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PubMed2004

H. pylori infection: bacterial virulence factors and cytokine gene polymorphisms as determinants of infection outcome.

The gram negative bacterium H. pylori infects the human stomach worldwide, invariably causing mucosal inflammation. In the majority of cases, H. pylori-associated gastritis remains the only clinical manifestation of the infection, which might cause, otherwise, peptic ulcer, gastric adenocarcinoma. or MALToma. The balance between the bacterial virulence machinery and the host response to the infection determines the different clinical outcomes. The main bacterial virulence factors comprise adhesins (BabA, SabA), the vacuolating cytotoxin VacA, and the products of cag pathogenicity island. The pattern of cytokine production in response to the infection is one of the main host determinants involved in limiting the infection outcome to gastritis or in favoring peptic ulcer or cancer onset. The polymorphisms of some cytokine genes (IL-1beta IL-1RN, TNF-alpha, IFN-gamma) have been correlated with H. pylori-associated gastric adenocarcinoma or peptic ulcer, possibly because they influence the amount of cytokine production in response to H. pylori infection. This review focuses on the role of H. pylori virulence genes and on host cytokines' genes polymorphisms in determining clinical outcome to H. pylori infection.

Animals↗
PubMed2006

IL-1RN gene polymorphism is associated with peri-implantitis.

OBJECTIVES: Interleukin (IL)-1alpha, IL-1beta and their natural specific inhibitor IL-1 receptor antagonist (IL-1ra) play a key role in the regulation of the inflammatory response in periodontal tissues. Polymorphisms in the IL-1 gene cluster have been associated with severe adult periodontitis. We aimed to investigate the IL-1 gene cluster polymorphisms in patients with peri-implantitis. MATERIAL AND METHODS: The study included 120 North Caucasian individuals. A total of 71 patients (mean age 68 years, 76% smokers) demonstrating peri-implantitis at one or more implants as evidenced by bleeding and/or pus on probing and bone loss amounting to >3 threads on Brånemark implants and 49 controls (mean age 66 years, 45% smokers) with clinical healthy mucosa and no bone loss around the implants were recruited for the study. The titanium implants, ad modum Brånemark, had been in function for at least 2 years. Mouthwash samples were collected and used for genotyping of the bi-allelic polymorphisms IL-1A(-889), IL-1B(+3953), IL-1B(-511) and a variable number of tandem repeat IL-1RN gene polymorphisms using PCR technique. RESULTS: Significant differences were found in the carriage rate of allele 2 in the IL-1RN gene between peri-implantitis patients and controls (56.5% vs. 33.3%, respectively; odds ratios (OR) 2.6; 95% confidence interval (CI) 1.2-5.6; P=0.015). Logistic regression analysis taking smoking, gender and age into account confirmed the association between the IL-1RN allele 2 carriers and peri-implantitis (OR 3; 95% CI 1.2-7.6; P=0.02). CONCLUSIONS: Our results provide evidence that IL-1RN gene polymorphism is associated with peri-implantitis and may represent a risk factor for this disease.

Age Factors↗
PubMed2001

[Association between renin-angiotensin system gene polymorphism and type 2 diabetics with stroke in China].

OBJECTIVE: The aim of this study was to explore the association between gene polymorphisms of renin-angiotensin system (RAS) and type 2 diabetes mellitus (DM2) complicated with stroke. METHODS: Angiotensin 1-converting enzyme (ACE) genotypes and type 1 angiotensin II receptor(AT1R) genotypes were investigated with PCR and PCR/DdeI enzyme digesting techniques in 152 cases of DM2. RESULTS: No significant differences in genotype frequencies of AT1R gene were found between DM2 complicated with stroke and that without stroke (P> 0.05). The C allele frequency of AT1R gene in DM2 with stroke was higher than that in DM2 without stroke (6.8% vs 1.9% P< 0.05; OR=3.693, 95% CI: 0.977-13.704). The ACE DD genotype and D allele frequencies were higher in DM2 with stroke than in DM2 without stroke(51.4% vs 33.3%, P<0.05; 69.6% vs 54.5%, P<0.05). There was interaction between AT1R gene A1166C polymorphism and ACE gene I/D polymorphism in the development of stroke in DM2 patients (P<0.05; OR=4.00, 95% CI: 0.733-21.838). Logistic regression analysis showed that ACE DD genotype, systolic blood pressure and serum uric acid level were risk factors of DM2 complicated with stroke. CONCLUSION: It is suggested that ACE gene I/D polymorphism is a susceptible gene for stroke in DM2 patients in China. AT1R gene A1166C polymorphism contributes to the development of stroke in DM2 patients, but it is not an independent risk factor. There is synergistic effect of AT1R A1166C and ACE I/D gene polymorphisms on the occurrence and development of stroke in type 2 diabetics in China.

Aged↗
PubMed2006

Ctla-4 exon 1 (+49) and promoter (-318) gene polymorphisms in kidney transplantation.

To investigate the association between kidney transplant rejection and the polymorphisms of CTLA-4 gene exon 1(+49) and promoter (-318), genomic DNA of 70 renal transplant recipients and 110 healthy blood donors were genotyped by PCR-RFLP and PCR-SSP, respectively. The patients were classified in two groups: G1 included 33 HLA-identical recipients and G2, 37 one haplo-identical recipients. Thirty-one recipients experienced an acute rejection episode: 10 in G1 and 21 in G2. Ten G2 patients developed chronic allograft dysfunction (CAD). Allelic frequencies and genotype distribution were similar among patients and controls. CTLA-4 exon 1 genotype A/A and CTLA-4 promoter genotype C/C were significantly higher among G2 patients with CAD than without CAD (P < .01). The distribution of CTLA-4 exon 1-promoter genes did not reach significance between graft recipients and controls. The genotype frequency of (G/G-C/C) was increased among controls (42.72%) compared with graft recipients (G1 and G2; 35.71%). CTLA-4 polymorphisms gene were associated with susceptibility to chronic allograft dysfunction.

Antigens, CD↗
PubMed2000

Association between type 1 diabetes age-at-onset and intercellular adhesion molecule-1 (ICAM-1) gene polymorphism.

We investigated the intercellular adhesion molecule-1 (ICAM-1) gene polymorphism in 90 patients with young-onset type 1 diabetes, 74 with adult-onset type 1 diabetes, and 171 control subjects. The distribution of C-T genotypes and allele frequencies in exon 6 of the ICAM-1 gene was significantly different between adult-onset type 1 diabetes patients and controls (chi(2) = 9.76, p = 0.0076), and between patients with adult-onset and young-onset type 1 diabetes (chi(2) = 11.28, p = 0.0036). In contrast, we failed to detect any association between patients with young-onset type 1 diabetes and controls. Our data suggest that ICAM-1 exon 6 gene polymorphism affects the age-at-onset of type 1 diabetes and that different pathogenetic mechanisms may exist between young-onset and adult-onset type 1 diabetes.

Adolescent↗
PubMed2004

[Potential effect of tumor necrosis factor-alpha and tumor necrosis factor receptor II gene polymorphisms on the pathogenesis of silicosis].

OBJECTIVE: To approach the role of tumor necrosis factor-alpha (TNF-alpha) and tumor necrosis factor receptor II (TNFR II) gene polymorphisms in genetic susceptibility to silicosis and their interaction with silica-dust exposure. METHODS: Two hundred and fifty-nine cases of silicosis and three hundred and forty-one silica-dust exposure workers (control) were selected, and the cases of silicosis were divided into three subgroups based on the various stages of I, II and III. Exposure history, pneumoconiosis history and past history of each subject were obtained by questionnaire. 3 ml peripheral venous blood was drawn from each subject. Using polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) techniques, TNF-alpha and TNFRII gene polymorphisms were analyzed. RESULTS: In both group matching and 1:1 paired matching, there was no significant difference between cases of silicosis and workers in control in distribution frequencies of G/A + A/A (TNF-alpha-308) and T/G + G/G (TNFRII 196) genotypes. The risk of silicosis in those with G/A + A/A genotype was 6.74-fold higher than G/G genotype (OR = 6.74, 95% CI: 1.01 approximately 44.99) in subjects whose exposure time was less than 15 years. CONCLUSION: TNF-alpha and TNFR II gene polymorphisms did not play an important role in susceptibility to silicosis of Han race. There was interaction between polymorphism of TNF-alpha gene promoter and exposure time in the occurrence of silicosis. The risk of silicosis in those with G/A + A/A genotype was significantly higher than G/G genotype in low accumulative exposure.

Adult↗
PubMed2005

[Association of estrogen receptor gene polymorphisms and primary trigeminal neuralgia].

OBJECTIVE: To investigate the association of estrogen receptor (ER) gene polymorphism and primary trigeminal neuralgia. METHODS: By polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), ER gene polymorphism was analyzed in 20 trigeminal neuralgia (TR) patients and 20 control individuals, and the distribution of ER genotype was compared in TR group and control group. RESULTS: There was no significant difference in frequencies of allele and genotype in XbaI or PvuII polymorphism or XbaI with PvuII polymorphisms together between TR group and control group (P > 0.05). The genotypic distribution of Xx or PpXx in TR group was higher than control group, and it was contary to xx, ppxx or Ppxx in TR group and control group. CONCLUSION: XbaI or PvuII polymorphism may be related to TR. Women with PpXx genotype may be a dangerous factor to primary trigeminal neuralgia.

Female↗
PubMedDate not supplied

The BsmI vitamin D receptor gene polymorphism in Israeli populations and in perimenopausal and osteoporotic Ashkenazi women.

BACKGROUND: The association between vitamin D receptor (VDR) gene polymorphisms and bone mineral density (BMD) is controversial, and may be effected by ethnic ancestry and age. AIMS: To determine the distribution of the BsmI VDR gene polymorphism in healthy Israeli populations, and to study its association with BMD in perimenopausal and osteoporotic Ashkenazi women. METHODS: Allele and genotype frequencies of the VDR gene defined by BsmI restriction site were determined in 634 healthy Israelis of seven ethnic groups, 90 Ashkenazi perimenopausal women and in 75 Ashkenazi osteoporotic women. Genotype-related differences in spinal and femoral neck BMD were determined in Ashkenazi perimenopausal women. Allele and genotype frequencies in Ashkenazi osteoporotic women were compared with Ashkenazi controls. RESULTS: The frequency of the BB genotype was higher in Yemenites compared with Ashkenazi and Libyan Jews (23, 11 and 8%, respectively, p < 0.05), and lower in Ashkenazi compared with Iraqi and Persian Jews (11, 20 and 21%, respectively, p = 0.05). BMD did not vary by genotype in perimenopausal women, nor were there differences in the frequencies of the B allele or the BB genotype in osteoporotic women compared with controls. CONCLUSIONS: There is ethnic variability in the frequency of the BsmI VDR gene polymorphism. In Ashkenazi perimenopausal and osteoporotic women this polymorphism is not associated with BMD.

Adolescent↗
PubMed1995

Analysis of methicillin-resistant and methicillin-susceptible Staphylococcus aureus by a molecular typing method based on coagulase gene polymorphisms.

A molecular typing method for Staphylococcus aureus based on coagulase gene polymorphisms (coagulase gene typing) was evaluated by examining a total of 240 isolates which comprised 210 methicillin-resistant S. aureus (MRSA) and 30 methicillin-susceptible S. aureus (MSSA) collected from a single hospital. By AluI restriction enzyme digestion of the PCR-amplified 3'-end region of the coagulase gene including 81-bp repeated units, the MRSA and MSSA isolates examined were divided into 6 and 12 restriction fragment length polymorphism (RFLP) patterns, respectively, whereas five patterns were commonly detected in MRSA and MSSA. MRSA isolates that showed a particular RFLP pattern were considered to be predominant in the hospital. Coagulase typing with type-specific antisera was also performed for all S. aureus isolates for comparison. Coagulase types II and VII were most frequently detected and included isolates with four and five different AluI RFLP patterns, respectively, whereas each of the other coagulase types corresponded to a single RFLP pattern. These results indicated that RFLP typing was more discriminatory than serological typing, for typing S. aureus and demonstrated its utility in epidemiologic investigation of S. aureus infection in hospitals.

Bacterial Typing Techniques↗
PubMed2006

Allowing for missing data at highly polymorphic genes when testing for maternal, offspring and maternal-fetal genotype incompatibility effects.

Genes can be associated with disease through an individual's inherited genotype, the maternal genotype or the interaction between these two. When the gene is highly polymorphic, it is more difficult to identify the gene's functional role than for less polymorphic loci, because different alleles at the locus may be associated with the disease through separate and joint effects from maternal and offspring genotypes. Family-based studies are used to test genetic associations because of their robustness to population stratification. However, parental genotype data are often missing, and omitting incompletely genotyped families is inefficient. Methods have been proposed to accommodate incomplete families in family-based association studies. They are not easily generalized to allow simultaneous examination of offspring allelic, maternal allelic and maternal-fetal genotype (MFG) incompatibility effects. Since many MFG incompatibility effects occur through matching between maternal and offspring's genotypes, we present an identity-by-state (IBS) framework to incorporate incomplete families in the MFG test when modeling genetic effects produced by a polymorphic gene. Using simulations, we examine the MFG test's performance with incomplete parental genotype data and an IBS framework. The MFG test using the IBS framework is immune to population stratification and efficiently uses information from incomplete families.

Algorithms↗
PubMed2004

Age-related influence of common aromatase gene polymorphisms on bone mass of healthy men.

Androgens and estrogens are critical factors for bone homeostasis; hence, polymorphisms of genes involved in the metabolism and activity of sex steroids are likely candidates to influence bone mass. Therefore, we studied the association of two of those microsatellite polymorphisms, situated in intron 4 of CYP19-aromatase and exon 1 of androgen receptor, with bone mass in a group of 324 healthy men of a wide age range (mean age 49, range 22-75). CYP19 and androgen receptor alleles were typed by capillary electrophoresis after PCR amplification. Bone mass was measured by dual X-ray absorptiometry at the hip and the spine. No association was found between androgen receptor variation and bone mass. However, among the 184 subjects aged more than 45 years, a significant association was found between CYP19 alleles and bone mass at the lumbar spine (P = 0.001) and total hip (P = 0.01). Individuals with long alleles had higher bone mass, even after adjusting for body weight, height, or calcium intake. Mean spine Z scores were -0.1 (95% CI, -0.3 to 0.2), -0.1 (-0.4 to 0.2), and 0.6 (0.3 to 0.9) for individuals with short, intermediate, and long alleles, respectively. Total hip Z scores were 0.4 (0.2 to 0.6), 0.4 (0.2 to 0.6), and 0.8 (0.5 to 1.0), respectively. Longer CYP19 alleles were also associated with higher free estradiol index. These results suggest that common variations in CYP19-aromatase gene may have an important influence on the maintenance of male skeleton after peak bone mass is reached.

Adult↗
PubMed2004

Endothelial nitric oxide synthase and methylenetetrahydrofolate reductase gene polymorphisms are associated with endothelial dysfunction in young, healthy men.

BACKGROUND: The guanine to thymine polymorphism at position 894 of the eNOS gene (resulting in a change from glutamate to aspartate [Asp] at codon 298 [Asp298]) and the methylenetetrahydrofolate reductase (MTHFR) gene polymorphism (C677T) have been reported to be associated with atherosclerosis and cardiovascular disease. Endothelial dysfunction is considered to be the earliest stage of atherosclerosis. OBJECTIVES: To examine whether common eNOS and MTHFR gene polymorphisms are associated with endothelial dysfunction in young, healthy men without overt cardiovascular disease. SUBJECTS AND METHODS: Flow-mediated, endothelium-dependent vasodilation (FMD) and glyceryl trinitrate-induced, endothelium-independent vasodilation (GTN) were measured using high-resolution ultrasound of the brachial artery in 53 young, healthy men assigned to eNOS and MTHFR genotypes. RESULTS: Subjects with the eNOS Asp298 allele (n=15) showed significantly reduced FMD:GTN compared with those without this allele (n=38) (0.23+/-0.13 [mean +/- SD] versus 0.35+/-0.14, P=0.0072), whereas there was no significant difference in GTN between these two groups. Although subjects with the MTHFR T677 allele did not show significantly reduced levels of FMD:GTN, subjects with the eNOS Asp298 allele and who were carriers of the MTHFR T677 allele demonstrated markedly reduced levels of FMD:GTN compared with noncarriers (0.14+/-0.05 versus 0.28+/-0.13, P=0.04). CONCLUSIONS: The data suggest that even in young men, the eNOS Asp298 allele may be involved in endothelial dysfunction before any overt vascular disease has occurred. Furthermore, a combination of the eNOS Asp298 and MTHFR T677 alleles may exaggerate endothelial dysfunction and may contribute to a comparatively earlier development of atherosclerosis.

Adult↗
PubMedDate not supplied

The DD genotype of the ACE gene polymorphism is associated with diabetic nephropathy in the type-1 diabetics.

Genetic factors are involved in the development of diabetic nephropathy in type-1 diabetes. We are examining the association of the angiotensin-converting enzyme (ACE), insertion/deletion (I/D) polymorphism with the presence of diabetic nephropathy in type-1 diabetic patients. 52 type-1 diabetic patients with diabetic nephropathy (30 with either microalbuminuria or macroalbuminuria and 22 with end stage renal disease on dialysis) were compared with 10 type-1 diabetic patients with normoalbuminuria and duration of disease longer than 15 years and 27 non-diabetic healthy subjects. We found that the D-allele frequency was higher in patients with nephropathy than in the healthy and normoalbuminuric controls. There was an association in the DD polymorphism of the ACE gene with patients with diabetic nephropathy and not with the control subjects. We conclude that the DD genotype of ACE gene polymorphism is associated with diabetic nephropathy in patients with type-1 diabetes mellitus.

Adult↗
PubMed2000

A role of angiotensin-converting enzyme gene polymorphism in left ventricular remodeling after myocardial infarction.

BACKGROUND: Left ventricular remodeling (LVR) process is one of the important secondary sequele after acute myocardial infarction (AMI). However, little is known about the relationship between LVR and angiotensin converting enzyme (ACE) gene polymorphism as well as endothelial nitric oxide synthase (ecNOS) gene polymorphism. METHODS: Coronary angiography and left ventriculography were performed within 24 hours and 30+/-7 days after AMI onset. All consecutive 24 patients (57+/-6 years) had acute anterior MI with one vessel disease of left anterior descending artery and successful revascularization therapy during acute phase. Patients were divided into three groups according to the change of end-diastolic volume index (EDVI)(Delta EDVI = EDVI 1 month-EDVI within 24 hrs); LVR(+) (Delta EDVI>7.0 ml/m(2), n = 5), LVR (-)(Delta EDVI<-7.0 ml/m(2), n = 13), and LVR (+/-)(-7.0<Delta EDVI<7.0 ml/m(2), n = 6) groups. The polymorphisms of ACE and ecNOS gene were determined with PCR method after an extraction of genomic DNA from peripheral leukocytes. RESULTS: There were no significant difference among three groups as to baseline characteristics, including coronary risk factors, medications, serum CPKmax and patency of infarct-related artery. The incidence of DD genotype of ACE gene is significantly higher in LVR (+) than in the other two groups (0.60; 0; 0, respectively, chi(2) = 13.150, p<0.01). The incidence of D allele of ACE gene is also significantly higher in LVR (+) than in the other two groups (0.70; 0.17; 0.19, respectively, chi(2) = 10.221, p<0.01). Delta EDVI of DD genotype was significantly greater than in the other two groups (DD genotype = 30.1+/-18.1; ID genotype = -13.0+/-27.4; II genotype = -8.2+/-11.5 ml/m(2), respectively, p<0.05). There was no significant difference in ecNOS gene polymorphism among three groups. By stepwise regression analysis, the significant independent predictors of Delta EDVI were EDVI within 24 hrs and DD genotype (F = 16.88 and 8.641, respectively, p = 0.0024). CONCLUSION: These results showed that left ventricular dilatation is related to DD genotype of ACE gene after successful reperfusion therapy of anterior AMI. Thus, renin-angiotensin system may play an important role in left ventricular remodeling after AMI.

Aged↗
PubMed2003

Office blood pressure, heart rate and A(-596)G interleukin-6 gene polymorphism in apparently healthy Czech middle-aged population.

The aim of the study was to assess the association between promoter polymorphism [A(-596)G] in interleukin-6 gene and office systolic and diastolic blood pressures, and the heart rate (HR) in apparently healthy Czech subjects. Furthermore, we evaluated the possible influence of gender, BMI and smoking on these supposed associations. An age-matched (40-50 years) and gender-matched (F/M=81/89) sample of apparently healthy Czech subjects (n=170, F/M=81/89) without hypertension, other cardiovascular diseases or diabetes was examined. The A(-596)G Il-6 gene polymorphism was detected by the PCR method. No differences in genotype distribution and/or allelic frequency was found between groups with lower systolic blood pressure (Ł 122 mm Hg) and higher systolic blood pressure (> 122 mm Hg). Similarly, no differences in the IL-6 polymorphism were found between lower (Ł 86 mm Hg) and higher (> 86 mm Hg) diastolic blood pressure groups. However, we proved a significant increase of genotypes AG+GG as well as the allele (-596)G in higher (>78 beats/min) heart rate group. The genotypes AG+GG represent significantly higher relative risk for higher HR frequency, especially in women. Among lean persons with a low heart rate frequency, fewer AG+GG genotypes were determined than among any other subjects. The genotypes AG+GG are more frequent in non-smoking persons with higher HR compared to non-smoking subjects with lower HR, especially in women. Gender, BMI and smoking substantially modify the distribution of A(-596)G Il-6 gene polymorphism in apparently healthy persons with lower or higher heart rate.

Adult↗
PubMed1998

Association between angiotensin II receptor gene polymorphism and serum angiotensin converting enzyme (SACE) activity in patients with sarcoidosis.

BACKGROUND: Serum angiotensin converting enzyme (SACE) is considered to reflect disease activity in sarcoidosis. SACE activity is increased in many patients with active sarcoid lesions. The mechanism for the increased SACE activity in this disease has not been clarified. ACE insertion/deletion (I/D) gene polymorphism has been reported to have an association with SACE levels in sarcoidosis, but no evidence of an association between angiotensin II receptor gene polymorphism and SACE in this disease has been found. A study of the association of angiotensin II receptor gene polymorphisms with sarcoidosis was therefore undertaken. METHODS: ACE (I/D), angiotensin II type 1 receptor (AGTR1), and angiotensin II type 2 receptor (AGTR2) gene polymorphisms were investigated by polymerase chain reaction (PCR) and SACE levels were measured in three groups of patients: those with sarcoidosis or tuberculosis and normal controls. RESULTS: There was no difference in allele frequency of AGTR1 and AGTR2 polymorphism among the three groups. Neither AGTR1 nor AGTR2 polymorphisms were associated with sarcoidosis. SACE activity was higher in patients with sarcoidosis with the AGTR1 A/C genotype than in others. However, this tendency was not detected in patients with tuberculosis. CONCLUSIONS: The AGTR1 allele C is associated with high activity of SACE in patients with sarcoidosis. It is another predisposing factor for high levels of SACE in patients with sarcoidosis and is considered to be an independent factor from the ACE D allele for high levels of SACE in sarcoidosis. This fact could be one of the explanations for the increased SACE activity in sarcoidosis.

Analysis of Variance↗
PubMed1996

Angiotensin-converting enzyme gene polymorphism is associated with carotid arterial wall thickness in non-insulin-dependent diabetic patients.

BACKGROUND: The insertion/deletion (I/D) polymorphism of the ACE gene has been shown to be associated with cardiovascular disease in healthy subjects as well as in patients with non-insulin-dependent diabetes mellitus (NIDDM). We investigated the relationship between the ACE gene polymorphism and the wall thickness of both carotid and femoral arteries in NIDDM patients. METHODS AND RESULTS: We measured the intimal plus medial thickness (IMT) of both carotid and femoral arteries using high-resolution B-mode ultrasonography in 288 Japanese NIDDM patients (160 men, 128 women). No significant differences among the three genotypes were found with respect to age, sex, duration of diabetes, body mass index, blood pressure, plasma glucose, hemoglobin AIC, total cholesterol, triglycerides, HDL cholesterol, or cigarette-years. Plasma ACE levels were strongly associated with I/D polymorphism, with an additive effect of the D alleles. The carotid IMT of the patients carrying the D allele (DD+ID genotype) was significantly higher than that of the patients not carrying the D allele (II genotype) (P = .037), whereas the femoral IMT was not affected by the I/D polymorphism. Multiple regression analysis demonstrated that the risk factors for carotid IMT of patients with NIDDM were age, non-HDL cholesterol, and D allele of the ACE gene (R2 = .155, P < .0001). CONCLUSIONS: The D allele of the ACE gene may be a risk factor for the development of wall thickening of the carotid but not the femoral artery in NIDDM patients.

Adolescent↗
PubMed2005

Lack of association between macrophage migration inhibitory factor gene polymorphism and giant cell arteritis.

OBJECTIVE: To investigate the role of macrophage migration inhibitory factor (MIF) gene polymorphism in giant cell arteritis (GCA). METHODS: Eighty-three patients with biopsy-proven GCA, 20 of them with visual ischemic complications, and 122 healthy matched controls from the Lugo region of Northwest Spain were studied. Patients and controls were genotyped for a single nucleotide polymorphism in the 5'-flanking region at position -173 of the MIF gene, using SNapshot ddNTP primer extension, followed by capillary electrophoresis (ABI 3100). RESULTS: No significant differences in MIF gene polymorphism were observed in patients with biopsy-proven GCA compared to controls. This was also the case when GCA patients with or without visual ischemic complications were compared. CONCLUSION: Polymorphism in MIF gene promoter -173 G/C does not appear to be a genetic risk factor for GCA in Northwest Spain.

Gene Frequency↗