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PubMed2002

Association of vitamin D receptor gene polymorphism with urolithiasis.

PURPOSE: Recent studies suggest that allelic variations of the vitamin D receptor (VDR) gene can influence calcium absorption and excretion. Therefore, we studied the association of VDR gene polymorphism with urolithiasis. SUBJECTS AND METHODS: We studied 83 patients with urinary stones and 83 controls. Patients were scored for certain clinical characteristics, including long axis diameter of the largest stone (1 point-less than 10 mm. and 2-10 mm. or greater), number of stones (1 point-1 and 2-multiple) and history of calcium stone disease (1 point-absent and 2-present). They were classified into 3 groups according to the total score, including low-3, intermediate-4 or 5 and high-6 points. The 2 VDR gene polymorphisms TaqI and ApaI were detected by polymerase chain reaction-restriction fragment length polymorphism and their relationships with the urinary calcium level were examined. RESULTS: The incidence of TaqI Tt and tt genotypes was significantly higher in the high score group than in controls. The TaqI t allele was associated with a 5.2-fold increase in the risk of severe stone disease. The urinary calcium level in patients with the Tt and tt genotypes was also higher than in those with the TT genotype. The rate of the ApaI genotype was not different in the high score group and controls. CONCLUSIONS: The TaqI t allele of the VDR gene may be a risk factor for severe stone disease and recurrent stones.

Adult↗
PubMed2004

[The distribution of gene polymorphisms in the intron 2 and exon 2 of interleukin-1 receptor antagonist and their correlation with the serum lipoprotein level].

OBJECTIVE: To study the distribution of variable numbers of tandem repeat (VNTR) polymorphism in the intron 2 and the single nucleotide polymorphism (SNP) at position +8006 in the exon 2 of IL-1RN in healthy Chinese Han Population of Wuhan province and to analyze their correlation with the serum lipoprotein level. METHODS: IL-1RN (VNTR) and IL-1RN (+8006) polymorphisms were detected by PCR and PCR-RFLP methods in 251 healthy Chinese Han Population of Wuhan, and the levels of serum lipoprotein, IL-1 and IL-1Ra were inspected simultaneously. RESULTS: In IL-1RN (VNTR), allele I appeared most common, then allele II, and allele IV was rare. At the position of IL-1RN (+8006), allele T was most commonly seen followed by allele C. Allele II of IL-1RN (VNTR) always existed with allele C of IL-1RN (+8006). The levels of serum lipoprotein, IL-1 and IL-1Ra were not different among the different genotypes of the two polymorphisms. CONCLUSION: There were two gene polymorphisms in the intron 2 and exon 2 of IL-1RN, which were not correlated with the levels of serum lipoprotein, IL-1 and IL-1Ra. However, there seemed to be a linkage disequilibrium between IL-1RN (VNTR) and IL-1RN (+8006).

Adolescent↗
PubMed2006

Cytotoxic T-lymphocyte antigen 4 gene polymorphisms and susceptibility to chronic hepatitis B.

AIM: To assess the three polymorphism regions within cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene, a C/T base exchange in the promoter region -318 (CTLA-4 -318C/T), an A/G substitution in the exon 1 position 49 (CTLA-4 49A/G), a T/C substitution in 1172 (CTLA-4 -1172T/C) in patients with chronic hepatitis B. METHODS: Fifty-one patients with chronic hepatitis B virus infection and 150 healthy subjects were recruited sequentially as they presented to the hepatic clinic. Classification of chronic hepatitis B virus (HBV)-infected patients was as asymptomatic carrier state (26 patients) and chronic hepatitis B (25 patients). Genomic DNA was isolated from anti-coagulated peripheral blood Buffy coat using Milleros salting-out method. The presence of the CTLA-4 gene polymorphisms was determined using polymerase chain reaction amplification refractory mutation system (ARMS). RESULTS: We observed a significant association between -318 genotypes frequency (T+C-, T+C+, T-C+) and susceptibility to chronic hepatitis B (P=0.012, OR=0.49, 95%CI: 0.206-1.162). However, we did not observe a significant association for +49 genotype frequency (T+C+, T+C- T-C+) and -1172 genotype frequency (C+T+, T+C- C+T-) and state of disease. CONCLUSION: Our results suggest that CTLA-4 gene polymorphisms may partially be involved in the susceptibility to chronic hepatitis B.

Adult↗
PubMed2006

No association between selected candidate gene polymorphisms and severe chronic periodontitis.

BACKGROUND: Chronic periodontitis (CP) risk is influenced by environmental and genetic factors. Using a case-control design, we tested for associations between CP and selected DNA sequence variations (single nucleotide polymorphisms [SNPs]) in or near genes coding for proteins that play a role in the pathogenesis of this disease. METHODS: DNA was analyzed from 219 whites who were examined clinically. Cases (N=137) were >or=35 years of age with eight or more teeth having >or=5 mm of proximal clinical attachment loss. Controls (N=82) were >or=45 years of age with minimal or no proximal attachment loss or pocketing. Nine diallelic polymorphisms (gene and SNP descriptor) were studied in subjects: cytotoxic T-lymphocyte antigen-4 (CTLA-4, 49 A>G), human beta-defensin-1 (DEFB1, 692 G>A), intercellular adhesion molecule-1 (ICAM-1, 1548 A>G), Fas ligand (fasL, -844 C>T), inducible costimulator (ICOS, 3990 G>T), interleukin-6 (IL-6, -174 G>C), cysteine-cysteine chemokine receptor-5 (CCR5, 59653 C>T), osteoprotegerin (OPG, 245 T>G), and osteopontin (OPN, 707 C>T). Genotypes were determined using an automated fluorogenic 5'-nuclease, polymerase chain reaction-based assay. Gender and smoking history (pack-years) were included as covariates in logistic regression analyses. RESULTS: Heavy smoking (>10 pack-years) and male gender were significantly associated with disease (P<0.001). For all SNPs tested, the allele frequencies and distributions of genotypes did not differ between cases and controls (P>0.05). No unadjusted or adjusted odds ratios (comparing genotypes in cases versus controls) were significantly different than 1.0 (P>0.05) under any additive, dominant, or recessive inheritance model. CONCLUSIONS: None of the SNPs tested were strongly associated with generalized severe chronic periodontitis in North American whites. A potentially more fruitful approach in future studies will be to test for associations between periodontitis and haplotype blocks constructed from either multiple SNPs in candidate gene regions or from panels of markers that span the entire genome.

Adult↗
PubMed2004

HLA and cytokine gene polymorphisms are independently associated with responses to hepatitis B vaccination.

Variable immune responses to hepatitis B virus (HBV) infection and recombinant HBV vaccines have been associated with polymorphisms in several genes within the human leukocyte antigen (HLA) complex. Analyses of polymerase chain reaction (PCR)-based genotyping data from 164 North American adolescents vaccinated with recombinant HBV products confirmed that HLA-DRB1*07 (relative odds [RO] = 5.18, P <.0001) and human immunodeficiency virus type 1 (HIV-1) infection (RO = 3.91, P <.001) were both associated with nonresponse to full-dose vaccination. Further associations were observed with single nucleotide polymorphisms (SNPs) at the IL2 and IL4 loci along with insertion/deletion variants at the IL12B locus (P =.003-.01). Host genetic associations were independent of one another as well as other HLA (A, B, C, and DQB1) and cytokine gene (IL4R, IL6, IL10, and TNF) variants. Statistical adjustments for nongenetic factors (gender, ethnicity, age, HIV-1 infection, and vaccination protocols) did not substantially alter the strengths of the genetic relationships. The overall distribution pattern of genetic variations was similar between the analyzed vaccinees and additional adolescents (n = 292) from the same cohort. In conclusion, DRB1*07 (or a closely linked allele) and immunoregulatory cytokine gene polymorphisms correlate with variable immune response to recombinant HBV vaccines.

Cohort Studies↗
PubMed1999

A study of cytokine protein secretion, frequencies of cytokine expressing cells and IFN-G gene polymorphisms in normal individuals.

BACKGROUND: Cytokines are major regulators of immune responses, and there is evidence that they play a role in allograft rejection. Before embarking on a detailed study of pretransplant cytokine profiles in renal allograft recipients, we wished to investigate variations in cytokine protein secretion, numbers of cytokine expressing T cells, and cytokine gene polymorphisms in normal volunteers. METHODS: Twenty normal healthy volunteers were studied. Cytokine protein secretion [interleukin- (IL) 2, IL-4, IL-10, and interferon- (IFN) y] and numbers of cytokine expressing CD3+ T cells (IL-2, IL-4, IL-10, and IFN-gamma) were quantified by means of enzyme-linked immunosorbent assay and two-color flow cytometry respectively. IFN-gamma gene polymorphisms were determined by polymerase chain reaction and autoradio graphy. RESULTS: Large interindividual variations in both the quantity of IL-2, IL-4, IL-10, and IFN-gamma cytokine protein secreted and numbers of IL-2 and IFN-gamma expressing T cells were demonstrated. However, numbers of IL-4 and IL-10 expressing cells were found to be below detectable limits by flow cytometry. In the case of IFN-gamma, a bi-modal distribution was seen for the quantity of protein secreted. In addition, correlations were observed between IL-2 protein and frequency of IL-2 expressing T cells. However, no relationship was found between IFN-gamma protein levels, numbers of IFN-gamma expressing cells and IFN-gamma gene polymorphisms. CONCLUSIONS: We have demonstrated large differences in both numbers of T helper 1 cytokine expressing cells and the quantity of T helper 1 and T helper 2 cytokine protein secreted between normal individuals. Although the amount of IL-2 protein secreted appeared to be determined by the frequency of IL-2 expressing cells, this was not the case for IFN-gamma.

Adult↗
PubMed2002

The effects of beta2 adrenoceptor gene polymorphisms on pressor response during laryngoscopy and tracheal intubation.

We investigated whether human beta2 adrenoceptor (beta2AR) gene polymorphisms are associated with the pressor response to laryngoscopy and tracheal intubation. Ninety-two patients undergoing elective surgery under general anaesthesia were enrolled into this study. Arterial systolic pressure, heart rate and rate pressure product were measured before induction of anaesthesia and 1 min following laryngoscopy and tracheal intubation. Genomic DNA was then used to identify the beta2AR-16 and beta2AR-27 genes using an allele-specific polymerase chain reaction method. Using multiple linear regression models, controlling for age, sex, weight, baseline blood pressure, heart rate and rate pressure product, we found that patients who possessed the glutamic acid homozygote of beta2AR-27 produced significantly greater changes in mean arterial pressure and rate pressure products than patients with the glutamine homozygote of beta2AR-27 (beta coefficient for mean blood pressure = 11.81, beta coefficient for pulse-pressure product = 8.76, both p-values = 0.023). These findings suggest that genetic variability in the human beta2AR gene polymorphisms may be associated with the pressor response to laryngoscopy and tracheal intubation.

Adult↗
PubMedDate not supplied

Serotonin gene polymorphisms in patients with panic disorder.

INTRODUCTION: The objective is to investigate the possible association between four serotonin gene polymorphisms (T102C, A-1438G, 5-HTTLPR and VNTR-5HTT) and panic disorder (PD). PATIENTS AND METHOD: 92 PD outpatients (DSM-IV criteria) and 174 healthy volunteers from Asturias (control group) were included. Polymorphisms were determined after polymerase chain reaction amplification followed by digestion with restriction enzymes and electrophoresis on an agarose gel. RESULTS: Both 5-HT2A polymorphisms are in complete linkage disequilibrium in our population. No statistically significant differences in genotype frequencies of serotonin gene polymorphisms (T102C, A-1438G, 5HTTLPR and VNTR-5HTT) were found between patients and control subjects. Allele frequencies did not differ between both groups. No differences were found according to gender. CONCLUSIONS: The polymorphisms studied were not associated with PD in our population. However, larger patient samples are necessary to confirm or reject these findings.

Adult↗
PubMed2005

Transforming growth factor-beta1 gene polymorphisms are associated with progression of liver fibrosis in Caucasians with chronic hepatitis C infection.

AIM: Considerable attention is focused on polymorphisms in the gene encoding transforming growth factor-beta1 (TGF-beta1), a multifunctional cytokine that is in turn a potent growth inhibitor involved in wound healing and differentiation. In humans, it promotes the pathogenesis of organ fibrosis, atherosclerosis, cancer, autoimmune and inflammatory diseases, keloid disease, and hypertrophic scarring. For this reason, much emphasis has been placed on studies elucidating the impact of TGF-beta1 and its gene variations for the susceptibility and pathogenesis of these diseases. Unfortunately, some studies have serious limitations. METHODS: We have recently described a high-throughput method for investigation the Arg25Pro polymorphism of human TGF-beta1 gene and showed that the frequency of the Pro25 allele is significantly associated with hepatic fibrogenesis. In this report, we describe two novel LightCycler (LC) techniques that facilitate the examination of the two other known alterations in the coding region of TGF-beta1. We investigated whether these polymorphisms contribute to hepatitis-induced progression of fibrogenesis in Chinese and Caucasians. RESULTS: In the Chinese ancestry, the gene polymorphisms at codons 25 and 263 were not found and the genetic variant at codon 10 is unlikely to confer susceptibility to hepatic fibrosis. Contrarily, in Caucasians TGF-beta1 allelic variations are more frequent and the presence of prolines either in codon 25 or 10 is associated with the interindividual variability in developing more severe fibrosis during chronic hepatitis C infection. CONCLUSION: In summary, these results confirm the hypothesis that TGF-beta1 polymorphisms are associated with fibrosis progression in Caucasians chronically infected with hepatitis C.

Asian People↗
PubMed1999

Genetic heterogeneity within ulcerative colitis determined by an interleukin-1 receptor antagonist gene polymorphism and antineutrophil cytoplasmic antibodies.

BACKGROUND: Although there is strong evidence implicating genetic predisposition in the pathogenesis of the chronic inflammatory bowel diseases, the number and identity of susceptibility genes remain uncertain. Cytokine genes are tentative candidate loci, but data regarding association studies in different populations are conflicting. AIMS: To determine potential associations of interleukin-1 receptor antagonist (IL-1ra), tumour necrosis factor alpha (TNF alpha), and tumour necrosis factor beta (TNF beta) gene polymorphisms with ulcerative colitis or subsets of ulcerative colitis in a Spanish population. METHODS: Genotyping for IL-1ra, TNF alpha and TNF beta gene polymorphisms was performed by the polymerase chain reaction in 95 patients with ulcerative colitis and 74 healthy controls. A variable number of tandem repeats (VNTR) in the IL-1ra gene, and a single base pair polymorphism in the TNF alpha gene promoter region (-308) and in the first intron of the TNF beta gene were analysed. Anti-neutrophil cytoplasmic antibodies (ANCA) were detected using an indirect immunofluorescence assay. RESULTS: There were no significant differences between ulcerative colitis patients and controls in either polymorphism analysed, nor between ulcerative colitis subgroups as a function of the clinical disease pattern. However, when stratified by their ANCA status, perinuclear ANCA (p-ANCA) ulcerative colitis showed an increased frequency of the genotype 1,2 of the IL-1ra gene compared with ANCA-negative ulcerative colitis (52% versus 28%; P = 0.02, Pcorr = 0.1). Furthermore, p-ANCA ulcerative colitis had a statistically significant increase of this genotype compared with cytoplasmic ANCA (c-ANCA)/ANCA-negative ulcerative colitis (52% versus 26.5%; P = 0.01, Pcorr = 0.05). CONCLUSIONS: In the Spanish population studied, the polymorphisms analysed in the IL-1ra, TNF alpha and TNF beta genes are unlikely to be important in the overall susceptibility to ulcerative colitis. However, the combination of a subclinical (p-ANCA) and a genetic (IL-1ra gene) marker identified a distinct ulcerative colitis subgroup (p-ANCA; IL-1ra genotype 1,2). These findings provide further evidence of genetic heterogeneity within ulcerative colitis, and support the concept that ANCA may represent a subclinical marker of genetic heterogeneity.

Adolescent↗
PubMed2006

[Study on the association between estrogen receptor alpha gene polymorphism and intrahepatic cholestasis of pregnancy].

OBJECTIVE: To investigate the relationship between estrogen receptor alpha (ERalpha) gene polymorphism and intrahepatic cholestasis of pregnancy (ICP). METHODS: The Xba I and Pvu II polymorphisms in intron 1 of ER alpha gene were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 100 pregnant women with ICP (ICP group) and 100 normal pregnant women (control group). RESULTS: (1) The frequencies of XX, Xx and xx genotypes of Xba I polymorphism were 6%, 33% and 61% respectively in control group, and were 2%, 33% and 65% respectively in ICP group. There was no significant difference in the distribution of Xba I genotypes between the two groups (P > 0.05). The frequencies of the two alleles X and x were 23% and 78% in control group, and were 19% and 82% in ICP group, respectively. There was also no significant difference in the frequency of Xba I alleles between the two groups (P > 0.05). (2) The frequencies of PP, Pp and pp genotypes of Pvu II polymorphism were 18%, 42% and 40% respectively in control group, and were 12%, 53% and 35% respectively in ICP group. There was no significant difference in the distribution of Pvu II genotypes between the two groups (P > 0.05). The frequencies of the two alleles P and p were 39% and 61% in control group, and were 39% and 62% in ICP group, respectively. There was also no significant difference in the frequency of Pvu II alleles between the two groups (P > 0.05). (3) There was also no significant difference in the distribution of Xba I and Pvu II combinative genotype between the two groups (P > 0.05). CONCLUSION: The ERalpha gene polymorphism is not associated with the risk of ICP.

Adult↗
PubMed1999

Association between an aggrecan gene polymorphism and lumbar disc degeneration.

STUDY DESIGN: A case-control study using magnetic resonance imaging findings and a polymerase chain reaction assay to investigate the association between aggrecan gene polymorphism and lumbar disc degeneration. OBJECTIVE: To analyze whether the aggrecan gene polymorphism is related to lumbar disc disease in young women. SUMMARY OF BACKGROUND DATA: It has been suggested that a genetic factor or familial predisposition contributes to the development of lumbar disc herniation. However, the precise genetic component related to disc disease remains unclear. Recently, a polymorphism has been identified in the region of the human aggrecan gene. The expressed variable numbers of tandem repeat polymorphism occur in the highly conserved repeat region. METHODS: The participants were 64 young women with or without low back problems. Magnetic resonance imaging was used to evaluate the degeneration and herniation of the intervertebral disc. Genomic deoxyribonucleic acid was extracted from all participants. A polymerase chain reaction assay was carried out to detect the alleles of the aggrecan gene. The association of intervertebral disc degeneration and herniation with the distribution of the aggrecan gene alleles was analyzed. RESULTS: Findings showed an overrepresentation of alleles with small numbers of repeats in subjects with multilevel disc degeneration, thus indicating a significant distribution difference. There also was a significant difference between the distribution of alleles and the severity of disc degeneration. No significant association was found between any of the alleles either in number or type of disc herniation. CONCLUSIONS: The current study showed that multilevel and severe disc degeneration was present in the participants with shorter variable numbers of tandem repeat length of the aggrecan gene. This suggests that subjects with shorter variable numbers of tandem repeat length of the aggrecan gene have a risk of having multilevel disc degeneration develop at an early age.

Adult↗
PubMed2004

Association study of serotonin-2A receptor gene polymorphism and panic disorder in patients from Canada and Germany.

The T102C serotonin-2A (5-HT2A) receptor gene polymorphism has been studied extensively in a number of complex psychiatric conditions with mixed results. Recently a genetic association has been described between this polymorphism and panic disorder in a Japanese sample. To evaluate the impact of the T102C polymorphism in panic disorder we genotyped triad families (panic disorder patient and parents), and cases with controls in Canadian and German samples. No significant transmission disequilibrium was observed between the alleles of the T102C 5-HT2A receptor gene polymorphism and panic disorder, nor was a significant excess of either allele found in the case control analysis. Our data suggest thus that this polymorphism is unlikely to play a major role in the pathogenesis of panic disorder.

Alleles↗
PubMed2004

Non-relation of parathyroid hormone gene polymorphisms to secondary hyperparathyroidism in Chinese hemodialysis patients.

OBJECTIVE: To investigate the relationship between parathyroid hormone (PTH) gene polymorphisms and secondary hyperparathyroidism in Chinese hemodialysis (HD) patients. MATERIALS AND METHODS: 210 patients in one HD unit were enrolled as the study group and 203 age-matched health subjects were enrolled as controls. PTH genotypes were determined by polymerase chain reaction and restricted fragment length polymorphisms (RFLPs) of BstBI and DraII. B and b or D and d were indicated by the presence or absence, respectively, of BstBI and DraII at restriction sites on the PTH gene. Serum iPTH levels and serum total calcium (Sca), phosphate (Sp), bone-specific alkaline phosphatase (bAlk), and aluminum (Al) levels across different genotypes were compared. RESULTS: When polymorphisms at the BstBI the restriction site were investigated, the patients' BB, Bb, and bb genotype frequencies were 62%, 37%, and 1%, respectively. At the DraII restriction site, the patients' DD, Dd, and dd genotype frequencies were 78%, 17%, and 5%, respectively. No significant differences were found across the three genotypes, BB, Bb, and bb, in serum Sca, Sp, bAlk, Al and iPTH levels. DraII cleavage PTH gene polymorphisms displayed a similar pattern. Patients with BBDD haplotype were not found to have significantly higher serum iPTH levels than those with other haplotypes. CONCLUSION: Our study appears to indicate that PTH gene polymorphisms do not influence serum iPTH levels in Chinese HD patients.

Adult↗
PubMed2004

Effect of adiponectin gene polymorphisms on circulating adiponectin and insulin resistance indexes in women with polycystic ovary syndrome.

BACKGROUND: We examined the possible association of adiponectin gene polymorphisms with polycystic ovary syndrome (PCOS) and their influence on serum adiponectin and insulin resistance indexes in Greek women with PCOS. METHODS: We genotyped samples from 100 women with PCOS characterized with respect to body mass index (BMI), glucose and insulin concentrations during an oral glucose tolerance test (OGTT), lipid profile, and serum adiponectin concentrations and from 140 healthy controls for the 45T>G and 276G>T polymorphisms in the adiponectin gene. RESULTS: The distributions of genotypes and alleles of both polymorphisms were no different in women with PCOS and controls, indicating that the individual polymorphisms are not associated with increased risk for PCOS. However, the two polymorphisms were found to be associated with insulin resistance indexes among women with PCOS and to influence adiponectin production. In particular, carriers of the TG genotype at position +45 had greater hyperinsulinemia, as estimated by the area under the curve for insulin (AUC(insulin)) during the OGTT, than those with the TT genotype (P <0.05), and this was independent of age and BMI. In addition, women with PCOS with the GG or GT genotypes at position +276 had a higher BMI (P = 0.01) and greater AUC(insulin) (P = 0.01) than carriers of the TT genotype. The latter genotype was found less frequently among overweight/obese women with PCOS than in normal-weight individuals (P = 0.002). In addition, the presence of the GG or GT genotype was associated with lower serum adiponectin than the TT genotype, independent of age, BMI, and insulin concentrations (P = 0.03). Serum adiponectin was negatively correlated with serum triglycerides and insulin resistance indexes and positively with HDL-cholesterol. CONCLUSIONS: Adiponectin gene polymorphisms at positions +45 and +276 are not associated with PCOS. However, these genomic variants may influence production of adiponectin and the metabolic variables related to insulin resistance/metabolic syndrome in patients with PCOS.

Adiponectin↗
PubMed2004

Androgen receptor gene polymorphisms and increased risk of urologic measures of benign prostatic hyperplasia.

The association between androgen receptor gene polymorphisms and benign prostatic hyperplasia was investigated among 510 men randomly selected from Olmsted County, Minnesota. From 1990 through 2000, lower urinary tract symptom severity was assessed by the American Urological Association Symptom Index (AUASI), and peak urinary flow rate, prostate volume, and serum prostate-specific antigen level were measured. Androgen receptor CAG and GGN genotyping was performed. A CAG repeat length of <21 was associated with an enlarged prostate (hazard ratio (HR) = 1.4, 95% confidence interval (CI): 1.0, 1.9) and a serum prostate-specific antigen level >1.4 ng/ml (HR = 1.5, 95% CI: 1.1, 2.0). A GGN repeat length of <16 was associated with an AUASI >7 (HR = 1.6, 95% CI: 1.1, 2.3) and a serum prostate-specific antigen level >1.4 ng/ml (HR = 1.5, 95% CI: 1.0, 2.3). Having <21 CAG repeats and <16 GGN repeats compared with having neither was associated with an enlarged prostate (HR = 2.5, 95% CI: 1.5, 4.2), a serum prostate-specific antigen level >1.4 ng/ml (HR = 2.8, 95% CI: 1.6, 4.7), a peak flow rate <12 ml/second (HR = 1.9, 95% CI: 1.1, 3.4), and an AUASI >7 (HR = 1.6, 95% CI: 1.0, 2.7). Androgen receptor gene polymorphisms may have a potential role in the pathogenesis of benign prostatic hyperplasia.

Antigens, Neoplasm↗
PubMed2006

Relationship between IFN-gamma gene polymorphism and susceptibility to intrauterine HBV infection.

AIM: To explore the susceptibility of children to intrauterine HBV infection by studying the relationship between IFN-gamma gene polymorphism, including IFN-gamma+874A/T single nucleotide polymorphism (SNP) and CA repeat microsatellite polymorphism and intrauterine HBV infection. METHODS: A TaqMan fluorescence polymerase chain reaction in the IFN-gamma+874A/T single nucleotide polymorphism was tested in the intrauterine HBV infection group (group I) and the normal immune children group (group II). Capillary electrophoresis was performed in the above two groups to assay the IFN-gamma CA repeat microsatellite polymorphism. RESULTS: Frequencies of AA, AT and TT genotypes were 67.4%, 19.6% and 13.0% in the intrauterine HBV infection group, and 45.2%, 30.1% and 24.7% in the normal immune children group, respectively. A significant difference was found in the frequency distribution of IFN-gamma+874 genotype between the two groups (chi2 = 5.102, P = 0.02389). In the intrauterine HBV infection group the AA genotype was more common than in the normal immune group. Frequency of IFN-gamma+874A allele was 77.17% in the intrauterine HBV infection group, and 60.27% in the normal immune children group. In the intrauterine HBV infection group the IFN-gamma+874A allele was more common than in normal immune group. A significant difference was found in the frequency distribution between the two groups (chi2 = 7.238, P = 0.02389, OR = 2.228, 95% CI = 1.244-3.992). (CA12)+/(CA12)+ of IFN-gamma CA microsatellite polymorphism was 11.90% in the intrauterine HBV infection group and 26.47% in the normal immune children group. A significant difference was found in the frequency distribution between the two groups (chi2 = 5.64, P = 0.0176). Frequency of IFN-gamma CA repeat was 25% in the intrauterine HBV infection group and 43.38% in the normal immune children group. The frequency of IFN-gamma CA repeat was less in the intrauterine HBV infection group than in normal immune group. A significant difference was found in the frequency distribution between the two groups (chi2 = 7.548, P = 0.0060). CONCLUSION: There is a relationship between IFN-gamma+874A/T SNP and intrauterine HBV infection as well as between IFN-gamma CA microsatellite polymorphism and intrauterine HBV infection. IFN-gamma gene polymorphism might be important in determining individual's susceptibility to intrauterine HBV infection.

Alleles↗
PubMed2002

Calcium-sensing receptor gene polymorphism affects the parathyroid response to moderate hypercalcemic suppression in patients with end-stage renal disease.

AIM: The basic mechanism of secondary hyperparathyroidism is still unclear, but a change in Ca2+ sensing by parathyroid cells is possibly involved in this uremic complication. A rightward shift of the calcium set-point and an increase of the minimum secretion rate have been found in secondary hyperparathyroidism, indicating abnormal calcium sensing. METHODS: We evaluated the effect of calcium sensing receptor (CaR) gene polymorphism (codon G990R) on the response of the parathyroid gland to moderate hypercalcemic suppression in 77 ESRD patients on regular hemodialysis (HD using 2.5 mEq/l Ca2+ dialysate). All patients underwent an HD session with 3.0 mEq/l Ca2+ dialysate to suppress parathyroid hormone (PTH). Then we investigated the effect of CaR gene polymorphism on the parathyroid response to hypercalcemic stimulation. RESULTS: Patients were divided into 3 groups on the basis of genotype (GG = 33 patients (42.9%), GR = 39 patients (50.6%), RR = 5 patients (6.5%)). Baseline intact PTH levels in patients without the R allele were not significantly different from those in patients with the R allele (GG group, 181.4 +/- 31.1 pg/ml vs. GR and RR groups, 230 +/- 51.2 pg/ml: mean +/- SEM). The significant effect of moderate hypercalcemic suppression on the intact PTH level was observed in the GG group (p < 0.01) but not in the GR and RR groups, despite the identical increase in Ca2+. CONCLUSION: Our results suggest that CaR gene polymorphism (codon G990R) influences the responsiveness of the parathyroid gland to changes of extracellular Ca2+ in ESRD patients. The glands of patients with the GG genotype of the CaR gene may be more sensitive to extracellular Ca2+ changes.

Calcium↗