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At least 523 records · Page 29Linked to original sources
PubMed2000

Vitamin D receptor and estrogen receptor gene polymorphisms in postmenopausal Danish women: no relation to bone markers or serum lipoproteins.

OBJECTIVE: To investigate the polymorphisms of the vitamin D receptor (VDR) and estrogen receptor (ER) genes in relation to biochemical markers of bone turnover (serum osteocalcin and urinary collagen type I degradation products (CrossLaps), and to study ER genotypes in relation to serum lipoproteins, blood pressure, or changes in these parameters after 2 years of hormone replacement therapy (HRT) in 499 Danish postmenopausal women. METHODS: The VDR gene polymorphisms were determined by means of the three restriction enzymes, i.e. BsmI, ApaI and TaqI, while the ER gene polymorphisms were determined by means of the PvuII and XbaI restriction enzymes. Serum osteocalcin, urinary CrossLaps and the lipoproteins were also assessed. Body mass index was recorded. RESULTS: The VDR or ER genotypes did not differ significantly with respect to age, age at menopause or body mass index. No significant effect of VDR or ER genotype on bone turnover was found. Furthermore, we were unable to find any relationship between ER genotype and lipoproteins or blood pressure at baseline, or changes in these parameters during HRT. CONCLUSION: A clinically significant relationship between VDR and ER genotypes and biochemical markers of bone turnover or serum lipoproteins could not be demonstrated in healthy Danish postmenopausal women.

Aged↗
PubMed2006

Association of sudden infant death syndrome with VEGF and IL-6 gene polymorphisms.

In the UK, Sudden Infant Death Syndrome (SIDS) is a major cause of postperinatal mortality up to the end of the first year of life. Several studies have found an association between cytokine IL-10 genotypes and SIDS. The aim of the present work was to test the hypothesis that SIDS is associated with high producer gene polymorphisms for certain proinflammatory cytokines and with low producer gene polymorphisms of certain antiinflammatory cytokines. DNA polymorphisms were investigated using sequence-specific primer (SSP)-polymerase chain reaction (PCR). Results demonstrated that SIDS and controls did not differ significantly with respect to genotype distributions for IL-4 -590 (chi(2) test, p = 0.164), IFN- gamma +874 (p = 0.050), or TGF-beta1 +869 (p = 0.322). However, significant associations with SIDS were seen for genotypes of VEGF -1154 (p = 0.005) and IL-6 -174 (p = 0.018). Comparison of allele frequencies for these cytokine genes between SIDS and control groups reflected the genotype data. Allele frequencies that did not demonstrate significant differences between test groups were IL-4 -590*T (chi2, p = 0.104), IFN- gamma +874*A (p = 0.052), and TGF-beta1 +869*C (p = 0.468). Those demonstrating significant differences between SIDS and control groups were VEGF -1154*A (p= 0.002, OR = 2.94, CI 1.46-6.02) and IL-6 -174*G (p= 0.034, OR = 2.18 CI 1.05-4.56). Thus, there are associations between SIDS and particular polymorphisms of VEGF and IL-6 cytokine genes in addition to those previously found in Manchester with another cohort of samples for the antiinflammatory cytokine IL-10. Moreover, these gene polymorphism associations suggest that the causation of SIDS is related to both fetal lung development and a child's innate ability to mount an inflammatory response to infection.

Genetic Predisposition to Disease↗
PubMed2000

Contribution of TNF-alpha and IL-10 gene polymorphisms to graft-versus-host disease following allo-hematopoietic stem cell transplantation.

Some cytokines are believed to play a role in the development of acute and chronic GVHD after allo-hematopoietic stem cell transplantation. It has been reported that TNF-alpha and IL-10 gene polymorphisms are associated with the production of those cytokines and the development of graft failure after organ transplantation and systemic lupus erythematosus. We examined whether TNF-alpha and IL-10 gene polymorphisms affect the severity of acute GVHD (aGVHD) and chronic GVHD (cGVHD). Sixty-two and 54 patients were available for the analysis of aGVHD and cGVHD, respectively. We analyzed the gene polymorphisms derived from pre- and post-transplant blood cells. Donor-derived TNF2 allele (A) was more frequently detected in patients with aGVHD III/IV than those aGVHD 0-II (2/6 vs 2/56) (P = 0.04). The donors of the patients with cGVHD more frequently possessed a greater number of alleles (allele 13 or more which contain 26 or more CA repeats) in IL-10.G than those without (13/26 vs 5/28) (P = 0.02), and the patients with cGVHD had more CA repeats in donor-derived IL-10.G than those without (mean = 25.2 vs 23.4) (P = 0.01). Donor-derived TNF-308 and IL-10.G alleles may contribute to severe aGVHD and cGVHD, respectively, and will help us distinguish those patients at high risk for GVHD.

Acute Disease↗
PubMed1999

Interleukin-1beta, interleukin-1 receptor antagonist, interleukin-4, and interleukin-10 gene polymorphisms: relationship to occurrence and severity of rheumatoid arthritis.

OBJECTIVE: To test if interleukin-1beta (IL-1beta), IL-1 receptor antagonist (IL-1Ra), IL-4, or IL-10 gene polymorphisms could be used as markers of susceptibility or severity in rheumatoid arthritis (RA). METHODS: The study included 108 patients with early RA followed up for 2 years and 128 healthy controls. From genomic DNA, 6 polymorphisms in genes for IL-1beta, IL-1Ra, IL-10, and IL-4 were typed. Allelic frequencies and carriage rates were compared between RA patients and controls, between patients with erosive and nonerosive RA, and between patients with or without sustained remission. RESULTS: The RP1 allele of the IL-4 gene was found with a significantly higher frequency in RA patients compared with controls. The combination of an RA-related HLA-DR allele expressing shared epitope and the presence of allele E2 in IL-1beta exon 5 was found to expose patients to an increased risk of erosive disease, with an odds ratio of 8.20 (95% confidence interval 2.59-25.84, P < 0.0001). No significant association was observed between polymorphisms and the occurrence of sustained remission. CONCLUSION: This report, for the first time, indicates an association between RA and a polymorphic IL-4 gene sequence located in 5q31-33. In addition, the results show the prognostic value of a polymorphism in IL-1beta exon 5, which allowed prediction of erosive disease with a specificity of 91.8% in 42.1% of patients. Although these observations are very interesting, they have to be considered preliminary and will need to be confirmed.

Arthritis, Rheumatoid↗
PubMed2003

Influence of interleukin-1 gene polymorphism on periodontal regeneration in intrabony defects.

The aim of this controlled retrospective study was to evaluate the influence of an IL-1 gene polymorphism on the clinical and radiographic healing outcomes of GTR therapy. The study included 47 adult periodontitis patients with 94 deep intrabony defects treated by GTR using different membrane materials. The following clinical parameters were recorded at baseline and 12 months after surgery: papillary bleeding index (PBI), gingival recession (REC), probing pocket depth (PPD), clinical attachment level (CAL), and the vertical relative attachment gain (V-rAG). Bone changes in the defect regions due to GTR therapy were quantitatively evaluated using digital subtraction radiography (DSR). Polymorphisms of the IL-1A gene at position - 889 and of the IL-1B gene at position + 3953 were analyzed by PCR. Statistical analysis was performed using the Mann-Whitney-U and the Wilcoxon-Signed-Rank tests (alpha = 0.05). The study comprised 19 IL-1 genotype positive (IL-1 +) patients and 28 IL-1 genotype negative (IL-1 -) patients. Twelve months after GTR therapy, both patient groups revealed statistically significant PPD reductions and CAL gain [median (25/75% percentiles)]: Delta PPD [IL-1 + : 4.0 (2.5/5.0) mm; IL-1-: 3.8 (3.0/4.9) mm], Delta CAL [IL-1 + : 3.5 (3.0/4.8) mm; IL-1 -: 3.0 (1, 2/4, 5) mm]. V-rAG amounted to 60.0 (47.7/78.6)% in IL-1 + patients and 53.1 (43.4/81.9)% in IL-1 - patients. Both patient groups showed significant bone density gain in 40% (IL-1 +) and 43.6% (IL-1 -) of the initial defect area due to GTR. Neither the clinical nor the radiographic healing parameters revealed any statistically significant differences in the GTR healing outcome between IL-1 + and IL-1 - patients. In conclusion, these 12-month findings indicate that the IL-1 gene polymorphism has no influence on the clinical and radiographic regeneration results following GTR therapy.

Adult↗
PubMed2001

Vitamin D receptor gene polymorphism detected by digestion with Apa I influences the parathyroid response to extracellular calcium in Japanese chronic dialysis patients.

BACKGROUND: To play its physiological role, 1,25(OH)2D3 must bind to a specific vitamin D receptor (VDR) in the nucleus. We have previously reported that VDR gene polymorphism influences the parathyroid function in patients with end-stage renal disease (ESRD). In the present study, we have investigated the relationship between the parathyroid responsiveness and VDR gene polymorphism, as detected by the Apa I restriction enzyme, by changing the concentration of Ca2+ in the dialysate. METHODS: 58 Japanese ESRD patients undergoing renal replacement therapy in our institution were evaluated. Genomic DNA was extracted from peripheral leukocytes and digested at the intron between exon 8 and exon 9 of the VDR gene using Apa I enzyme. Then alleles were classified into genotype A (undigested allele) and genotype a (digested allele). Extracellular ionized calcium ([Ca2+]e), serum phosphate, and intact parathyroid hormone (PTH) were measured before and after each hemodialysis (HD) session with dialysates having different concentrations of Ca2+ (1.5 or 1.25 mmol/l). The significance of differences in statistical analyses was defined within confidence limits of 5.0%. RESULTS: The AA, Aa, and aa genotypes were observed in 7/58 patients (12.1%), 23/58 patients (39.6%), and 28/58 patients (48.3%), respectively. The PTH reduction after HD with the 1.5-mmol/l Ca dialysate did not differ significantly between group AA+Aa and group aa. On the other hand, the PTH increase was significantly higher in group aa than in group AA+Aa after HD with the 1.25-mmol/l Ca dialysate (p = 0.0107), despite a similar PTH level before HD. Similarly, the percent increase of PTH after HD with the 1.25-mmol/l Ca dialysate was significantly higher (p = 0.0112) in group aa (50.2 +/- 9.4%) than in group AA+Aa (19.7 +/- 7.2%). There were no significant differences between the two groups in [Ca2+]e nor in serum phosphorus (Pi) before and after HD with either dialysate. Group AA+Aa and group aa did not show statistically significant differences in age, female/male ratio, ratio of diabetic nephropathy, or dialysis period. CONCLUSIONS: The study results showed that the patients in group aa were more sensitive to changes in [Ca2+]e than those in group AA+Aa. Moreover, they suggested that the VDR gene polymorphism may affect parathyroid responsiveness to changes in [Ca2+]e, which in turn may influence onset and progression of hyperparathyroidism in ESRD patients.

Alleles↗
PubMed2003

Apolipoprotein E gene polymorphisms in patients with premature myocardial infarction: a case-controlled study in Asian Indians in North India.

OBJECTIVES: Several factors, including abdominal obesity, insulin resistance, diabetes mellitus and low levels of high-density lipoprotein cholesterol have been implicated in the high prevalence and early onset of coronary heart disease in Asian Indians. However, there are no reports regarding the role of apolipoprotein E (apo E) gene polymorphisms in premature myocardial infarction (MI) in this population. This study aimed to study the role of apo E gene polymorphisms in premature MI patients and their relation to serum lipid levels. DESIGN AND METHODS: Apo E gene polymorphisms were analysed in 35 patients with MI aged <40 years and in 45 age- and sex-matched controls using polymerase chain reaction-restriction fragment length polymorphism. Levels of serum lipids were measured in addition to the evaluation of conventional risk factors. RESULTS: Higher frequencies of the apo E4 allele (P<0.0001) and of genotypes E3/E4 (P<0.005) and E4/E4 (P<0.005) were recorded in the premature MI group compared with the controls. Multivariate regression analysis revealed that, after adjusting for other covariates, individuals with the E4 allele were at ~46 times higher odds to develop premature MI compared with individuals without the E4 allele [adjusted odds ratio, OR (95% confidence interval, CI): 45.7 (4.9-421.3)]. Among conventional risk factors, higher risk was observed in those having dyslipidaemia [OR (95% CI): 8.7 (0.9-86.6)] and those with a high waist : hip ratio [OR (95% CI): 5.6 (1.4-21.2)]. CONCLUSION: Based on the robust association, the apo E4 allele should be considered as an independent risk factor for premature MI in Asian Indians.

Adult↗
PubMed1999

Association of fatty acid synthase gene and malic enzyme gene polymorphisms with fatness in turkeys.

A candidate gene approach was carried out on a commercial line of turkeys to assess the association between fatness variability and polymorphisms of genes involved in lipid metabolism. Four restriction fragment length polymorphisms (RFLP) were typed on the fatty acid synthase gene (MspI/pF5), on the malic enzyme gene (HindIII/em), as well as on the acetyl coenzyme A carboxylase and delta9 desaturase genes. Fatness level was estimated in vivo by an ultrasonic instrument. Fat yield was assessed after slaughter by calculating the ratio of the leg skin plus subcutaneous fat weight to the whole leg weight. Finally, the lipid content was determined by extraction from the boneless leg. The 84 female turkeys sampled were full and half-sibs born from eight sires, seven of which were heterozygous for MspI/pF5 or HindIII/em RFLP and one of which was double homozygous at these loci. The analyses of variance used to compare the genotypes at each RFLP suggested a major role associated with the fatty acid synthase gene polymorphism in the explanation of fatness variability. One homozygous genotype for MspI/pF5 was about 1.5 standard deviations leaner than the other two homozygous genotypes. An analysis of the average effects of gene substitution confirmed the association between leanness and one allele of the fatty acid synthase polymorphism. It also identified a significant association between leanness and one malic enzyme RFLP allele, congruent with a strictly additive determinism for the effect associated with this polymorphism. This experiment provided new evidence of the association between both fatty acid synthase and malic enzyme gene polymorphisms and fatness variability in turkeys.

Animals↗
PubMed2006

Proinflammatory cytokine gene polymorphisms among Hashimoto's thyroiditis patients.

Proinflammatory cytokines are involved in the pathogenesis of Hashimoto's thyroiditis (HT). To test whether certain specific proinflammatory cytokine gene polymorphisms could be genetic markers for an individual's susceptibility to HT, we investigated single-site polymorphisms of certain proinflammatory cytokine genes of interest for 107 HT sufferers and 163 controls, subsequent to preparing the necessary experimental genomic DNA from peripheral blood, using a polymerase chain reaction (PCR)-based restriction analysis. The polymorphisms we detected were as follows: 1) C/T and E1/E2 polymorphisms for the interleukin (IL)-1beta gene at promoter (-511) and exon 5, respectively; 2) a variable number of tandem repeats (VNTRs) for the IL-1 receptor antagonist (IL-1Ra) gene at intron 2; 3) a C/G polymorphism for the IL-6 gene at promoter (-572); and 4) an A/G polymorphism for the tumor necrosis factor (TNF)-alpha gene at promoter (-308). The data demonstrated an increased ratio of CG genotype and decreased ratios of CC and GG genotypes (chi-squared test; P = 0.025) for the IL-6 gene promoter for HT patients when compared with normal controls. The odds ratio (OR) for the CG genotype, as compared to the GG genotype, for HT patients was shown to be 4.065 (95% confidence interval (CI): 1.268-13.032). Comparison of the genotype analysis for the remaining gene polymorphisms and the allelic analysis for all of the screened gene polymorphisms, however, all revealed no statistically significant difference between the two study groups as regards frequency of genotype. In conclusion, we suggest that an IL-6 gene promoter (-572) C/G polymorphism could represent a potential "candidate" genetic marker to predict an individual's susceptibility to HT.

Adolescent↗
PubMed2004

[Impact of angiotensin-converting enzyme, angiotensinogen, endothelial NO synthase, and bradykinin receptor B2 gene polymorphisms on myocardium in patients with hypertension and in athletes].

We investigated the role of gene polymorphisms in angiotensin-converting enzyme (ACE), angiotensinogen, endothelial NO (eNO) synthase, and bradykinin receptor B2 in determining the cardiovascular system structure and function in hypertension and "athletic heart" syndrome. Using a PCR-based method, 114 hypertensive patients and 94 athletes were genotyped for I/D polymorphism of ACE, M235T angiotensinogen (ANG), Glu298 Asp endothelial synthase (eNOS), and type 2 receptor for bradykinin (BDKR2). Echocardiography and a 24 hour blood pressure monitoring being performed. The (+)-allel of BDKR2 gene was associated with the left ventricular hypertrophy and greater wall thickness in athletes and hypertensive subjects. The hypertensive patients, that were homozygous for Glu298 allele of eNOS, demonstrated a lower level of diastolic blood pressure than did those with Glu298 Asp and Asp298 Asp genotypes. At the same time, the ACE and AND gene polymorphisms displayed no association with the cardiac structure and function.

Adult↗
PubMed2001

Relationship between gene polymorphism of the PAI-1 promoter and myocardial infarction.

OBJECTIVE: To investigate the association between gene polymorphism of the plasminogen activator inhibitor-1 (PAI-1) and myocardial infarction (MI) in Chinese. METHODS: PAI-1 genotyping with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele specific polymerase chain reaction (ASPCR) was performed in 87 myocardial infarction patients and 92 unrelated healthy controls. All subjects' clinical features and PAI-1 activity were tested. RESULTS: There were two polymorphisms within the promoter, a G/A single base substitution polymorphism upstream at -844 bp, and a single guanosine deletion/insertion 4G/5G polymorphism -675 bp upstream from the start of transcription. Significant differences between the patients and the controls were observed neither for the frequencies of the GG, GA and AA genotypes nor for the PAI-1 activities of these three types. But for the 4G/5G polymorphism, there were significant differences between patients and controls for the frequencies of the 4G/4G, 4G/5G and 5G/5G genotypes (P < 0.05). In the MI group, the PAI-1 activity of the 4G/4G type was significantly higher than that of the 5G/5G type (P < 0.05). Further more, a positive correlation between the glucose level and PAI-1 activity was found (r = 0.34, P = 0.02). CONCLUSION: This study indicates that the 4G/5G gene polymorphism of PAI-1 is associated with myocardial infarction, that 4G/4G type is probably an important hereditary risk factor, and that glucose has functional importance in regulating PAI-1 activity.

Adult↗
PubMedDate not supplied

Manganese superoxide dismutase gene polymorphisms in psoriatic arthritis.

The purpose of the present study is to investigate the role of manganese superoxide dismutase (MnSOD) gene polymorphisms in the susceptibility to psoriatic arthritis. MnSOD gene polymorphisms were determined by polymerase chain reaction/restriction fragment length polymorphisms method in fifty-two patients with psoriatic arthritis and 90 healthy controls.The genotype frequency of MnSOD 1183C/T was significantly higher in patients with psoriatic arthritis than in controls. In contrast, the frequency of MnSOD 1183T/T was significantly decreased in patients with psoriatic arthritis. The phenotype frequency of MnSOD 1183C was significantly increased in patients with psoriatics arthritis in comparison to healthy controls.Therefore, MnSOD 1183C polymorphisms may be a precipitating factor for the development of psoriatic arthritis.

Arthritis, Psoriatic↗
PubMed1998

Serum oestradiol and oestrogen-receptor gene polymorphism are associated with bone mineral density independently of serum testosterone in normal males.

OBJECTIVES: The physiological effects of oestrogens on bone in men were largely unanticipated until recently, when oestrogen deficiency in males with aromatase deficiency and oestrogen resistance was found to cause osteoporosis and delayed fusion of epiphyses despite sufficient serum testosterone. This raises the possibility that in normal men oestrogens rather than androgens are of physiological importance in bone maturation. In the present study, we examined the association of serum oestradiol (E2) compared to that of free testosterone (FT) with bone mineral density (BMD) in normal men. The effect of oestrogen receptor (ER) gene polymorphism on BMD in men was also addressed. SUBJECTS: Eighty-one Thai men aged 20-79 years. All were healthy and did not take medication which may affect calcium and bone metabolism. BMD was assessed by DEXA. Dietary calcium was assessed by a 3-day dietary record. Serum E2 and FT concentrations were measured by radioimmunoassay. Polymorphism at intron 1 of the alpha isoform of ER gene was determined by PCR-RFLP. Small p represents the presence of the restriction site while capital P indicates the absence of the restriction site. RESULTS: Serum FT decreased with increasing age (r = -0.58, P < 0.0001) while E2 did not. However, there was a positive association between E2 and FT (r = 0.28, P < 0.05). Serum FT was related to BMD at femoral neck (r = 0.26, P < 0.05) and Ward's triangle (r = 0.30, P < 0.01) while E2 was related to BMD at anteroposterior (AP) lumbar spine (r = 0.29, P < 0.05), femoral neck (r = 0.23, P < 0.05) and femoral trochanter (r = 0.27, P < 0.05). Besides FT and E2, age, body weight, fat mass and fat-free mass were also correlated to BMD at various skeletal sites. Using stepwise multiple linear regression to control for the confounding effects among these factors, fat-free mass was found to be strongly associated with BMD at most skeletal sites. Serum E2 was related to BMD independently of other factors including FT at AP lumbar spine (r = 0.22, P < 0.05), femoral neck (r = 0.26, P < 0.01), femoral trochanter (r = 0.22, P < 0.05) and Ward's triangle (r = 0.26, P < 0.01) while serum FT was not associated with BMD at any site after controlling for E2 and other related factors. Concerning ER alpha gene polymorphism, 27 (33.3%) of the subjects had pp genotype, while 42 (51.9%) and 12 (14.8%) Pp and PP genotypes, respectively. After controlling for age, body weight, fat mass, fat-free mass, calcium intake, FT and E2, the presence of P allele was associated with higher BMD at AP L2-L4 (P < 0.05). CONCLUSIONS: Serum oestradiol is more related to bone mass than free testosterone in normal men. Oestrogen-receptor gene polymorphism is also associated with bone mass in men independently of oestradiol levels. Serum oestradiol together with oestrogen-receptor genotype may partly determine bone mass in males.

Adult↗
PubMed1998

[Association between the debrisoquine hydroxylase gene polymorphism and the genetic susceptibility of Parkinson's disease].

OBJECTIVE: To clarify the relation of the debrisoquine hydroxylase gene polymorphism with the genetic susceptibility of Parkinson's disease. METHODS: The debrisoquine hydroxylase gene polymorphisms were analyzed with the polymerase chain reaction-restriction fragment length polymorphism methods in 100 cases of Parkinson's disease and 100 age-,sex-matched normal controls. RESULTS: It was found that the frequencies of A and B mutation of debrisoquine hydroxylase gene in group of patients were higher than those in the controls, and the risk of suffering Parkinson's disease increased 2 times. In group of the patients, the frequencies of C188-->T, G4268-->C and C2938-->T were also higher than those in the controls. Especially in those with C2938-->T mutation, the risk of suffering the disease increased 2.58 times. CONCLUSION: The result suggested that the defect of the detoxifying enzymes might be a factor contributing to the genetic susceptibility of Parkinson's disease.

Adult↗
PubMed2006

Association of estrogen receptor gene polymorphisms with susceptibility to adolescent idiopathic scoliosis.

STUDY DESIGN: A case-control study is presented. OBJECTIVE: To investigate the association of estrogen receptor gene polymorphisms with adolescent idiopathic scoliosis (AIS) risk. SUMMARY OF BACKGROUND DATA: Previous studies have shown that genetic factors are important in the pathogenesis of idiopathic scoliosis. Only 1 publication suggested that XbaI site polymorphism was associated with curve severity of idiopathic scoliosis. However, to our knowledge, the relationship of estrogen receptor gene polymorphisms and the individual susceptibility to idiopathic scoliosis has not been studied. METHODS: This study included 202 patients with AIS and 174 healthy controls. Height, menarche status, curve pattern, Cobb angle, and Risser sign in female patients were recorded. There were 2 polymorphic loci, PvuII and XbaI locus, of estrogen receptor analyzed by restriction fragment length polymorphisms. RESULTS: The frequency of XX genotype was significantly higher in patients than that in controls (P = 0.005). The X allele appeared to be overrepresented in patients compared with controls (P = 0.001). Furthermore, the frequencies of XX genotype in female patients whose height was > or = 160 cm and Cobb angle > or = 40 degrees were higher than those whose height was <160 cm and Cobb angle <40 degrees (P = 0.001 and P < 0.001, respectively). CONCLUSIONS: The XbaI site polymorphism of estrogen receptor gene may be associated with a risk of AIS.

Adolescent↗
PubMed2000

[Association between cytochrome P-450 enzyme gene polymorphisms and Parkinson's disease].

OBJECTIVE: To explore the association between cytochrome P-450 enzyme gene polymorphisms and Parkinson's disease (PD). METHODS: The polymorphisms of CYP1A1 and CYP2E1 gene were analyzed in 158 PD patients and 150 unrelated healthy controls with PCR-RFLP and ASA techniques. RESULTS: (1) Of the 46 patients with early-onset PD, the frequency of the m2 allele was significantly higher than that in their matched controls, with an odds ratio of 2.459 (P < 0.005); the frequencies of the m1m2 and m2m2 genotypes were significantly higher than those in their matched controls with odds ratios of 2.99 (P < 0.01) and 6.22 (P < 0.025), respectively. In contrast, no differences were observed when the frequencies of individuals with the CYP1A1 MspI alleles or genotypes among patients with late-onset PD and their matched controls were compared (all P > 0.05). (2) Of the 46 patients with early-onset PD, the frequency of the G allele was significantly higher than that in their matched controls, with an odds ratio of 2.432 (P < 0.005); odds ratio was 6.167 in homozygotes for G allele (P < 0.01). Similarly, the frequency of the G allele was also significantly higher in late-onset PD patients than in their matched controls, with only an odds ratio of 1.649 (P < 0.01). In contrast, no differences were observed when the frequencies of individuals with the CYP1A1 exon 7 A4889G polymorphic locus genotypes among patients with late-onset PD and their matched controls were compared (P > 0.05). (3) No differences were observed when the frequencies of individuals with the CYP2E1 RsaI and PstI alleles or genotypes among patients with early- and late-onset PD and their matched controls were compared (all P > 0.05). CONCLUSIONS: Our data suggest that CYP1A1 gene polymorphisms might be a genetic susceptible factor for early-onset PD, and CYP2E1 RsaI and PstI polymorphisms might not be a genetic susceptible factor for both early- and late-onset PD in the Chinese population tested.

Adult↗
PubMed2005

Sudden hearing loss and MTHFR 677C>T/1298A>C gene polymorphisms.

PURPOSE: Sudden hearing loss (SHL) can be caused by vascular disorders favoring impaired cochlear perfusion. A number of inherited prothrombotic risk factors have been considered in the pathogenesis of vascular impairment and the possible role of genetic alterations has recently been suggested. We aimed to investigate the relationship between SHL and MTHFR 677 and 1298 gene polymorphisms. METHODS: DNA genotyping was performed on peripheral blood leukocytes in 45 SHL patients and 135 controls. RESULTS: Wild-type MTHFR (677CC/1298AA) was significantly more frequent in the controls (P=0.01), and gene polymorphisms (677CT, 677TT, 1298AC, 1298CC, compound 677CT/1298AC) were significantly more frequent in the patients (P=0.005; Ptrend=0.001). CONCLUSION: These data suggest that MTHFR gene polymorphisms may be considered as risk factors for SHL and participate on vascular impairment related to this disorder. Further studies, based on large series of patients, are needed to definitely assess the role of this prothrombotic factor in the etiopathogenesis of SHL.

Case-Control Studies↗
PubMed2002

The double heterozygote of two endothelin-1 gene polymorphisms (G8002A and -3A/-4A) is related to big endothelin levels in chronic heart failure.

The aim of this study was to focus on the relationship among the associated genotypes of G (8002) A and -3A/-4A endothelin-1 (ET-1) gene polymorphisms and some clinical and/or biochemical parameters in Czech (Caucasian) patients with chronic heart failure. Included in the study were 103 patients with chronic heart failure (functional classes NYHA II-IV, ejection fraction < 40%). The ET-1 gene polymorphisms were detected by polymerase chain reaction (PCR) and restriction fragment length polymorphism methods. A significant decrease in the ET-1-associated genotype AG3A4A number (double heterozygote) was observed in CHF patients with plasma big endothelin levels above 0.7 pmol/L compared to those with levels below 0.7 pmol/L (OR = 0.19; 95% confidence interval = 0.06-0.57; P = 0.005; Pcorr = 0.03). We found a significant decrease in the AG3A4A genotype number in the other groups compared to the group of patients with both big endothelin and endothelin-1 levels under 0.7 pmol/L (OR = 0.22; 95% confidence interval = 0.07-0.79; P = 0.02). The double heterozygote variants of two ET-1 gene polymorphisms were associated with significantly less risk for chronic heart failure with higher levels of big endothelin.

Adult↗