degeneration has not been studied. METHODS: Blood samples from 135 middle-aged men who had undergone magnetic resonance imaging (MRI) of the lumbar spine were analyzed for the presence of an arginine to tryptophan change in the COL9A3 gene (Trp3 allele). The men represented three occupations: 41 were machine drivers, 42 were carpenters, and 52 were office workers. The discs L2/L3-L5/S1 were evaluated on MRI, using decreased signal intensity of the nucleus pulposus, posterior disc bulges, and decreased disc height as signs of disc degeneration. Based on self-reports on body height and weight currently and at the age of 25 years, obesity history was classified as no obesity, persistent obesity, and other. Rothman's synergy index was used as a measure of interaction between two factors. RESULTS: The Trp3 allele and persistent obesity acted synergistically to increase the risk of dark nucleus pulposus, posterior disc bulge, and decreased disc height at L4/L5; of multilevel posterior disc bulges; and of decreased disc height. From 45% to 71% of disc degeneration among persistently obese individuals with the Trp3 allele could be attributed to the synergism of these two factors. CONCLUSION: The effect of obesity on lumbar disc degeneration seems to be modified by the collagen IX gene polymorphism, so that people who carry the Trp3 allele are at increased risk if they are persistently obese.

Alleles↗
PubMed1999

Cytokine gene polymorphism in human disease: on-line databases.

The pathologies of many infectious, autoimmune and malignant diseases are influenced by the profiles of cytokine production in pro-inflammatory (TH1) and anti-inflammatory (TH2) T cells. Interindividual differences in cytokine profiles appear to be due, at least in part, to allelic polymorphism within regulatory regions of cytokine gene. Many studies have examined the relationship between cytokine gene polymorphism, cytokine gene expression in vitro, and the susceptibility to and clinical severity of diseases. A review of the findings of these studies is presented. An on-line version featuring appropriate updates is accessible from the World Wide Web site, http://www.pam.bris.ac.uk/services/GAI/cytokine4.htm.

Cytokines↗
PubMed2002

[Tumor necrosis factor alpha HLA-DRB(1) gene polymorphism and genetic susceptibility to cirrhosis].

OBJECTIVE: To study the relationship between the gene polymorphism of HLA-DRB(1) and tumor necrosis factor (TNF)alpha with the genetic susceptibility to cirrhosis. METHODS: The gene polymorphism of DRB(1) and TNF alpha of 106 cases of cirrhosis due to HBV and 108 controls were detected by means of polymerase chain reaction-sequence specific primer and RFLP techniques. RESULTS: The frequency of DRB(1) * 120X and TNF2/1 was increased in the patients as compared with the controls (35.9% vs 11.1%, P < 0.001, 19.8% vs 10.2%, P < 0.05 respectively), The frequency of DRB(1) * 150X allele was reduced in the patients as compared with the controls (13.2% vs 30.6%, P < 0.05). It is suggested that the gene polymorphism of HLA-DRB(1) and TNF alpha to be associated with genetic susceptibility to cirrhosis. Cross analysis showed that DRB(1) * 120X allele was more strongly associated with genetic susceptibility to cirrhosis than TNF2 allele. CONCLUSIONS: The genetic susceptibility to cirrhosis is associated with DRB(1) * 120X and TNF2 allele, persons with DRB(1) * 120X and TNF2 allele have an increased risk for the liver cirrhosis occurrence; DRB(1) * 120X allele may be a susceptibility gene to liver cirrhosis and DRB(1) * 150X allele may be a protective gene from liver cirrhosis.

Disease Susceptibility↗