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PubMed2005

Reward dependence is related to norepinephrine transporter T-182C gene polymorphism in a Korean population.

It is well established that approximately 50% of the variance in personality traits is genetic. The goal of this study was to investigate a relationship between personality traits and the T-182C polymorphism in the norepinephrine transporter gene. The participants included 115 healthy adults with no history of psychiatric disorders and other physical illness during the past 6 months. All participants were tested with the Temperament and Character Inventory and genotyped norepinephrine transporter gene polymorphism. Differences on the Temperament and Character Inventory dimensions among three groups were examined with one-way analysis of variance. Our study suggests that the norepinephrine transporter T-182C gene polymorphism is associated with reward dependence in Koreans, but the small number of study participants and their sex and age heterogeneity limits generalization of our results. Further studies are necessary with a larger number of homogeneous participants to confirm whether the norepinephrine transporter gene is related to personality traits.

Adult↗
PubMed2006

Interleukin-10 and tumor necrosis factor-alpha single nucleotide gene polymorphism frequency in paracoccidioidomycosis.

Allelic variants of cytokine genes seem to be involved in mechanisms of resistance or susceptibility to several diseases. The aim of this study was to investigate the frequency of genotypes with the tumor necrosis factor-alpha TNF-alpha gene polymorphism G/A at position -308 and the IL-10 gene polymorphism G/A at position -1082, and to verify a possible association of these polymorphisms with paracoccidioidomycosis (PCM) caused by Paracoccidioides brasiliensis. Genotyping was performed by allele-specific polymerase chain reaction (ASPCR) and restriction fragment length polymorphism (RFLP) on genomic DNA isolated of granulocytes from 54 PCM patients and 31 noninfected individuals. The analysis of SNP at position -1082 IL-10 showed a high frequency of GA genotype in both patients and controls (51% and 55%, respectively), while the allelic frequency showed 54% of G allele in the patients and 66% of A allele in the controls. The GG genotype was more frequent in patients (85%) and controls (68%) when we analyze the SNP at position -308 of TNF-alpha gene. Otherwise, 91% of PCM patients and 84% of noninfected individuals carried the G allele in -308 TNF-alpha SNP. Stimulation of cells from individuals with PCM phenotyped as A+ (GA or AA genotypes) presented elevation of TNF-alpha producing cells when compared with IL-10-producer cells. These findings reinforce the critical role of IL-10 and TNF-alpha in the paracoccidioidomycosis and can strongly suggest that the genetic screening of the -308G/A and -1082G/A polymorphisms may be a valid tool for identification of subjects needing a more appropriate therapy.

Adolescent↗
PubMed1998

Angiotensin-converting enzyme gene polymorphism and risk of sarcoidosis.

The angiotensin-converting enzyme (ACE) has been implicated in the pathophysiology of sarcoidosis. Serum ACE levels in normal and sarcoidosis patients are influenced by an insertion (I)/deletion (D) polymorphism in the ACE gene. To elucidate the role of this ACE gene polymorphism in sarcoidosis, we conducted a case-control study in African Americans and Caucasians. The ACE gene (I/D) polymorphism did not differ between 60 Caucasian cases and 48 control subjects (p = 0.577). In contrast, a comparison of 183 African-American cases and 111 control subjects resulted in a marked difference in genotypic distributions (p = 0.005). In African Americans, the risk for sarcoidosis was 1.30 (95% confidence interval [CI] = 0.72 to 2. 36) for ID heterozygotes, and 3.17 (95% CI = 1.50 to 6.71) for deletion/deletion (DD) homozygotes. The risk associated with the DD homozygotes was even greater in African Americans when cases were restricted to those with a positive family history (odds ratio = 4. 83; 95% CI = 1.86 to 12.59). Further analyses of African-American cases showed that the ACE genotype was not associated with disease severity, extrathoracic involvement, or overall radiographic change 2 to 4 yr after diagnosis. We did find a moderate association between the II genotype and radiographic progression (OR = 2.97; 95% CI = 1.01 to 8.76). Our results suggest the ACE genotype may play a more important role in sarcoidosis susceptibility and progression in African Americans than Caucasians.

Adult↗
PubMed2005

Association of TAP1 and TAP2 gene polymorphisms with systemic sclerosis in Korean patients.

We sought to determine whether transporter associated with antigen processing (TAP) gene polymorphism is associated with susceptibility to systemic sclerosis (SSc). TAP1 and TAP2 gene polymorphisms were analyzed in 61 Korean patients with SSc and 100 ethnically matched healthy Koreans by polymerase chain reaction-restriction fragment length polymorphism. Human leukocyte antigen (HLA)-DRB1 genotyping data of the patients from our previous study was used for the assessment of independent role of TAP genes to SSc susceptibility. Patients were stratified according to anti-topoisomerase I (anti-topo I) antibody status and clinical subsets of diffuse and limited cutaneous SSc (dcSSc and lcSSc). TAP1 and TAP2 gene polymorphisms were associated with different subsets of SSc: TAP1*A/A genotype with anti-topo I-positive dcSSc (p = 0.01, p corrected = 0.04), TAP2*A1/C genotype with anti-topo I-positive lcSSc (p < 0.05), TAP2*Bky2 and *C alleles with anti-topo I-negative dcSSc (both p < 0.05), and TAP2*B/E genotype with anti-topo I-negative lcSSc (p = 0.004). Although TAP gene associations were generally weak, some associations (TAP2*A1/C, TAP2*C, and TAP2*B/E) with different subsets of SSc were independent of HLA-DR associations, revealing even stronger associations (TAP2*A1/C and TAP2*C) among individuals not possessing the risk HLA-DR alleles. These results suggest the possible role of TAP gene polymorphisms in the genetic susceptibility to SSc.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed2004

Heat shock protein 70 gene polymorphisms in Han nationality of China with chronic obstructive pulmonary diseases.

In order to investigate whether polymorphism in gene for heat shock protein 70 (HSP70) has any bearing on individual susceptibility to the development of chronic obstructive pulmonary disease (COPD), the geotypes of 88 patients with COPD and 87 healthy smoking control subjects were tested by polymerase chain reaction followed by restriction fragment polymorphism analysis for HSP70 gene. In COPD group, HSP70-1 genotype A/A, A/B and B/B was 59.1%, 35.2% and 5.7%, HSP70-2 genotype A/A, A/B and B/B was 26.1%, 54.6% and 19.3%, and HSP70-hom genotype A/A, A/B and B/B was 70.4%, 27.3% and 2.3% respectively. In the control group, it was 60.9%, 27.5% and 3.5%, 20.7%, 56.3% and 23.0%, and 54.0%, 42.5% and 3.5%, respectively. The frequency of polymorphic genetypes showed no difference between the COPD group and the control group (P>0.05). It was suggested that geneic polymorphism in HSP70 is not associated with development of COPD in Han nationality of China.

China↗
PubMed2006

Manganese superoxide dismutase gene polymorphism (V16A) is associated with stages of albuminuria in Korean type 2 diabetic patients.

Several single-nucleotide polymorphisms of genes related to oxidative stress have been evaluated because intracellular reactive oxygen species are associated with development of diabetes and its microvascular complications. We performed a case-control study to investigate whether V16A polymorphism of manganese superoxide dismutase (Mn-SOD) gene is related to pathogenesis of diabetes and whether the polymorphism is associated with stages of albuminuria in Korean type 2 diabetic patients. Genotype distributions were studied in 178 nondiabetic subjects and 371 type 2 diabetic patients of 3 groups with a normoalbuminuria group (Normo group, n = 244), a microalbuminuria group (Micro group, n = 86), and an overt albuminuria group (Macro group, n = 41). The albumin/creatinine ratio (ACR) was defined as a urinary albumin/creatinine ratio. V16A genotypes were determined with polymerase chain reaction-restriction fragment length polymorphism method. Between nondiabetic subjects and type 2 diabetic patients, Mn-SOD genotype distribution (VV/VA + AA, 146/32 vs 314/57) and A allele frequency (0.121 vs 0.104) were not different. Patients with nephropathy, Micro and Macro groups, had significantly lower A allele frequency, longer diabetic duration, higher prevalence of hypertension, and greater ACR than those of patients without nephropathy (P < .05). A allele was significantly less frequent with progression of nephropathy (Normo group, 0.119; Micro group, 0.073; Macro group, 0.03; P < .05). In type 2 diabetic patients, A allele carriers had significantly lower prevalence of hypertension and lesser ACR than those of A allele noncarriers (P < .01). In multivariate analysis, hypertension, duration of diabetes, serum total cholesterol level, and A allele of Mn-SOD gene were independently associated with stages of albuminuria. These results suggest that V16A polymorphism of Mn-SOD gene is not related to pathogenesis of diabetes but is associated with stages of albuminuria in Korean type 2 diabetes.

Adult↗
PubMed1999

Significant differences in the interleukin-1beta and interleukin-1 receptor antagonist gene polymorphisms in a Hungarian population with inflammatory bowel disease.

BACKGROUND: There is growing evidence of the importance of genetic predisposition and the activation of the mucosal immune system in the pathogenesis of inflammatory bowel disease. Thus, genes involved in the regulation of inflammation are receiving increased attention. We have studied whether Crohn's disease (CD) or ulcerative colitis (UC) is associated with certain allelic combinations of IL1B/IL1RA gene polymorphisms in a different European population than the ones studied so far. METHODS: Ninety-six patients with UC, 97 with CD, and 132 healthy individuals (HC) were typed for the polymorphic regions in exon 5 of the IL1B gene and in intron 2 of the IL1RA gene, using polymerase chain reaction-based methods. RESULTS: In CD homozygotes for allele 1 in IL1B gene polymorphism were more often present (72% versus 28%; P = 0.01) in the subgroup of patients carrying at least one copy of allele 2 in IL1RA gene polymorphism. This association was not found in HC (HC versus CD; P = 0.03) or UC. However, in UC patients with pancolitis a similar trend was observed (75% versus 25%). Several genotype combinations characterized by the presence of allele 2 of the IL1RA gene polymorphism were more common in CD (P = 0.001) and UC (P = 0.049) than in HC. CONCLUSIONS: Our data support the concept that CD and severe UC have a genetic disequilibrium in the distribution of IL1B and IL1RA gene polymorphisms. These findings together with functional studies will contribute to the understanding of the pathogenesis of the chronicity of inflammation in these diseases.

Adolescent↗
PubMed2002

Influence of functional MDR1 gene polymorphisms on P-glycoprotein activity in CD34+ hematopoietic stem cells.

BACKGROUND AND OBJECTIVES: Expression of the multidrug resistance P-glycoprotein, a transmembrane drug transporter, is influenced by recently described polymorphisms of the human MDR1 gene. Hematopoietic cells, such as lymphocytes, and hematopoietic stem cells, express P-glycoprotein, but the effect of MDR1 gene polymorphisms on P-glycoprotein activity in stem cells is unknown. We investigated whether T-129C, G26677T and C3435T polymorphisms influence P-glycoprotein function in stem cells. DESIGN AND METHODS: P-glycoprotein function was evaluated in immunomagnetically purified bone marrow CD34+ cells from 33 healthy bone marrow donors by the flow cytometric rhodamine 123-efflux assay. For T-129C and C3435T, bone marrow donors were genotyped by polymerase chain reaction amplification followed by MspA1I and DpnII digestion analyses, respectively. For the analysis of C2677T, exon 21 was sequenced. RESULTS: P-glycoprotein function was not different among the C3435T genotypes (CC, 38.2 +/- 3.5%; n=17; CT, 42.2 +/- 3.3%; n=11; and TT, 45.0 +/- 5.3%; n=5) nor was it among the C2677T genotypes (CC, 39.4 +/- 2.4%; n=27; CT, 43.7 +/- 6.4%; n=5; and TT, 54.3%; n=1). Among the 33 subjects, three were heterozygotes for the 129C allele (CT) and no mutant homozygote was identified. P-glycoprotein was similar in heterozygotes (TC, 50.6 +/- 2.9%) and wild-type subjects (TT, 39.5 +/- 2.4%). INTERPRETATION AND CONCLUSIONS: These findings suggest that the known functional MDR1 gene polymorphisms are not major determinants of P-glycoprotein function in hematopoietic stem cells. Other genetic variants might influence P-glycoprotein activity in this cell type.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed2003

[Effect of ACE gene polymorphism on left ventricular function in patients with type 2 diabetes].

The authors evaluated the influence of the ACE gene polymorphism on left ventricular function in patients with diabetes type 2. In a group of 23 patients left ventricular mass, global and regional systolic function of the left ventricle as well as diastolic function was assessed from transmitral flow using two-dimensional echocardiography. In a subgroup of patients with DD (n = 7) and ID genotype (n = 16), no significant differences were found in age (p = 0.19), duration of diabetes (p = 0.46), level of HbA1c (p = 0.10), cholesterol level (p = 0.18), quantitative proteinuria (p = 0.39), systolic and diastolic blood pressure (p = 0.25, p = 0.40). No association was found between insertion-deletion polymorphism of the ACE gene and observed echocardiographic parameters [left ventricular mass index (p = 0.43), EF (p = 0.46), wall motion index (p = 0.25), E wave (p = 0.14), A wave (p = 0.07), deceleration time of the E wave (p = 0.06), E/A (p = 0.07), flow propagation velocity (Vp) (p = 0.14) and E/Vp (p = 0.38)]. The presence of myocardial infarction, ischemic heart disease and hypertension had no association with ACE gene polymorphism (p = 0.53, p = 0.61 and p = 0.64). In conclusion, there is no association between ACE gene polymorphism and systolic and diastolic function of the left ventricle in this group of patients with diabetes type 2.

Aged↗
PubMed2006

Apolipoprotein A-V gene polymorphism -1131T>C and Alzheimer's disease.

Alzheimer's disease (AD) is the most common neurodegenerative disorder in the elderly and is also considered a progeroid genetic syndrome. The etiology of AD is complex and the mechanisms underlying its pathophysiology remain to be clarified. It has been suggested that a high serum cholesterol level is a risk factor for (AD), and that some polymorphisms of genes encoding proteins regulating cholesterol metabolism are associated with AD development. APOA5 is a recently discovered apolipoprotein involved primarily with triglyceride (TG) metabolism disorder. This study investigates the association of AD with the APOA5 gene -1131T>C polymorphisms in samples of 106 patients with Alzheimer's disease (AD), 76 elderly healthy controls and 93 young healthy controls. DNA samples were isolated from blood cells, amplified by PCR and digested with Tru1l. We observed that the genotype distributions of APOA5 variants were within Hardy-Weinberg equilibrium in all subject samples. Furthermore, chi-square test comparison for genotype distributions and allele frequencies did not reveal any significant difference among the three groups of subjects P>0.05). These results support the idea that these variants are not involved as a risk factor for developing AD.

Adult↗
PubMed2000

[Estrogen receptor gene polymorphism and its association with clinicopathological manifestation of lupus nephritis].

OBJECTIVE: To investigate the distribution of estrogen receptor (ER) in patients with lupus nephritis (LN), and the association between ER gene polymorphism and the clinical and pathological features of the disease. METHODS: The Pvu II and Xba I restriction fragment length polymorphism (RFLP) of estrogen receptor gene were analyzed in 245 biopsy proven LN patients (58 males and 187 females) and 172 normal controls(101 males and 71 females) by PCR-RFLP. The clinical and pathological features of 49 male and 152 female LN patients with genotype PpXx or Ppxx, ppxx were then analyzed respectively. RESULTS: It was found that genotype PpXx and ppxx, Ppxx were three major genotypes of ER gene in both lupus patients group and control group. The distribution of ER gene polymorphism was quite different in lupus patients of different genders. The frequency of the PpXx genotype was significantly higher in male LN patients than in both the gender matched normal controls (P<0.05) and the female LN patients (P<0.05), while no difference was shown in the frequency of PpXx genotype between female LN patients and female controls. Interestingly, varied clinical and renal pathological features were also demonstrated in female patients with different genotypes of ER gene. CONCLUSION: The distribution of ER gene polymorphism in LN patients varies with gender. The PpXx genotype of ER gene may be associated with the susceptibility of LN in male. ER gene polymorphism is probably one of the genetic factors contributing to the development of clinical heterogeneity and sexually dimorphic manifestations of LN.

Adolescent↗
PubMed2003

[The relationship between IL-13 gene polymorphism and the levels of serum IL-13 and serum eosinophil cation protein in asthmatic children].

OBJECTIVE: To explore the relationship between IL-3 gene polymorphism and the levels of serum IL-3 and eosinophil cation protein (ECP) for understanding the role of IL-3 gene polymorphism in the mechanism of childhood asthma. METHODS: The method of restriction fragment length polymorphism (RFLP) was adopted in detecting +1923 site polymorphism of IL-13 gene in intron 3 region, ELISA was employed in detecting the level of serum IL-13, and fluorescent enzyme-linked immunoassay was used to detect the level of serum ECP. RESULTS: The frequency distribution of TT, TC genotypes of IL-13 Intron 3+1923 site in asthmatic children was higher than that of CC genotype in normal control (P<0.05), and the levels of serum IL-13 and ECP of TT, TC genotypes were significantly higher than those of CC genotype respectively (P<0.01). CONCLUSION: The close relationship of IL-3 gene polymorphism with the levels of serum IL-13 and ECP suggests that IL-3 gene polymorphism may play an important role in the mechanism of childhood asthma.

Asthma↗
PubMed1999

CTLA4 gene polymorphism correlates with the mode of onset and presence of ICA512 Ab in Japanese type 1 diabetes.

Recently, the association of CTLA4 gene polymorphism with type 1 diabetes and AITD has been reported in several populations. CTLA4 was originally reported to regulate T-cell activity and T-B cognate interaction. To investigate the role of CTLA4 in autoimmune diseases, we examined the correlation between CTLA4 gene polymorphism and the clinical characteristics of Japanese patients with type 1 diabetes, including the mode of onset of diabetes and presence of islet-specific autoantibodies (GAD, ICA 512 Ab) in the serum. We studied 111 patients with type 1 diabetes and 445 normal subjects. CTLA4 exon 1 position 49 (A/G: codon 17: Thr/Ala) polymorphism was defined, employing PCR-RFLP. Sixty-three (57%) patients had AITD. The allele frequencies of G and A in both 111 patients (G: 65%; A: 35%) and 63 patients (G: 62%; A: 38%) were not significantly different from the control subjects (G: 63%; A: 37%). Serum samples of 69 patients were obtained within a year after onset and used for pancreas specific autoantibodies analysis. These samples were also used for further analysis between CTLA4 gene polymorphism and clinical characteristics. The allele frequencies of G and A in patients who presented with diabetic ketoacidosis (DK+) (G: 75%; A: 25%) were significantly different from those in DK- patients (G: 50%, A: 50%, P = 0.003). Allele and genotype analyses showed significant differences between DK+ patients and control subjects (P = 0.014, P = 0.046, respectively). Allele frequencies of G and A were not significant between patients who were positive and negative for GAD Ab, but significant for ICA 512 Ab (G: 83%, A:17% versus G: 59%, A: 41%: positive patients versus negative patients, P = 0.004). Our results showed a significant correlation between CTLA4 gene polymorphism and ICA 512 Ab. Our results also indicated that CTLA4 gene polymorphism is associated with the onset mode of Japanese type 1 diabetes and the presence of ICA512 Ab. Further analysis of this polymorphism is necessary to fully understand the pathogenesis and progression of type 1 diabetes.

Abatacept↗
PubMed2000

Effect of chemokine receptor gene polymorphisms on the response to potent antiretroviral therapy.

BACKGROUND: Both the natural history of HIV infection and the response to antiretroviral therapy are heterogeneous. Polymorphisms in chemokine receptor genes modulate the natural history of HIV-1 infection. In comparison with subjects with other genotypes, the prognosis for HIV-1-infected CCR5-delta32 heterozygotes is more favorable and that for CCR5 promoter allele 59029A homozygotes is less favorable. METHODS: HIV-1-infected adults with a CD4+ lymphocyte count > or = 200 cells x 10(6)/l and a plasma HIV RNA level > or = 1000 copies/ml were treated with indinavir, zidovudine and lamivudine for 6 months. HIV RNA levels were measured at 4-week intervals. Genotyping for chemokine receptor gene polymorphisms (CCR5-delta32, CCR5 59029A/G, CCR2-641) was performed. We examined whether the time to first HIV RNA < 200 copies/ml, frequency of viral suppression failure (HIV RNA > or = 200 copies/ml between weeks 16 and 28 of therapy), or reduction from the pre-treatment HIV RNA level differed by genotype. RESULTS: Time to first HIV RNA < 200 copies/ml was not predicted by genotype. Among 272 Caucasian patients, viral suppression failure was more common among patients with the CCR5 +/+ ¿ CCR2+/+ ¿ CCR5-59029 A/A genotype (28%) than among all other subjects combined (relative risk, 2.0; P = 0.06). After 24 weeks of therapy, genotype groups differed in the reduction of the HIV RNA level from baseline (P = 0.02); patients with the CCR5 +/+ ¿ CCR2+/+ ¿ CCR5-59029 A/A genotype had a mean reduction of 2.12 log10 copies/ml compared to 2.64 log10 copies/ml among all other groups combined. CONCLUSION: Polymorphisms in chemokine receptor genes may explain some of the heterogeneity in sustaining viral suppression observed among patients receiving potent antiretroviral therapy.

Adult↗
PubMed2000

An intron 4 gene polymorphism in endothelial cell nitric oxide synthase might modulate volume-dependent hypertension in patients on hemodialysis.

Nitric oxide (NO) has some relevance to the pathophysiology of hypertension. We examined the distribution of endothelial nitric oxide synthase (ecNOS4) gene polymorphism in patients with essential hypertension (n = 107) in comparison with healthy subjects (n = 362), and then studied the possibility that ecNOS4 gene polymorphism affects changes in blood pressure (BP) due to water load in hemodialysis patients. Though the NO metabolite (NOx) level in subjects with the a allele (31.2 +/- 1.76 micromol/l) was significantly lower than in those without the a allele (35.6 +/- 0.90 micromol/l) (p = 0.0263), we found no association between this gene polymorphism and essential hypertension. However, there still remains the possibility that the NO response to elevation of BP might be suppressed in patients with hypertension. In order to examine the association between ecNOS4 gene polymorphism and volume-dependent hypertension, 181 hemodialysis patients with complete anuria were recruited. Depending on the increase in mean BP (mm Hg) divided by percent increase in body weight (deltaBP/deltaBW), patients were divided into high responders (High-R: deltaBP/deltaBW >2.0 mm Hg; n = 90) and low responders (Low-R: deltaBP/deltaBW <2.0 mm Hg; n = 91). In the High-R group, the frequencies of a/a, b/a and b/b genotypes were 1.1, 32.1 and 66.8%, respectively, and in the Low-R group, these frequencies were 1.1, 9.4 and 89.5%, respectively. The relative risk for those in the High-R group conferred by the ecNOS4 a allele (b/a + a/a) was 3.64 (95% confidence intervals: 1.60-8.24, p = 0.0089). This study did not show a strong involvement of ecNOS4 gene polymorphism, at least in the basal NO production in patients with essential hypertension, however, it indicated that ecNOS4 gene polymorphism might modulate changes in BP due to water load in patients on hemodialysis, thus indicating that these polymorphisms may be involved in the pathophysiology of volume-dependent hypertension.

Alleles↗
PubMedDate not supplied

Insertion/deletion plasminogen activator inhibitor 1 and insertion/deletion angiotensin-converting enzyme gene polymorphisms in diabetic retinopathy in type 2 diabetes.

In an association study, the relationship between the insertion/deletion (I/D) plasminogen activator inhibitor 1 (PAI-1) gene polymorphism or the I/D angiotensin 1-converting enzyme (ACE) gene polymorphism and the development of diabetic retinopathy in patients with type 2 diabetes was investigated. One hundred and twenty-four subjects with type 2 diabetes and diabetic retinopathy were compared to 80 diabetic subjects without retinopathy with diabetes of a duration of more than 10 years. The PAI-1 gene distribution and ACE gene distribution in patients with diabetic retinopathy (4G4G 31.4%, 4G5G 46.8%, 5G5G 21.8%; DD 26.6%, ID 50.8%, II 22.6%) were not significantly different from those of diabetic subjects without retinopathy (4G4G 31.3%, 4G5G 50%, 5G5G 18.7%; DD 31.3%, ID 40%, II 28.7%). Neither the 4G/5G PAI-1 gene polymorphism nor the I/D ACE gene polymorphism contributed to the genetic susceptibility to diabetic retinopathy, either non-proliferative, proliferative or severe proliferative diabetic retinopathy, i.e. visual acuity of 0.1 or less in the better eye, in a group of Caucasian subjects with type 2 diabetes.

Aged↗
PubMed2006

Association of interleukin-1beta gene polymorphisms with precancerous gastric lesions in African Americans and Caucasians.

OBJECTIVE: Interleukin-1beta plays an important role in inflammation and gastric physiology. Polymorphisms of the IL1B gene have been associated with gastric atrophy and increased cancer risk, especially in Helicobacter pylori-infected subjects. The aim of this study was to evaluate the relationship between IL1B and IL1 receptor antagonist gene polymorphisms and the risk of multifocal atrophic gastritis in African Americans and Caucasians. METHODS: Genomic DNA was extracted from gastric biopsies of 269 adult outpatients (172 African Americans and 97 Caucasians) undergoing diagnostic upper gastrointestinal endoscopy. Histological diagnosis was evaluated according to the updated Sydney System and H. pylori status was assessed by Steiner silver stain. Polymorphisms of the IL1B gene (-511, -31, and +3954) and the IL1 receptor antagonist were investigated by PCR-RFLP. Logistic regression models were used to identify variables associated with multifocal atrophic gastritis in terms of odds ratios and 95% confidence intervals. RESULTS: Considering subjects with normal histology and nonatrophic gastritis as controls, a significant association was found between IL1B+3954T carrier and multiatrophic gastritis (OR 2.23, 95% CI 1.28, 3.88). Analyses stratified by ethnic group demonstrated similar associations in both African Americans (OR 2.23, 95% CI 1.14, 4.37) and Caucasians (OR 2.04, 95% CI 0.74, 5.65). A positive but not significant association was found between the allele 2 of the IL1RN and the presence of multifocal atrophic gastritis. The remaining proinflammatory polymorphisms were not associated with this precancerous lesion. CONCLUSIONS: Our results suggest that the presence of IL1B+3954T allele is a risk marker for multifocal atrophic gastritis in the population studied.

Adult↗
PubMed1994

Synergistic effects of angiotensin-converting enzyme and angiotensin-II type 1 receptor gene polymorphisms on risk of myocardial infarction.

We reported from our previous multicentre case-control study that the deletion (D) polymorphism of the gene encoding angiotensin-converting enzyme (ACE) was associated with increased risk of myocardial infarction. The main function of ACE is to convert angiotensin I into angiotensin II, which exerts its known cellular actions through the angiotensin II AT1 receptor subtype (AGT1R). We have now investigated the role of a common polymorphism of the AT1 receptor gene (an A-->C transversion at position 1166 of AGT1R) and looked for an interaction between ACE and AGT1R gene polymorphisms on the risk of myocardial infarction. We analysed DNA from 613 patients with myocardial infarction and 723 age-matched population controls. We found a significant interaction between ACE and AGT1R gene polymorphisms; the odds ratio for myocardial infarction associated with the ACE DD genotype was 1.05 (95% CI 0.75-1.49) for subjects without the AGT1R C allele, 1.52 (1.06-2.18) in AC heterozygotes, and 3.95 (1.26-12.4) in CC homozygotes (test for trend, p < 0.02). Among patients defined as low risk by traditional risk factors (serum apolipoprotein B < 1.25 g/L, body-mass index < 26 kg/m2) the interaction was even stronger (odds ratios 1.64 [0.68-3.92], 7.03 [2.61-19.0], and 13.3 [p = 0.05], respectively). These findings, if confirmed, could have clinical implications for the prevention and treatment of coronary heart disease.

Adult↗