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At least 505 records · Page 28Linked to original sources
PubMed2001

Paraoxonase 1 192 Gln/Arg gene polymorphism and cerebrovascular disease: interaction with type 2 diabetes.

Paraoxonase 1 (PON1) is an HDL-associated enzyme which protects HDL and LDL particles from lipid peroxidation. Its enzymatic serum activity varies 10-40-fold between individuals, and its biallelic gene polymorphism at codon 192 (glutamine-->arginine, Gln/Arg) has been associated with coronary artery disease in diabetic patients. To evaluate the role of this PON1 gene polymorphism in cerebrovascular disease, we determined the PON1 192 genotype in 149 patients with hemodynamically relevant extracranial artery stenosis and in 241 controls. The PON1 192 Gln/Arg genotype was determined using polymerase chain reaction followed by Alw I digestion and polyacrylamide gel electrophoresis. Among all subjects, there was no association between the PON1 192 Gln/Arg genotype and cerebrovascular disease (Odds ratio for Arg/Arg and Gln/Arg vs Gln/Gln 0.99, 95%-CI 0.70-1.39). In contrast, in the subgroup of type 2 diabetic patients the PON1 192 Arg allele conferred about twice the risk of cerebrovascular stenosis compared to those homozygous for the Gln allele (Odds ratio 2.00, 95%-CI 0.92-4.38). Our data indicate that in the general population the PON1 192 Gln/Arg gene polymorphism cannot be regarded as a major risk marker for cerebrovascular disease. The observed interaction with type 2 diabetes, however, is supporting the hypothesis that the effect of the PON1 192 Arg allele on atherosclerosis is modulated by other risk factors like diabetes.

Aged↗
PubMed2003

Associations between cytokine gene polymorphisms and recurrent pregnancy loss.

Since certain cytokines may play a role in unexplained recurrent pregnancy loss (RPL) and also some cytokine gene polymorphisms may affect the level of cytokine production, the aim of the present study was to investigate the relationship between RPL and polymorphisms of the genes coding for TNF-alpha (-308 G-->A), IL-10 (-1082 G-->A), IL-6 (-174 G-->C), and IFN-gamma (+874 A-->T). Genotyping was performed in 48 RPL women and 108 ethnically matched healthy individuals. In addition, we performed a meta-analysis encompassing the present results and those from studies on the association of TNF-alpha, IL-10 and IFN-gamma polymorphisms with RPL published in the literature until December 2001. The results showed: (1) no evidence of association with IL-6 gene polymorphisms; (2) significant associations, revealed by the meta-analysis, with the high cytokine production genotypes of IFN-gamma (+874 T/T: odds ratio (OR)=1.92, P=0.04) and IL-10 (-1082 G/G: OR=1.75, P=0.03), and a trend for association with the high TNF-alpha production genotypes -308 A/A and A/G (OR=1.61; P=0.18). We believe that the associations of these genotypes with RPL are interesting not only as risk factors but also because they represent another piece of evidence that these cytokines might be important in the pathogenesis of RPL.

Abortion, Habitual↗
PubMed2000

Association between two types of vitamin d receptor gene polymorphism and bone status in premenopausal Japanese women.

Polymorphisms in the vitamin D receptor (VDR) gene using ultrasound (US) bone mass and bone metabolic markers were investigated as potential genetic markers for osteoporosis in 126 premenopausal Japanese women aged 27.2 +/- 10.1 (mean +/- SD) years. The relationship between their VDR gene polymorphisms and bone states was determined. VDR genotypes were based on the absence (B) or presence (b) of the Bsm I restriction site (B polymorphism), and ATG (the M allele) and ACG (the m allele) sequences at the translation initiation site (M polymorphism). Genotype frequencies were 73.8%, bb; 24.6%, Bb; 1.6%, BB; 15.1%, MM; 51.6%, Mm and 33.3%, mm. The stiffness index of calcaneal bone minerals measured by an US bone densitometer was significantly higher in the mm types (P <0.05 versus MM) than in the Mm types (P <0.01 versus MM) and MM types. There was no significant difference between in B polymorphisms. Furthermore, bone mass was correlated with serum bone type alkaline phosphatase (ALP) activity and urinary deoxypyridinoline concentration in M polymorphisms. Because the distribution of B polymorphisms in each M polymorphism genotype did not differ, M polymorphisms were affected independently from B polymorphisms to bone mass or bone metabolic markers. No significant difference was observed in nutritional intake and food consumption among genotypes. In the MM and Mm types, the bone mass was closely related to the frequency of milk intake during the periods of elementary and junior high school. In contrast, bone mass was not associated with nutritional intake or the frequency of past milk intake in B polymorphisms. Therefore, the M polymorphism of the VDR gene is a stronger genetic indicator of osteoporosis than the B polymorphism in premenopausal Japanese woman.

Adult↗
PubMed2001

[Gene polymorphism at apoB locus and the serum lipids profile in children].

The relations of gene polymorphism at the apolipoprotein B locus and serum lipid profile in children was studied in 308 normal 7-11 year-old children, including 151 boys and 157 girls. Blood samples were collected for all subjects, and then the serum and blood clot were separated. Serum lipids, including TC, TG, LDL-C, HDL-C, apoB, apoA I and Lp(a) were detected. Genome DNA was extracted from blood clot, then apoB-Xba I gene polymorphism were tested by PCR-RFLP method. The results showed that the distribution of apoB-Xba I genotype in 308 children accorded with Hardy-Weiberg inheritance equilibrium law. The frequency of heterozygote(+/-) was 13.3%, allele(+) was 0.067. The frequency of allele(+) was closed to the internal and Japanese reports (0.033 and 0.04), but much less than the Caucasians (0.50). This showed a ethnic and population difference in the inheritance variation. The average LDL-C levels of the heterozygotes(+/-) were 2.17 mmol/L, no difference compared with homozygotes(-/-) (2.21 mmol/L, P > 0.05). There was also no difference for the genotype distribution between the hyperlipidemia group and control group, which may be the results of no enough sample size and the sample selection, and so on. On the other hand, in normal children, serum lipids controlled by many genes, the effect of a single gene might be small. More studies and analysis on the relationship between serum lipids and multiple genes in multisites should be the next step.

Apolipoproteins B↗
PubMed1998

Vitamin D receptor gene polymorphism: correlation with bone mineral density in a Brazilian population with insulin-dependent diabetes mellitus.

Patients with insulin-dependent diabetes mellitus (IDDM) are at higher risk of developing osteoporosis. Among the genetic factors related to the development of osteoporosis, a possible association between vitamin D receptor (VDR) gene polymorphism and bone mineral density (BMD) has been described in some populations. We characterized the VDR gene polymorphism in a healthy adult Brazilian population and in a group of patients with IDDM and correlated these findings with densitometric values in both groups. The Brazilian population is characterized by an important racial heterogeneity and therefore is considered an ethnically heterogeneous population. We recruited 94 healthy adult Brazilian volunteers (63 women and 31 men), mean (+/- SD) age 32.4 +/- 6.5 years (range 18-49 years), and 78 patients with IDDM (33 women and 45 men) diagnosed before 18 years of age, mean (+/- SD) age 23.3 +/- 5.5 years (range 18-39 years). VDR genotype was assessed by polymerase chain reaction amplification followed by BsmI digestion on DNA isolated from peripheral blood leukocytes. Statistical analysis included Bonferroni t-test to compare densitometric values within different genotypes in both groups and multiple regression analysis of bone density adjusted for potential confounding factors. The IDDM group had a lower BMD compared with the control group. The VDR genotype distribution in the control group was 43 Bb (45.7%), 39 bb (41.5%) and 12 BB (12.8%). This distribution did not differ from that observed in the IDDM group: 39 Bb (50%), 26 bb (33.3%) and 13 BB (16.7%). In the IDDM group, patients with the Bb genotype had a higher body weight when compared with the BB genotype (p = 0.02). However, when diabetic patients were controlled for age, sex and body mass index, BB genotype was associated with a lower mean BMD at lumbar spine and femoral neck than in Bb and bb patients. BB patients had a shorter duration of IDDM than bb and Bb patients. These findings suggest a small influence of VDR gene polymorphism on BMD of a racially heterogeneous population with IDDM.

Adolescent↗
PubMed2003

Impact of interferon-gamma and interleukin-4 gene polymorphisms on development and progression of IgA nephropathy in Japanese patients.

BACKGROUND: Cytokines have an important role in the pathogenesis and disease progression of immunoglobulin A (IgA) nephropathy. The aim of this study is to investigate the impact of gene polymorphisms of T helper cell subtype 1 (T(H)1)/T(H)2 cytokines, interferon-gamma (IFN-gamma), and interleukin-4 (IL-4) on IgA nephropathy in Japanese patients. METHODS: We investigated IFN-gamma gene (IFNG) and IL-4 gene (IL4) polymorphisms in 96 patients with biopsy-confirmed IgA nephropathy who were followed-up for more than 3 years in our outpatient clinic and 61 healthy controls by polymerase chain reaction and direct sequencing methods. IFNG polymorphism was characterized as a microsatellite of intron 1. Four alleles were identified and designated IFNG 112, 114, 116, and 118, corresponding to 12, 13, 14, and 15 repeats, respectively. A variable number of tandem repeat (VNTR) polymorphisms of IL4 also were studied, and alleles were designated IL4 B1 and B2, corresponding to 2 and 3 repeats, respectively. RESULTS: In patients with IgA nephropathy, IFNG 114 allele and IFNG 114(+/+) genotype frequencies were significantly greater than in the healthy control group (60% versus 45%; P < 0.01 and 43% versus 23%; P < 0.05, respectively), but there was no difference between the IgA nephropathy and healthy control groups in frequencies of both IL4 VNTR allele and genotype. However, frequencies of IL4 B1 allele and B1/B1 genotype in patients with progressive IgA nephropathy (end-stage renal disease or doubling of serum creatinine level; n = 34) were significantly greater than corresponding values in the nonprogression group (n = 62; 79% versus 61%; P < 0.01 and 59% versus 34%; P < 0.05, respectively). We could not confirm an association between IgA nephropathy and polymorphisms of genes involved in the renin-angiotensin system. CONCLUSION: Our results suggest that IFN-gamma and IL-4 gene polymorphisms could influence disease susceptibility and disease progression in IgA nephropathy in Japanese patients. Am J Kidney Dis 41:371-379.

Adolescent↗
PubMed2000

Vitamin D receptor gene polymorphisms and osteoarthritis of the hand, hip, and knee: acase-control study in Japan.

OBJECTIVE: To investigate the association between vitamin D receptor (VDR) gene polymorphisms andJapanese female patients with osteoarthritis (OA) of the hand, hip, and knee. METHODS: BsmI,ApaI, andTaqI restriction fragment length polymorphisms (RFLPs) of the VDR gene were analysed in 270Japanese female patients with radiographic OA of the hand, hip, tibiofemoral (TF) joint, andpatellofemoral (PF) joint, as well as in female controls. RESULTS: There was no significant association between the VDR gene RFLPs and OA of the hand, hip, TFjoint, PF joint, or polyarticular involvement. The previously detected preventive genotype of the VDRgene was uncommon in our test population. CONCLUSION: The relative importance of VDR gene polymorphism in the development of OA may vary betweenethnic groups.

Adult↗
PubMed1997

Vitamin D receptor gene polymorphism in men and its effect on bone density and calcium absorption.

OBJECTIVE: Previous studies have suggested that polymorphism of the alleles of the vitamin D receptor (VDR) gene may account for the major part of the heritable component of bone density in women, possibly mediated in part by impaired calcium absorption from the bowel. In view of the increasing importance of osteoporosis in men, we have now investigated the association between common allelic variations in the vitamin D receptor gene, calcium absorption and bone density in men. SUBJECTS: Forty-eight men (median age 64, range 27-77) with a wide range of bone density measurements, comprising 20 men with vertebral crush fractures and 28 male control subjects. MEASUREMENTS: Analysis of the VDR gene polymorphism and measurement of fractional radiocalcium absorption and bone mineral density was performed in all subjects. RESULTS: The distribution of the three genotypes (TT, tt, Tt) was comparable to that reported previously. There was no significant difference in femoral neck bone density Z-scores between the three genotypes (mean +/- SD TT -0.31 +/- 1.19, tt -0.08 +/- 1.28 and Tt -0.37 +/- 1.17). There were also no significant differences in mean femoral neck bone density T-scores or lumbar spine bone density Z or T-scores between the three genotypes. Fractional radiocalcium absorption was 0.59 +/- 0.27 for TT, 0.69 +/- 0.30 for tt and 0.60 +/- 0.30 for Tt, showing no significant difference between the genotypes. CONCLUSIONS: This study shows no association between vitamin D receptor gene polymorphism and bone density or fractional calcium absorption in a group of men with a range of bone density values. We conclude that the vitamin D receptor gene alleles probably account at most for only a small part of the genetic component of bone density in men.

Adult↗
PubMed2004

The Medi-RIVAGE study (Mediterranean Diet, Cardiovascular Risks and Gene Polymorphisms): rationale, recruitment, design, dietary intervention and baseline characteristics of participants.

OBJECTIVE: To report the rationale, recruitment, design, dietary intervention and baseline characteristics of participants in the Medi-RIVAGE study (Mediterranean Diet, Cardiovascular Risks and Gene Polymorphisms). DESIGN: A randomised, parallel trial comparing a new nutritional programme with a conventional programme. SETTING: Centre for Detection and Prevention of Arteriosclerosis, Timone University Hospital, Marseille, France, and collaborating teams. SUBJECTS: Two hundred and twelve male and female volunteers with at least one cardiovascular risk factor. INTERVENTION: A Mediterranean-type diet characterised mainly by the quality of fatty acids, amount of fish, vegetable foodstuffs and fibre was proposed and compared with a usually prescribed, low-fat/cholesterol diet. Body mass index, fasting lipids and lipoproteins, apolipoproteins, glucose, insulin and homocysteine were the main outcome measures. Gene polymorphisms of interest were determined. RESULTS: Characteristics of men in the two arms were comparable with regard to sociodemographic variables, and clinical and biological cardiovascular risk factors. There were few differences between the groups of women (cholesterol-related parameters, P<0.05). There was no difference between arms in allelic distribution of the gene polymorphisms studied. Saturated fat and protein intakes were high while carbohydrate and fibre intakes were low, but with no difference between arms. Overall, the nutritional markers were comparable in both arms with few exceptions. Correlations between nutritional intakes and plasma nutrient levels ranged from 0.19 (beta-carotene) to 0.47 (folate). CONCLUSIONS: The comparability of the two arms is notable and warrants a low risk of biases. Current diet departs from the traditional Mediterranean one. The assessment of nutritional intake is validated by correlations obtained between dietary intake and relevant biomarkers. This will be important to estimate participant compliance and to analyse intervention data.

Adult↗
PubMed2005

Pooled analysis on metabolic gene polymorphisms and lung cancer.

This article reports an update of pooled analysis on metabolic gene polymorphisms and cancer (the Genetic Susceptibility to Environmental Carcinogens [GSEC] study). The study started in 1997, and has collected data from over 52,000 subjects (half cases, half controls). The distribution of cases shows that the most represented cancer is lung cancer (6465 cases), followed by bladder cancer (3289 cases). The analyses conducted on lung cancer and metabolic gene polymorphisms are summarized and discussed. Pooled analysis allows one to study rare subgroups of subjects, such as lung cancer at young ages, or in nonsmokers, and is a useful approach for generating new working hypothesis and for fostering collaboration.

Carcinogens, Environmental↗
PubMed2001

The relation between plasma homocysteine concentration and methylenetetrahydrofolate reductase gene polymorphism in pregnant women.

OBJECTIVE: Our purpose was to clarify the influence of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism on plasma homocysteine (Hcy) concentrations during early pregnancy. METHODS: Between 1996 and 1998, Hcy concentration and MTHFR gene polymorphism were studied in 840 pregnant women between 6 to 12 weeks' gestation. Hcy concentration was measured by amino acid autoanalyzer (DLC-300, Nihon Denshi), and MTHFR genotypes were determined by the PCR/RFLP methods. Pregnancy outcomes were compared in association with Hcy concentration and MTHFR genotypes. RESULTS: A total of 816 of the 840 women were enrolled into the study because MTHFR genotypes were not available in 24 women. Genotypes of C677T in the MTHFR gene were CC: CT: TT (%) = 280 (34.3): 400 (49.0): 136 (16.7). Plasma Hcy concentration was significantly (p < 0.0001) higher in women with TT genotype than other genotypes [CC: CT: TT = 5.67 (2.8-10.6): 5.80 (2.5-20.1): 6.91 (3.5-20.9) nmol/ml, median (range)]. Women with hyperhomocysteinemia had severe preeclampsia (2 of 35 vs 5 of 714, p < 0.01) and stillbirth (2 of 35 vs 10 of 714, p < 0.05) more frequently than normohomocysteinemia. CONCLUSIONS: Plasma Hcy concentration during early pregnancy was higher in women with homozygote for the T677 allele in the MTHFR gene than other genotypes.

Adult↗
PubMed2000

Proteinuria and angiotensin converting enzyme (ACE) gene polymorphism.

INTRODUCTION: Although proteinuria is traditionally regarded as the result of glomerular damage, recent evidence suggests that proteinuria can directly cause renal damage through lysosomal injury, growth factor induced tubular fibrosis and transcriptase genes which trigger vasoactive and inflammatory renal damage. The renin angiotensin system which releases angiotensin, a most powerful vasoconstrictor and mediator of mesangial cell proliferation and matrix expansion, has been associated with progressive renal injury. This paper reviews the role of angiotensin converting enzyme (ACE) gene polymorphisms in the genesis of progressive renal failure, as well as their role in the response of proteinuria to ACE inhibitor (ACEI) or angiotensin receptor antagonist (ATRA) therapy. METHODOLOGY: The deletion/insertion polymorphism of the ACE gene has 3 genotypes DD, ID and II. Reported studies on the association of ACE gene polymorphisms with patients with IgA nephritis and progressive renal failure, including their response to ACEI or ATRA therapy, were reviewed. RESULTS: Individuals with the DD genotypes have a higher risk of declining renal function with progressive IgA nephritis and more rapid deterioration to renal failure. Therapy with ACEI and or ATRA may be beneficial in patients with IgA nephritis with renal impairment and non-selective proteinuria as such patients may respond to therapy with improvement in protein selectivity, decrease in proteinuria and improvement in renal function. CONCLUSION: ACE genotypes appear to predict antiproteinuric response to ACEI therapy. ACEI/ATRA therapy probably modifies pore size distribution by reducing the radius of large non-selective pores, causing the shunt pathway to become less pronounced resulting in less leakage of protein into the urine.

Angiotensin-Converting Enzyme Inhibitors↗
PubMed2006

Distribution of 22 cytokine gene polymorphisms in the healthy Czech population.

Cytokine gene polymorphisms (CGP) have been implicated in the pathogenesis of immune-mediated diseases including transplant complications via their effect on cytokine production and regulation. This study aimed to determine population frequencies of selected cytokine single nucleotide polymorphisms in the healthy Czech population and compare them with the data from other selected European populations. CGP were genotyped by polymerase chain reaction with sequence-specific primers (PCR-SSP) using the Heidelberg kit in 120 unrelated Czech healthy individuals. Chi-squared analysis was used to test for a deviation from Hardy-Weinberg equilibrium. Allelic and genotype frequencies and carriage rates were determined for 22 CGP located within 13 cytokine genes in total. The frequencies observed in this study were similar to those available from the other two geographically close Central European centres, but they differed for several CGP from the data reported in south European populations. The data on the distribution of 22 CGP in the healthy Czech population reported here may be utilized to investigate possible associations of CGP with diseases or transplantation outcome.

Adult↗
PubMed2003

Interleukin-1beta and interleukin-1 receptor antagonist gene polymorphism in postmenopausal women: correlation to bone mineral density and susceptibility to osteoporosis.

OBJECTIVE: Osteoporosis is a common disorder with a strong genetic component. Our aim was to investigate the correlations of the interleukin-1beta (IL-1beta) and interleukin-1 receptor antagonist (IL-1Ra) gene polymorphisms with bone mineral density (BMD) and their relationship to osteoporosis. METHODS: The IL-1beta (promoter and exon 5) and IL-1Ra (intron 2) gene polymorphisms were determined using polymerase chain reaction. BMD of the lumbar spine and proximal femur were measured using dual-energy X-ray absorptiometry. RESULTS: The prevalence of each genotype of the interleukin-1 related genes in the study population was: (1) 14% C/C, 71.5% C/T, and 14.5% T/T in IL-1beta promoter; (2) 95.3% E1/E1 and 4.7% E1/E2 in IL-1beta exon 5; (3) 92.4% I/I, 6.4% I/II, and 1.2% II/II in IL-1Ra intron 2. After adjustment for potential confounding factors such as age, height, weight, years since menopause, and daily calcium intake, subjects with genotype E1/E2 (n=8) in IL-1beta exon 5 had lower BMD values and a significantly greater risk for osteoporosis (OR 10.6, 95% CI 1.3-83.8) at the lumbar spine when compared with subjects with genotype E1/E1 (n=164) in IL-1beta exon 5. CONCLUSION: The Taq I IL-1beta exon 5 gene polymorphism is associated with reduced BMD and predisposes women to osteoporosis at the lumbar spine, but our results should be interpreted with caution because of the small number of subjects with the unfavorable E1/E2 genotype.

Bone Density↗
PubMed2006

Association study of the endothelial nitric oxide synthase gene polymorphisms with essential hypertension in northern Han Chinese.

BACKGROUND: Nitric oxide (NO) synthesized by endothelial nitric oxide synthase (eNOS) plays an important role in both the regulation of endothelial function and the control of blood pressure. Up to now, there has been conflicting data regarding the association between three clinically relevant polymorphisms (T-786C, intron4b/a and G894T) of the eNOS gene and essential hypertension. METHODS: To examine the contribution of the three eNOS gene polymorphisms to the development of hypertension in the northern Han Chinese, a case-control study including 503 hypertensive cases and 490 age-, gender-, and area-matched controls recruited from the International Collaborative Study of Cardiovascular Disease in Asia (InterASIA) was conducted. Genotyping was performed by polymerase chain reaction (PCR) or PCR-restriction fragment length polymorphism (RFLP). RESULTS: The T-786C and intron4b/a polymorphisms were observed in significant linkage disequilibrium (D' = 0.87, P < 0.001). The minor allele frequencies of these three polymorphisms in healthy controls were much lower than those of Caucasians (9.3% vs 39.6% - 42.0%, 8.9% vs 15.0% - 16.0% and 10.9% vs 34.5% - 34.9% for -786C, intron4a and 894T, respectively). Genotype distributions and allele frequencies of the three polymorphisms did not differ between cases and controls (all P > 0.05). In addition, none of the eight estimated haplotypes significantly increased or decreased the risk of hypertension before or after adjustment for several known risk factors. CONCLUSION: The study results suggest that the three eNOS gene polymorphisms are unlikely to be major genetic susceptibility factors for essential hypertension in the northern Han Chinese population.

Adult↗
PubMed1998

Relation between severity of coronary artery disease, left ventricular function and myocardial infarction, and influence of the ACE I/D gene polymorphism.

Left ventricular (LV) systolic function is partly determined by severity of coronary artery disease and is improved by angiotensin-converting enzyme (ACE) inhibition, at least in post-infarct patients. Because the ACE insertion/deletion (I/D) gene polymorphism is associated with circulating and tissue ACE activity, we sought to evaluate the role of this genetic variant on LV function in patients studied with coronary angiography, taking into account coronary vessel anatomy and history of infarction. Coronary artery disease extent scores, coronary artery patency, and LV ejection fraction were assessed in 400 consecutive Caucasian patients referred for established or suspected ischemic heart disease. A previous infarction had occurred in 141 patients an average of 3.7 years before the study. The ACE DD genotype, compared with the ACE ID/II genotype, was associated with a 2.7% higher ejection fraction in noninfarct patients (p = 0.047) but a 5.0% lower ejection fraction in post-infarct patients (p = 0.047). An interaction effect between the ACE I/D gene polymorphism, the infarction status, and LV ejection fraction was observed in the whole population (p = 0.003), in patients with no disease and 1-, 2-, and 3-vessel diseases (p = 0.03 and p = 0.06, respectively), and in those with chronically occluded coronary vessels (p = 0.02). The influence of the ACE I/D gene polymorphism on LV function is modulated by infarction status and coronary anatomy.

Aged↗
PubMed2000

Association of vitamin D receptor gene polymorphism with prostate cancer and benign prostatic hyperplasia in a Japanese population.

Recent studies have suggested that vitamin D is an important determinant of prostate cancer risk and inherited polymorphisms in the 3'-untranslated region (3'UTR) of the vitamin D receptor (VDR) gene are associated with the risk and progression of prostate cancer. This study was conducted to explore the association of VDR gene polymorphisms with prostate cancer risk in Japanese men who are considered to be much less influenced by environmental risk factors for prostate cancer. We studied 222 prostate cancer patients, 209 benign prostatic hyperplasia (BPH) patients, 128 male controls who were over 60 years old and without any evidence of prostate cancer or BPH, and 198 female controls. A PCR-RFLP method was used to determine three VDR gene polymorphisms in the 3'UTR characterized by restriction enzymes BsmI, ApaI and TaqI. In the BsmI polymorphism, heterozygosity or homozygosity for the absence of the BsmI restriction site was associated with one-third the risk of prostate cancer (P < 0.0001; odds ratio, 3.31; 95% confidence interval, 2.05-5.32) and with one-half the risk of BPH (P < 0.005; odds ratio, 2.07; 95% confidence interval, 1.33-3.22) compared with the male controls. The TaqI and ApaI polymorphisms did not show any significant association with either prostate cancer or BPH. The results indicate that the BsmI polymorphism in the VDR gene plays a significant role in protection against prostate cancer and BPH. Because of the racial difference in the strength of the linkage disequilibrium between the three polymorphisms, additional studies are required to apply the present results to other racial-ethnic groups.

3' Untranslated Regions↗
PubMed2002

Interleukin 8 gene polymorphism is associated with increased risk of nephritis in cutaneous vasculitis.

OBJECTIVE: To assess the influence of interleukin-8 (IL-8), epithelial cell-derived neutrophil-activating peptide (ENA-78), and regulated upon activation normal T cell expressed and secreted (RANTES) gene polymorphisms in the susceptibility and clinical expression of patients fulfilling classification criteria for Henoch-Schönlein purpura (HSP). METHODS: Fifty patients (25 men) from Northwest Spain with primary cutaneous vasculitis classified as HSP according to proposed criteria were studied. All patients were required to have had at least 2 years' followup. Patients and ethnically matched controls were genotyped for IL-8, ENA-78, and RANTES gene polymorphisms. RESULTS: No allele or genotype differences between patients fulfilling HSP classification criteria and controls were observed for any of the chemokines. However, a significantly increased frequency of allele A of the IL-8 gene polymorphism was found in patients with HSP who developed renal manifestations compared with patients without renal involvement (p = 0.02; pcorr = 0.036). Moreover, the genotype distribution in HSP patients with and without renal involvement showed statistically significant differences (p = 0.02). CONCLUSION: In unselected patients with cutaneous vasculitis, carriage of IL-8 allele A influences the susceptibility to renal involvement.

Adolescent↗