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At least 469 records · Page 26Linked to original sources
PubMed1997

Occurrence and clinical relevance of an interleukin-4 gene polymorphism in patients with multiple sclerosis.

An epistatic gene interaction has been advocated to explain disease susceptibility in multiple sclerosis (MS). Cytokine genes are possible candidates due to the central role played by cytokines in the regulation of the immune-mediated pathogenetic process leading to central nervous system demyelination in these patients. Since interleukin (IL)-4 gene polymorphisms have been associated with immune-mediated diseases, we have analysed the relationship between a variable number of tandem repeat polymorphism of the IL-4 gene and clinical and physiological features of 256 sporadic MS patients and 146 healthy controls. Genotype frequencies were similar between the MS group and healthy controls. However, in MS patients a positive and significant correlation (r = 0.91; p < 0.001) was found between the carriage rate of the IL-4 B1 allele (from 0.21 to 0.36) and age of disease onset. No association was found between IL-4 alleles and disease progression, sex or ethnic background of the patients. Our results show that the IL-4 B1 allele is associated with late onset of MS and therefore might represent a modifier of age of onset rather than a susceptibility factor for patients with MS.

Adult↗
PubMed2004

Cytochrome p450 1Al gene polymorphisms in patients with psoriatic arthritis.

OBJECTIVE: To investigate the associations of cytochrome p450 1A1 (CYP1A1) gene polymorphisms with susceptibility to psoriatic arthritis in Taiwan. METHODS: CYP1A1 gene polymorphisms were determined in 52 patients with psoriatic arthritis and in 90 healthy controls by polymerase chain reaction/restriction fragment length polymorphism. RESULTS: The genotype frequency of CYP1A1 4889A/G was significantly increased in patients with psoriatic arthritis in comparison with healthy controls. The phenotype frequency of CYP1A1 4889G was also significantly increased in patients with psoriatic arthritis. The genotype frequency of CYP1A1 4887C/A was significantly higher in patients with psoriatic arthritis than in controls. The allele and phenotype frequencies of 4887A were also significantly increased in patients with psoriatic arthritis. We also found that the association of CYP1A1 4887A with psoriatic arthritis was independent of 4889G but a synergistic effect was present between CYP1A1 4887A and 4889G. The CYP1A1 4889A/G and 4887C/A polymorphisms were not associated with the manifestations and severity of psoriatic arthritis. CONCLUSION: CYP1A1 4887A and 4889G may be precipitating factors for susceptibility to psoriatic arthritis in Taiwan. An additive effect was found between CYP1A1 4887A and 4889G.

Arthritis, Psoriatic↗
PubMed2002

Plasma homocysteine, methylenetetrahydrofolate reductase gene polymorphism and carotid intima-media thickness in Italian type 2 diabetic patients.

BACKGROUND: Moderately elevated levels of homocysteine have been associated with an increased cardiovascular risk in type 2 diabetic patients. The role of methylenetetrahydrofolate reductase gene polymorphism is less clear. MATERIALS AND METHODS: We investigated the contribution of plasma homocysteine levels and the methylenetetrahydrofolate reductase gene polymorphism to the variability of carotid intima-media thickness in 124 consecutive Italian patients with type 2 diabetes mellitus. Fasting plasma homocysteine was measured by high-pressure liquid chromatography with an electrochemical detector; methylenetetrahydrofolate reductase genotypes were determined by polymerase chain reaction and restriction enzyme digestion. The carotid intima-media thickness was evaluated with high-resolution B-mode ultrasonography. RESULTS: Age, creatinine and plasma homocysteine levels showed a positive correlation with mean carotid intima-media thickness values, but only age and creatinine levels were still associated with mean carotid intima-media thickness values in the multivariate analysis. Plasma homocysteine levels were significantly higher in the patients bearing the 677T/677T genotype of the methylenetetrahydrofolate reductase polymorphism; mean carotid intima-media thickness values were not different in the three different methylenetetrahydrofolate reductase genotypes. CONCLUSION: In 124 Italian patients with type 2 diabetes mellitus, basal levels of plasma homocysteine, as well as methylenetetrahydrofolate reductase gene polymorphism, did not explain the variability of mean carotid intima-media thickness.

Aged↗
PubMed2006

Microbiological composition associated with interleukin-1 gene polymorphism in subjects undergoing supportive periodontal therapy.

BACKGROUND: Interleukin-1 gene polymorphism (IL-1 gene) has been associated with periodontitis. The present study examined the subgingival microbiota by IL-1 gene status in subjects undergoing supportive periodontal therapy (SPT). METHODS: A total of 151 subjects with known IL-1 gene status (IL-1A +4845/IL-1B -3954) (IL-1 gene) were included in this study. Clinical data and subgingival plaque samples (40 taxa) were collected. These taxa were determined by the checkerboard DNA-DNA hybridization method. RESULTS: Gender, smoking habits (n-par tests), age, and clinical periodontal conditions did not differ by IL-1 gene status. IL-1 gene-negative subjects had a higher total bacterial load (mean difference, 480.4 x 10(5); 95% confidence interval [CI], 77 to 884 x 10(5); P <0.02). The levels of Actinobacillus actinomycetemcomitans (mean difference, 30.7 x 10(5); 95% CI, 2.2 to 59.5 x 10(5); P <0.05), Eubacterium nodatum (mean difference, 4.2 x 10(5); 95% CI, 0.6 to 7.8 x 10(5); P <0.02), Porphyromonas gingivalis (mean difference, 17.9 x 10(5); 95% CI, 1.2 to 34.5 x 10(5); P <0.05), and Streptococcus anginosus (mean difference, 4.0 x 10(5); 95% CI, 0.2 to 7.2 x 10(5); P <0.05) were higher in IL-1 gene-negative subjects, an observation specifically found at sites with probing depths <5.0 mm. CONCLUSIONS: Bleeding on probing did not differ by IL gene status, reflecting clinical SPT efficacy. IL-1 gene-negative subjects had higher levels of periodontal pathogens. This may suggest that among subjects undergoing SPT, a lower bacterial load is required in IL-1 gene-positive subjects to develop the same level of periodontitis as in IL-1 gene-negative subjects.

Adult↗
PubMed2003

The ALUI calcitonin receptor gene polymorphism (TT) is associated with low bone mineral density and susceptibility to osteoporosis in postmenopausal women.

Osteoporosis is a common disorder with a strong genetic component. Our aim was to evaluate the correlation of the ALUI calcitonin receptor gene polymorphism to bone mineral density and their relationship to osteoporosis. We determined the ALUI calcitonin receptor gene polymorphism using polymerase chain reaction-based restriction analysis in 167 postmenopausal women in Taiwan. The polymorphism was detected by the restriction enzyme ALUI, where the C allele indicated the absence of the cuttable site and the T allele indicated its presence. Bone mineral density of the lumbar spine and proximal femur were measured using dual-energy X-ray absorptiometry. The allelic frequencies for the 167 postmenopausal women in Taiwan were 86.5% for C and 13.5% for T in ALUI restriction fragment length polymorphisms. The prevalence of each genotype in the study population was 2.4% TT, 22.2% CT, and 75.4% CC. The three genotypic groups differed significantly in unadjusted and adjusted bone mineral density at the lumbar spine and the femoral neck. Unadjusted and adjusted bone mineral density values were lowest in women with the TT genotype. The ALUI calcitonin receptor genotype showed a positive association with prevalence of osteoporosis in the subjects. That is, women with genotype TT had a greater risk for developing osteoporosis at the lumbar spine and at the femoral neck. The ALUI calcitonin receptor gene polymorphism is associated with reduced bone mineral density and predisposes women to osteoporosis, but should be interpreted with caution because of the small number of subjects in the unfavorable TT genotype.

Absorptiometry, Photon↗
PubMed2002

MICA gene polymorphism is not associated with an increased risk for skin cancer.

The MICA gene encodes for major histocompatibility complex class I chain-related proteins (MIC), which belong to a recently identified new family of nonclassical major histocompatibility complex molecules. The general structure of the MICA molecule resembles that of major histocompatibility complex class I molecules. MIC molecules are considered to be stress-induced antigens that are recognized by cytotoxic T cells and natural killer cells, which play an important role in the surveillance of transformed infected and damaged cells. Associations of major histocompatibility complex class I molecules with skin cancer have been described before. To evaluate the possible association of MICA gene polymorphism with the risk for nonmelanoma skin cancer we evaluated 153 cases with squamous cell carcinoma, 261 cases with basal cell carcinoma, 111 controls with malignant melanoma, and 247 controls without a history of skin cancer. Five distinct MICA alleles A4, A5, A6, A9, and A5.1 were studied. As the MICA 5.1 variant gene contains a four-nucleotide insertion that causes a stop codon in the trans membrane region, the resulting truncated MICA molecule does not reside on the cellular membrane. In the case of individuals who are homozygous for MICA 5.1 this results in cells that are naked for the MICA molecule. We therefore specifically addressed the possible association between MICA 5.1 homozygosity and skin cancer, as these individuals are expected to be at the highest risk for skin cancer if the MICA gene plays a role in skin carcinogenesis. Viral proteins may serve as antigens for recognition of skin cancer by the immune system. Human papillomavirus is the most likely candidate virus to be involved in the carcinogenesis of cutaneous squamous cell carcinoma. Hence, we also assessed the association between MICA polymorphism and squamous cell carcinoma in human-papillomavirus-positive and human-papillomavirus-negative individuals as identified by the presence of human papillomavirus DNA in hairs plucked from their eyebrows. Our analyses did not reveal any significant differences regarding the MICA allele frequencies between cases and controls. Also homozygotes and heterozygotes for the MICA 5.1 variant gene were not at an increased risk for skin cancer compared to individuals without this variant gene and infection with human papillomavirus did not materially influence these findings. The same group of cases and controls was large enough to show an association between melanocortin 1 receptor gene polymorphism and skin cancer and to reasonably exclude an association between p53 codon 72 polymorphism and skin cancer. Therefore, we conclude that an association between MICA gene polymorphism and nonmelanoma skin cancer is not likely.

Adult↗
PubMed2000

Association of angiotensin I converting enzyme gene polymorphism with reflux nephropathy in children.

Deletion polymorphism of angiotensin I converting enzyme (ACE) gene has been studied as a risk factor in various cardiovascular diseases and chronic nephropathies. Perturbation of local and systemic renin-angiotensin systems is one of the possible mechanisms of the progression of reflux nephropathy. In this study, the implication of ACE gene polymorphism in renal scarring and deterioration of renal function was analyzed in 66 children with vesicoureteral reflux. The genotype for the polymorphism was determined by PCR, and renal scar was identified by (99m)Tc-DMSA renal scan. The allelic frequency of the deletion polymorphism showed no significant difference either between patients with normal renal function and those with decreased renal function or between patients with renal scar and those without. We conclude that deletion polymorphism of ACE gene, as an independent variable, is not associated with reflux nephropathy in children with vesicoureteral reflux.

Adolescent↗
PubMed2000

The role of cytokines and cytokine gene polymorphism in T-cell activation and allograft rejection.

INTRODUCTION: Cytokines are largely responsible for the regulation of immunoregulatory events and therefore play an important role in transplantation immunology. Recent advances in genetics have made it possible to study the role of cytokine gene polymorphisms in allograft rejection. METHODS: This review describes studies that have analysed genetic variants in relation to renal disease and transplantation. RESULTS AND CONCLUSION: Polymorphism of cytokine gene promoters can significantly influence the level of cytokine production, which in turn affects the amount of immunosuppression needed. It is possible that in future, genotyping of transplant recipients with respect to their cytokine gene polymorphisms may help determine their risk of allograft rejection, and thus, provide a guide to individualised immunosuppression in the post-transplant period.

Animals↗
PubMed2002

Estrogen receptor beta gene polymorphisms are associated with higher bone mineral density in premenopausal, but not postmenopausal southern Chinese women.

Bone mineral density (BMD), the main determining risk factor for osteoporotic fractures, has a strong genetic component. Estrogen and its receptors play a critical role in both skeletal maturity and bone loss. We investigated the association between dinucleotide (cytosine-adenine; CA) repeat polymorphisms located in the flanking region of the estrogen receptor beta gene and bone mineral density (BMD) in 325 healthy southern Chinese women. BMD at the lumbar spine and hip region were measured using dual-energy X-ray absorptiometry (DEXA). The number of the repeats observed in our population ranged from 16 to 28. After adjusting for age, height, weight, and years of estrogen exposure, we observed that premenopausal subjects (n = 120) bearing at least one allele of 20 CA repeats had significantly higher BMD at the L2-4 lumbar spine (1.049 +/- 0.016 vs. 0.984 +/- 0.015; p = 0.01), total hip (0.836 +/- 0.014 vs. 0.813 +/- 0.013; p < 0.02), femoral neck (0.773 +/- 0.014 vs. 0.728 +/- 0.013; p = 0.02), trochanter (0.665 +/- 0.013 vs. 0.614 +/- 0.012; p = 0.01), and Ward's triangle (0.715 +/- 0.017 vs. 0.651 +/- 0.016; p = 0.02). There was no difference in the vertebral area of L-3 and femoral neck width in these premenopausal women with or without 20 CA repeats. However, in postmenopausal women (n = 205), Estrogen receptor beta (ER beta) gene polymorphisms were not related to BMD at any skeletal site. We conclude that ER beta gene polymorphisms are associated with higher BMD in premenopausal women, suggesting that the ER beta gene may have a modulatory role in bone metabolism in young adulthood.

Adult↗
PubMed1998

Inflammatory bowel disease: no association between allele combinations of the interleukin (IL) I beta and IL-I receptor antagonist gene polymorphisms.

BACKGROUND: Interleukin 1 (IL-1) and its physiological antagonist interleukin-1 receptor antagonist (IL-1 ra) play a crucial role in the pathogenesis of inflammatory bowel disease. Polymorphisms in the genes coding for these cytokines, the restriction enzyme TaqI polymorphism for IL-1 beta and the variable number of tandem repeats (VNTR) polymorphism for IL-1 ra, have been shown to influence cytokine synthesis in vitro. Recently, an association has been described for distinct allele combinations of these two polymorphisms in patients with ulcerative colitis and with Crohn's disease but not in healthy control subjects. METHODS: We studied 56 patients with ulcerative colitis, 64 patients with Crohn's disease and 196 healthy control subjects. All were unrelated Caucasians of European ancestry. After polymerase chain reaction (PCR) the amplification products were analysed on agarose gels. For the IL-1 beta polymorphism the PCR product was additionally digested using the restriction enzyme TaqI. RESULTS: The allele and genotype frequencies as well as the carriage rates of the IL-1 beta TaqI polymorphism in healthy control subjects were in agreement with previous findings in other populations. Allele and genotype frequencies of the IL-1 beta polymorphism were not different in inflammatory bowel disease patients compared with healthy control subjects. Comparing allele combinations of both polymorphisms no association could be identified either within healthy control subjects or in the groups of patients with ulcerative colitis or Crohn's disease. CONCLUSION: Thus, we could not confirm the results of a previous study reporting an association between the IL-1ra and IL-1 beta gene polymorphisms in patients with inflammatory bowel disease.

Adult↗
PubMed2006

Cyclin D1 (CCND1) A870G gene polymorphism modulates smoking-induced lung cancer risk and response to platinum-based chemotherapy in non-small cell lung cancer (NSCLC) patients.

PURPOSE: The cyclin D1 (CCND1) A870G gene polymorphism is linked to the outcome in patients with resectable non-small cell lung cancer (NSCLC). Here, we investigated the impact of this polymorphism on smoking-induced cancer risk and clinical outcome in patients with NSCLC stages I-IV. METHODS: CCND1 A870G genotype was determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism analysis (RFLP) of DNA extracted from blood. The study included 244 NSCLC patients and 187 healthy control subjects. RESULTS: Patient characteristics were: 70% male, 77% smokers, 43% adenocarcinoma, and 27% squamous cell carcinoma. Eighty-one percent of the patients had stages III-IV disease. Median age at diagnosis was 60 years and median survival was 13 months. Genotype frequencies of patients and controls both conformed to the Hardy Weinberg equilibrium. The GG genotype significantly correlated with a history of heavy smoking (>or=40 py, P=0.02), and patients with this genotype had a significantly higher cigarette consumption than patients with AA/AG genotypes (P=0.007). The GG genotype also significantly correlated with tumor response or stabilization after a platinum-based first-line chemotherapy (P=0.04). Survival analysis revealed no significant differences among the genotypes. CONCLUSION: Evidence was obtained that the CCND1 A870G gene polymorphism modulates smoking-induced lung cancer risk. Further studies are required to explore the underlying molecular mechanisms and to test the value of this gene polymorphism as a predictor for platinum-sensitivity in NSCLC patients.

Adult↗
PubMed2003

[Relationship between ALDH gene polymorphism and alcoholic liver diseases].

OBJECTIVE: To study the relationship between aldehyde dehydrogenase (ALDH) gene polymorphism and alcoholic liver disease, and investigate the genetic pathogenesis of alcoholic liver disease (ALD). METHODS: PCR, restriction endonuclease and electrophoresis were used, to detect the genotypes and alleles frequencies of ALDH gene in patients in the control group, alcohol dependent group and ALD group, and each group contained 20 patients. RESULTS: The frequencies of ALDH2*1 and ALDH2*2 allele had statistic significance between control group and ALD group (x2=4.80, P<0.05), and no statistic significance between control group and alcohol dependent group. ALDH2*1/*1 was predominant in alcohol dependent group and ALD group, while ALDH2*2/*2 was not detected. CONCLUSIONS: The gene polymorphism of ALDH is close to ALD. The allele of ALDH2*2 may be a negative risk factor for the developing of ALD

Adult↗
PubMed2005

Interleukin 1 receptor antagonist and tumor necrosis factor-alpha gene polymorphism in patients with end-stage renal failure.

End-stage-renal disease (ESRD) is a final result of various etiologies. Prognostic indicators leading to ESRD in chronic kidney diseases have been studied extensively, of which, genetic factors remain a subject of great concern. Interleukin-1 (IL-1) and tumor necrosis factor-alpha (TNF-alpha) are potent proinflammatory cytokines that are involved in several chronic kidney diseases. Studies on cytokine gene polymorphism have revealed important information about the role of genetic factors in disease susceptibility and severity. Gene polymorphism of interleukin-1 receptor antagonist (IL-1ra) and TNF-alpha were determined in 297 ESRD patients and in 145 normal healthy controls. IL-1ra gene polymorphism was characterized as a variable number of tandem repeats of a 86 bp sequence within intron 2. Five alleles were identified and were designated as IL1RN*1, IL1RN*2, IL1RN*3, IL1RN*4, and IL1RN*5, corresponding to 4,2,5,3, and 6 repeats, respectively. A polymorphism in the promoter region of the TNF-alpha gene was also studied. This polymorphism involved a guanidine to adenosine transition at position -308 and was designated as TNF1 (- 308 G) and TNF2 (-308 A). The genotypes and allele frequencies were compared between patients and control group. The distributions of genotypes of IL-1ra and TNF-alpha did not differ significantly between ESRD patients and normal controls. Analysis of allele frequencies revealed a trend toward an increase in IL1RN*2 frequency (7.5% versus 3.8 %, p=0.064) and noncarriage of TNF2 in the patient group (7.2% versus 11.0%, p=0.076) when compared with the control group. When both alleles were considered together, the patient group had a significantly higher frequency of carriage of IL1RN*2 in combination with noncarriage of TNF2 (p=0.0468). We conclude that carriage of IL-1RN*2 and noncarriage of TNF2 allele appear to be poor prognostic factors in patients suffering from various chronic renal diseases that eventually enter end-stage renal failure.

Adolescent↗
PubMed2004

Endothelial nitric oxide synthase gene polymorphism is associated with systemic lupus erythematosus.

OBJECTIVE: In systemic lupus erythematosus (SLE), endothelial nitric oxide synthase (eNOS) gene locus has been found to be suggestive of linkage with disease, nitric oxide (NO) is produced in significant amounts, and endothelial cell dysfunction is observed. eNOS gene polymorphism may affect both the synthesis of eNOS protein and its enzymatic activity. We examined the influence of eNOS gene polymorphisms on susceptibility to SLE. METHODS: Genomic DNA from 88 Northwestern Colombian women with SLE, as well as 199 controls matched for sex, age, and ethnicity, was genotyped for the -786T -- > C polymorphism in the promoter region, the intron 4 variable number of tandem repeats, and the Glu298Asp polymorphism in exon 7 of the eNOS gene by polymerase chain reaction and restriction fragment length polymorphism techniques. Haplotype and allele frequency comparisons, a Hardy-Weinberg equilibrium test, and linkage disequilibrium (LD) analysis were performed. RESULTS: The intron 4b allele was associated with SLE (OR 2.2, 95% CI 1.29-3.60, pc = 0.005) as was the 4bb genotype (OR 2.9, 95% CI 1.61-5.33, pc = 0.0009), while the 4a allele was protective (OR 0.4, 95% CI 0.26-0.76, pc = 0.005), as was the 4ab genotype (OR 0.29, 95% CI 0.15-0.56, pc < 0.0001). In controls, all loci were in linkage disequilibrium (p < 0.02). In patients, intron 4 was in Hardy-Weinberg disequilibrium, due to an excess of homozygotes (p = 0.01). CONCLUSION: eNOS polymorphism influences SLE predisposition. Since intron 4bb genotype is responsible for higher levels of eNOS synthesis and intron 4 ab genotype is associated with lower synthesis, our results might provide insight into the elevated levels of NO observed in SLE patients.

Adult↗
PubMed2002

Absence of association of the serotonin transporter gene polymorphism with the mentally healthy subset of fibromyalgia patients.

The serotonin transporter (5-HTT) gene is considered to be a promising candidate for genetic involvement in some mood disorders owing to its role in the regulation of serotoninergic neurotransmission. In this study, we aimed to assess the significance of the 5-HTT gene in fibromyalgia syndrome (FS) as well as to find out whether the 5-HTT gene polymorphism is associated with this disease. Fifty-three mentally healthy fibromyalgia patients and 60 unrelated healthy volunteer controls were included in the study. Symptom Checklist-90-Revised (SCL-90-R), Beck Depression Inventory (BDI), and State and Trait Anxiety Inventory tests (STAI-I and II) were applied to both patients and controls. A PCR analysis of 5-HTT gene polymorphism was performed, and the results of the patients with FS and healthy controls were compared. In both FS patients and healthy controls the S/S, S/L and L/L alleles of the 5-HTTLPR genotype were represented in 24.5 % and 33%, 56.6% and 38.3%, and 18.9% and 28.3%, respectively. Additionally, in FS patients and healthy controls the 10/10, 10/12 and 12/12 alleles of the VNTR variant were represented in 5.9% and 11.7, 51% and 36.7%, and 43.1% and 51.7%, respectively. The 5-HTTLPR and VNTR results of the patients and controls were not significantly different ( P>0.05). We concluded that neither 5-HTT nor its polymorphism is associated with FS. Our results also address the frequencies of 5-HTT gene alleles in our population. Further studies are required to better understand the genetic basis of FS.

Adult↗
PubMed2005

Renin-angiotensin system gene polymorphisms predict the progression to renal insufficiency among Asians with lupus nephritis.

The renin-angiotensin system (RAS) is a strong candidate as a mediator for the development and progression of lupus nephritis (LN). We performed an ethnically stratified analysis of 642 systemic lupus erythematosus (SLE) patients to determine whether various functional RAS gene polymorphisms are associated with SLE renal outcomes. Patients were genotyped for two angiotensin-converting enzyme (ACE) gene polymorphisms: Alu insertion/deletion (I/D) and 23 949 (CT)(2/3), and for two angiotensinogen (Atg) gene polymorphisms: M235T and C-532T. Multivariate analyses demonstrated associations between the ACE I/D, ACE (CT)(2/3) and Atg C-532T functional polymorphisms and LN among Asians. In stratified analyses among LN cases according to high vs low glomerular filtration rate (GFR), associations remained significant for the ACE D (odds ratio (OR) 5.9, P=0.001) and (CT)(2) (OR 6.2, P=0.001) alleles among Asian subjects with low GFR. Lastly, we found allelic dose-dependent associations between the ACE I/D (P=0.003), ACE (CT)(2/3) (P=0.005) and Atg M235T (P=0.04) polymorphisms, and GFR analyzed as a continuous variable among Asians. These findings suggest a significant role for ACE and Atg gene sequence variation and severity of LN among Asians with SLE.

Adult↗
PubMed2002

G-protein beta-3-subunit and eNOS gene polymorphism in transplant recipients with long-term renal graft function.

BACKGROUND: Despite new immunosuppressive drugs, only a minority of graft survive over 15 years. The aim of our study was to determine the influence of gene polymorphisms in the G-protein-beta(3) subunit (Gbeta3) and endothelial nitric oxide synthase (eNOS) on the long-term outcome of kidney grafts. METHODS: Using PCR, corresponding genotypes in Gbeta3 (C825T) and eNOS (G894T) gene polymorphism were evaluated in patients with preserved graft function over 15 years and in a control group of transplant recipients. RESULTS: There were no differences in allele and genotype distributions of both polymorphisms between groups. In Gbeta3 polymorphism, the 825T allele carriers had a significantly lower body mass index while in eNOS polymorphism there were no links between genotypes, renal function and atherosclerosis risk factors. CONCLUSIONS: Our data suggest that these gene polymorphisms have only a minor influence on long-term renal graft function.

Alleles↗
PubMed2006

Lack of association between putative transporter gene polymorphisms in Plasmodium falciparum and chloroquine resistance in imported malaria isolates from Africa.

BACKGROUND: Plasmodium falciparum drug resistance represents a major health problem in malaria endemic countries. The mechanisms of resistance are not fully elucidated. Recently, an association between putative transporter gene polymorphisms and in vitro response to chloroquine (CQ) and quinine has been reported in culture-adapted, cloned isolates from various geographical origins. However, this was not confirmed in another study performed on isolates from a defined region in Thailand. METHODS: This study tried to find an association between putative transporters gene polymorphisms with in vitro response to CQ and pfcrt genotype in isolates originating from various African countries. To avoid biases of parasites adaptation in culture, fresh isolates obtained from symptomatic, malaria-infected travellers returning from Africa to France were used. Monoclonal isolates included in the study were selected using a msp-2 fragment analysis method. In vitro susceptibility to CQ, single nucleotide polymorphisms and microsatellite polymorphisms in pfcrt, pfmdr1 and six putative transporter genes were established in 27 isolates and three reference strains. RESULTS: Polymorphism of pfcrt at positions 76 and 220 showed a significant association with in vitro chloroquine resistance (P < .02 and P < .05 respectively). Polymorphism of pfmdr1 at position 86 showed an equally significant association with in vitro chloroquine response (P < .05). No association was found between SNPs or microsatellite polymorphisms of putative transporter genes and in vitro CQR or pfcrt genotype in imported malaria isolates from Africa. CONCLUSION: The previously described association between putative transporter gene polymorphisms and in vitro response to chloroquine (CQ) was not confirmed in the present study.

Africa↗