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PubMed1997

Serotonin2A receptor gene polymorphism in mood disorders.

Genes that regulate the serotonin (5-HT) system including 5-HT receptors may be involved in mood disorders. We studied 5-HT2A receptor exons and the adjacent intron regions in 102 patients with mood disorders (71 depressive disorders and 31 bipolar disorders). In 34 mood disorder cases, the gene encoding the 5-HT1A receptor had been sequenced, but no disease-specific polymorphism was found. The substitution of C for T at position 102 in exon 1, which had been reported by Warren et al., was confirmed. The corresponding amino acid, serine, did not change. The allele frequency of C [corrected] at position 102 was significantly higher in patients with depressive disorders than in those with bipolar disorders and healthy control subjects. Furthermore, the mean age of onset in the patients heterozyous for the T and C alleles was lower than that in those homozygous for the C allele. No other polymorphism in the gene was found.

Adolescent↗
PubMed2004

Frequency of angiotensin-converting enzyme gene polymorphism in Turkish hypertensive patients.

Hypertension is a multifactorial disease, in which genetic factors play an important role. This study was carried out to determine angiotensin-converting enzyme levels and angiotensin-converting enzyme gene polymorphism in Turkish hypertensive patients, and to establish whether there is an association of angiotensin-converting enzyme gene polymorphism with clinical and echocardiographic parameters. We have investigated the association among the allelic distribution of the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme gene identified by polymerase chain reaction, angiotensin-converting enzyme activity determined spectrophotometrically, cardiac morphology and function assessed by means of echocardiography. Distribution of angiotensin-converting enzyme gene I/D polymorphism and allele frequencies in hypertensive patients was not significantly different from controls. D allele frequency was 51.7% in hypertensives vs. 51.9% in controls and I allele 48.3 vs. 48.1%, respectively. The level of angiotensin-converting enzyme activity was significantly higher in the patients homozygotes for D allele (DD = 59.93 U/l) than in heterozygotes (ID = 39.49) and in homozygotes for I allele (II = 40.28 U/l). In addition to these, the level of angiotensin-converting enzyme activity was significantly lower in the ID and especially II patients receiving ACE inhibitors than the others. Also, it was determined that left atrium diameter was larger in the patients homozygotes for I allele than the others.

Analysis of Variance↗
PubMed2003

Transforming growth factor-beta1 gene polymorphisms are associated with disease progression in idiopathic pulmonary fibrosis.

Transforming growth factor-beta1 (TGF-beta1) is a cytokine that plays a key role in the development of idiopathic pulmonary fibrosis. There have been reports on the presence of two genetic polymorphisms in the DNA sequence encoding the leader sequence of the TGF-beta1 protein, located in codons 10 and 25. The objective of this study was to investigate the association between TGF-beta1 gene polymorphisms in codons 10 and 25 and the susceptibility to idiopathic pulmonary fibrosis and the progression of the disease. Compared with healthy control subjects (n = 140), patients with idiopathic pulmonary fibrosis (n = 128) showed no significant deviations in genotype or allele frequencies. One hundred and ten patients with idiopathic pulmonary fibrosis were followed up for 30.3 +/- 25 months. The presence of a proline allele at codon 10 was independently associated with a significant increase in alveolar arterial oxygen tension difference during follow-up, after controlling for the effect of treatment (coefficient = 0.59; 95% confidence intervals, 0.23 to 0.96; p = 0.002). These findings suggest that (1) TGF-beta1 gene polymorphisms in codons 10 and 25 do not predispose to the development of idiopathic pulmonary fibrosis; and (2) TGF-beta1 gene polymorphisms may affect disease progression in patients with idiopathic pulmonary fibrosis.

Adult↗
PubMedDate not supplied

HLA-DRB1, -DQA1, and -DQB1 subtypes or ACE gene polymorphisms do not seem to be risk markers for severe retinopathy in younger Type 1 diabetic patients.

The aim of this study was to test the hypothesis that HLA-DRB1, -DQA1, and -DQB1 subgroups or angiotensin-converting enzyme (ACE) gene polymorphisms are associated with severe retinopathy in younger Type 1 diabetic patients. Twenty-four Type 1 diabetic patients who had received panretinal photocoagulation for severe nonproliferative or proliferative diabetic retinopathy were compared with 24 Type 1 diabetic patients (participating in a photographic screening program with regular fundus examinations) with no or minimal retinopathy, matched for age at onset and duration of diabetes. The HLA-DRB1-DQA1-B1 haplotype 04-03-0302 represented 22/48 (46%) in the severe and 21/48 (44%) in the no/minimal retinopathy group, respectively (n.s.). The most common genotype, 03-0501-0201/04-03-0302, occurred in 8/24 (33%) with severe and 10/24 (42%) with no/minimal retinopathy, respectively (n.s.). There were no statistical differences between patients with severe and no/minimal retinopathy whether DRB1, DQA1, or DQB1 alleles, haplotypes, or genotypes were analysed. The ACE gene polymorphism was almost identical between patients with severe and no/minimal retinopathy, and serum ACE levels did not differ. Thus, in the present study on a small group with carefully characterised diabetic retinopathy phenotypes, there was no indication that HLA-DRB1, -DQA1, and -DQB1 subtypes or ACE gene polymorphisms were associated with severe retinopathy in younger Type 1 diabetic patients.

Adult↗
PubMed2002

A prospective evaluation of the CD14 and CD18 gene polymorphisms and risk of stroke.

BACKGROUND AND PURPOSE: Genetic polymorphisms of the CD14 lipopolysaccharide receptor gene (CD14) and the CD18 leukocyte adhesion molecule gene (CD18) have recently been hypothesized to be risk factors for atherothrombosis. However, no prospective data on subsequent risk of stroke are available. The present investigation was conducted to examine the possible association between the CD14 C(-260)T and CD18 codon 441 gene polymorphisms and the incidence of stroke in a large, prospective, matched case-control sample from the Physicians' Health Study. METHODS: In the Physicians' Health Study, 14 916 apparently healthy men were followed over a 12-year period for stroke. Using a nested case-control study design, 338 study participants who developed stroke (cases) and 338 age- and smoking-matched study participants who remained free of reported disease during follow-up (controls) were evaluated. Both polymorphisms were determined by polymerase chain reaction with subsequent and respective restriction fragment length polymorphism gel electrophoresis. RESULTS: All observed genotype frequencies were in Hardy-Weinberg equilibrium. The allele and genotype distributions of the polymorphisms tested were similar among cases and controls, such that the relative risk of future stroke was 0.87 for CD14 C(-260)T (95% CI=0.69 to 1.11; P=0.27) and 0.99 for CD18 codon 441 (95% CI=0.77 to 1.28; P=0.96) assuming an additive mode of inheritance. No evidence of association was observed assuming dominant or recessive model, and similar null results were observed in subgroup analysis restricted to thromboembolic events CONCLUSIONS: In this large, prospective study, we found little evidence that the two previously described polymorphisms in the CD14 and CD18 genes are associated with risks of future stroke.

Adult↗
PubMed1996

Measuring selective effects of modifier gene polymorphisms on the Bare locus of Drosophila subobscura.

An attempt to quantify the effects of modifier gene polymorphisms on the operation of natural selection on a major locus has been carried out. The modifier system we have investigated is constituted by a set of polygenic modifier loci affecting the morphological expression of the Bare (Ba) bristle mutant of Drosophila subobscura. Ba is a dominant mutant that is lethal in homozygous condition and both the polygenic modifiers and Ba are located on the O chromosome of this species. Experimental populations were found with Ba/+ individuals and two different types of populations were started according to their modifier genetic background: populations with wild O chromosomes of either high or low modifier effect (cages H and L, respectively). Fitness estimates (total fitness, viability and fertility) for genotypes of the Ba locus were obtained under the two different modifier backgrounds. In the populations with high modifier background the total fitness of the Ba/+ heterozygote was very similar to that of the +/+ homozygote (fitness equal to 1). However, in cages with low modifier background a strong selection against the Ba/+ heterozygote was detected (average of total fitnesses over generations was 0.66 +/- 0.10), and fertility appears to be the fitness component responsible for this effect (mean fertility was 0.55 +/- 0.08). These findings demonstrate that modifier gene polymorphisms affecting the expression of the Ba mutant may be associated with large selective effects on the major locus.

Animals↗
PubMed2001

[Relationship between gene polymorphism at the apolipoprotein E locus and serum lipid profile in urban children of school age in Beijing].

OBJECTIVE: To study the relationship between gene polymorphism at the apolipoprotein E (ApoE) locus and serum lipid levels in children of school age. METHODS: Blood samples were collected from 307 normal children aged 7 to 11 years, including 150 boys and 157 girls, and their serum lipid profile, including total cholesterol (TC), triglyceride (TG), low-density lipoprotein-cholesterol (LDL-C), high-density lipoprotein-cholesterol (HDL-C), apolipoprotein B(apoB), apoprotein A1 (ApoA I) and lipoptoein alpha[LP (alpha)], were detected and their ApoE-Hha I gene polymorphism were tested by the PCR-RFLP method. RESULTS: The detection rates for the most frequent genotype ApoE3/3 was 54.7%, other genotypes E4/3, E4/4, E3/2, E4/2 and E2/2 were 23.8%, 9.1%, 8.1%, 3.9% and 0.3%, respectively, in 307 children, with no significant difference between girls and boys(P > 0.05). Frequency of the often seen allele E3 was 70.7%, and that of E4 and E2 was 23.0% and 6.4, respectively, with E4 significantly higher than and E2 similar to that in the other domestic reports. The levels of TC, LDL-C, ApoA I and ApoB were higher in boys with genotypes E4/3 and E3/3 than those with genotypes E3/2 and E4/2. Levels of TC and ApoA I in the boys with genotype E3/2 were higher, with TC of 4.28 mmol/L and ApoA I of 3.41 mmol/L. There were no significant difference in serum lipid levels of girls with different genotypes(P > 0.05). There also was no significant difference in the ApoE-Hha I genotype distribution between normal children and those with high TC. ApoE2 could decrease the level of TC by 0.377 mmol/L, and LDL-C by 0.329 mmol/L. CONCLUSIONS: Serum level of TC associated with polymorphism of ApoE gene carrier in boys, with the lowest levels of TC, LDL-C and ApoE in three with allele E2.

Apolipoprotein A-I↗
PubMed2000

Interleukin-6 gene polymorphism and lipid abnormalities in healthy subjects.

Several lines of evidence indicate that interleukin-6 (IL-6) is involved not only in the hepatic acute phase response but also in adipose tissue metabolism, lipoprotein lipase activity, and hepatic triglyceride secretion. A polymorphism in the IL-6 gene, associated with differences in IL-6 transcription rate, has been recently described. We aimed to study whether this IL-6 gene polymorphism leads to differences in fasting and postglucose load plasma lipids in healthy subjects. Subjects with G at position -174 of the IL-6 gene were similar in age, sex, body mass index, and waist to hip ratio in comparison with carriers of the C allele. However, G carriers showed almost twice plasma triglycerides (1.5 +/- 0.9 vs. 0.90 +/- 0.37 mmol/L; P = 0.01), very low-density lipoprotein (VLDL)-triglycerides (0.97 +/- 0.69 vs. 0.42 +/- 0.2 mmol/L; P = 0.002), higher fasting (881 vs. 458 micromol/L; P = 0.01), and postglucose load free fatty acids (299 vs. 90.5 micromol/L; P = 0.03), slightly lower high-density lipoprotein-2 cholesterol (0.25 +/- 0.14 vs. 0.39 +/- 0.26 mmol/L; P = 0.058), and similar cholesterol and LDL-cholesterol levels than carriers of the C allele. Serum IL-6 levels correlated positively with fasting triglycerides, VLDL-triglycerides, and postload free fatty acids (r = 0.61, 0.65 and 0.60, respectively; P < 0.001) and negatively with high-density lipoprotein-cholesterol (r = -0.42, P < 0.05). A tendency toward higher serum IL-6 levels was observed among G carriers (9.9 +/- 6.9 vs. 6.85 +/- 1.7 pg/mL; P = 0.09). The -174G construct was recently reported to show higher expression of IL-6 in He La cells and was associated with higher plasma IL-6 levels than the -174C allele. Thus, the results of the present study suggest that subjects with the G allele, associated to higher IL-6 secretion, are prone to lipid abnormalities. Whether this polymorphism contributes to lipid alterations associated with other metabolic disorders awaits additional studies.

Adult↗
PubMed2006

Analysis of tumor necrosis factor-alpha, transforming growth factor-beta, interleukin-10, IL-6, and interferon-gamma gene polymorphisms in patients with chronic periodontitis.

BACKGROUND: Cytokine gene polymorphisms may have an impact on the susceptibility to and progression of chronic periodontitis. In this study, we analyzed the -1082 interleukin-10 (IL-10), -308 tumor necrosis factor-alpha (TNF-alpha), transforming growth factor-beta 1 (TGF-beta1) (codons 10 and 25), -174IL-6, and +874 interferon-gamma (IFN-gamma) gene single-nucleotide polymorphisms in a cohort of patients with chronic periodontal disease. METHODS: The diagnosis was made on the basis of standardized clinical and radiographic criteria. A total of 122 adult patients with chronic periodontitis and 114 unrelated, ethnically and age-matched white control subjects were genotyped by a polymerase chain reaction-sequence-specific primer. RESULTS: The number of individuals carrying the -174IL-6 CC genotype was significantly higher in the group of patients than in the control group (odds ratio [OR] = 1.896; 95% confidence interval [CI] = 1.106 to 3.250; P = 0.0283). The TGF-beta1 (codon 25) GG (Arg(25)/Arg(25)) genotype was detected more frequently in control subjects than in periodontitis patients (OR = 0.459; 95% CI = 0.230 to 0.920; P = 0.0421). CONCLUSION: The -174IL-6 and TGF-beta1 (codon 25) single-nucleotide polymorphisms are associated with susceptibility to chronic periodontitis in the population studied.

Adult↗
PubMed1993

Type I interferon genes in cattle: restriction fragment length polymorphisms, gene numbers and physical organization on bovine chromosome 8.

Multiple, superimposed Type I interferon (IFN) restriction fragments were resolved following 72-92 h of horizontal electrophoresis. Restriction fragment length polymorphisms (RFLPs) for alpha IFN (IFNA), beta IFN (IFNB), omega IFN (IFNW) and trophoblast IFN (IFNT) genes were identified in HindIII, EcoRI and TaqI digestions from 313 cattle. RFLPs with codominant segregation in cattle pedigrees were considered alleles, and 19 distinct polymorphic Type I IFN loci (5 IFNA, 4 IFNB, 8 IFNW and 2 IFNT) were identified. Allele frequencies and observed heterozygosity values were calculated for each locus and several loci were considered highly informative for linkage analysis. Bovine IFN gene numbers (10 IFNA, 6 IFNB, 20 IFNW and 6 IFNT) were estimated from the number of polymorphic loci plus additional monomorphic hybridizing bands present in EcoRI and HindIII digestions. Physical linkage of the Type I IFN gene families on bovine chromosome 8 was demonstrated by pulsed field gel electrophoresis (PFGE). Hybridization of two or more IFN probes to similarly sized PFGE fragments suggested the tentative gene family order: IFNA/IFNW-IFNT-IFNB. These studies provide a basis for the development of more detailed genetic and physical maps of the bovine Type I IFNs.

Alleles↗
PubMedDate not supplied

Haemostatic gene polymorphisms in venous and arterial thrombosis.

Haemostatic gene polymorphisms are potential risk factors for thrombosis. Considerable attention has been focussed on identifying risk alleles. Progress has undoubtedly been made in venous thrombosis. Factor V Leiden and the prothrombin G20210A substitution are now established risk factors, and a number of other polymorphisms are candidates. The initial promise that genetic risk factors might contribute appreciably to an explanation of the development of arterial thrombotic disorders has largely been unfulfilled and the expectations raised by early reports of positive associations have been tempered by inconsistent results with almost all genes studied. The problems seen in arterial disease are replicated in investigations of other complex diseases. In the optimistic rush to show positive associations of genetic factors with diseases, sight has been lost of the need for stringent study design. Furthermore, the scale of studies needed to produce reproducible conclusions has been underestimated. The lessons learnt from accumulated experience should now enable progress to be made.

Arterial Occlusive Diseases↗
PubMed2002

The T allele of the missense Glu(298)Asp endothelial nitric oxide synthase gene polymorphism is associated with coronary heart disease in younger individuals with high atherosclerotic risk profile.

AIMS: Nitric oxide (NO) plays a protective role during atherogenesis. In the endothelium, NO is synthesised by the constitutive NO synthase (ecNOS). We analysed the relation of the ecNOS Glu(298)Asp and 4a/b gene polymorphisms to coronary artery disease (CAD) and myocardial infarction (MI) in a population of 3250 German subjects (533 healthy controls and 2717 individuals who underwent coronary angiography). RESULTS: Although in the total sample, the ecNOS T allele was not associated with the risk of CAD (P=0.054) and the extent of this disease (P=0.078), a restriction to younger individuals (age</=61, mean age) revealed an association of the ecNOS T allele with an increased risk of CAD (1.43, 1.05-1.96; P=0.025) and with the severity of this disease (P=0.037). Similar observations were made in various high-risk populations. These associations were even more pronounced when the high-risk subgroups were restricted to younger individuals. For example, an odds ratio of 7.66 for CAD (95% CI, 2.0-29; P=0.003) was detected in diabetic individuals who were younger than 61 years. Also with respect to MI, the most pronounced associations of the ecNOS T allele with the risk of this disease were detected in younger individuals with at least one other cardiovascular risk factor. For example, in diabetics younger than 61 years, the relative risk for ecNOS T allele carriers was 9.73 (95% CI, 1.8-53; P=0.008). In contrast, the allele frequencies of the ecNOS 4a/b gene variation were essentially the same in controls and in CAD and MI patients. CONCLUSION: The present data extends earlier observations by the findings that predominantly younger T allele carriers of the ecNOS Glu(298)Asp gene polymorphism with various coronary high-risk profiles had an increased risk to suffer CAD and/or MI. In contrast, no evidence was found for an association of the ecNOS 4a/b gene polymorphism with coronary heart disease.

Age Factors↗
PubMed2006

[Melanin traits of Yunnan black bone sheep and TYR gene polymorphism].

The "black bone and muscle" is cardinal melanin trait of black bone sheep. The black bone sheep and the native sheep in Lanping and Luomuni sheep were chosen as materials for the measurement of TYR activity of blood and melanin content of tissues and organs. Moreover, we compared characteristic structure of melanin of black bone sheep with silky fowls. The results showed as follows: TYR activity was significantly different between black and non-black bone sheep (P<0.05); the total character of infrared spectrum (IR) of melanin of black bone sheep resembled silky fowls; and melanin was eumelanin. We firstly cloned exon1 667bp sequence of TYR gene and determined TYR gene polymorphism of black and non-black bone sheep by PCR-RFLP. Compared with sequence of TYR gene of non-black bone sheep, there were two nucleotide mutation sites in exon1 of black bone sheep, located in No.64 and No.154 amino acid codons, respectively; but they were synonymics mutation. We designed restriction site in codon 64 and check up TYR gene polymorphism. The result showed the mutation site together with the close linked gene influenced melanin trait deposition. It suggests there should be functional mutation related with melanin trait. Furthermore, there was significant correlation between TYR gene polymorphism and coat color of sheep (P<0.01), indicating TYR could influence synthesis of coat color of sheep.

Animals↗
PubMed2003

Screening of homologous recombination gene polymorphisms in lung cancer patients reveals an association of the NBS1-185Gln variant and p53 gene mutations.

Carcinogens present in tobacco smoke lead to several types of DNA damage in bronchial cells. In lung cancer, karyotype, allelotype, and fluorescence in situ hybridization analyses have demonstrated the common presence of aneuploidy, although its severity varies considerably among tumors. Deficiencies in the DNA-double strand break (DSB) repair system may be critical in the generation and persistence of chromosomal gains or losses during lung tumorigenesis. Therefore, we examined whether specific DSB repair gene polymorphisms were associated with an increase in tobacco-induced DNA damage, including gene mutations (p53 and KRAS) and chromosomal alterations. Nonsynonymous polymorphisms with a frequency higher that 0.1 at the XRCC3, NBS1, and BRCA2 genes were selected for the study. A PCR-RFLP analysis was performed to identify the Met241Thr, Glu185Gln, and Asn372His polymorphisms in the XRCC3, NBS1, and BRCA2 genes, respectively, in 109 lung cancer patients. Interestingly, the prevalence of p53 mutations was significantly greater among individual homozygous for the NBS1-185Gln allele (8 of 8, 100%) than among individuals for the wild-type allele (24 of 52, 46%). This increase in p53 mutation frequency was largely attributable to an increased prevalence of G-->T or C-->A transversions among these patients (P < 0.001). In addition, the association between this type of mutation and the NBS1-185Gln allele remained statistically significant after adjusting for age, smoking, and histological cell-type (odds ratio = 3.42 for heterozygous and odds ratio = 38.3 for NBS1-185Gln homozygous). Germ-line variants in the NBS1 gene may play a role in the lung carcinogenesis in cigarette smokers.

Adult↗
PubMed2001

ACE gene polymorphism and IgA nephropathy: an ethnically homogeneous study and a meta-analysis.

BACKGROUND: Conflicting results have implicated the angiotensin-converting enzyme (ACE) D allele in the progression of renal damage in patients with IgA nephropathy (IgAN). Most of these findings have been obtained by heterogeneous studies. METHODS: We investigated the ACE insertion/deletion (I/D) gene polymorphism by polymerase chain reaction (PCR) amplification of genomic DNA in an ethnically homogeneous sample size of IgAN patients from Southern Italy. The association between ACE I/D gene polymorphism and the development of the disease was examined in 247 biopsy-proven IgAN patients and 205 healthy subjects. The association with the progression of renal damage was evaluated in 136 patients with a follow-up of > or =3 years according to the slope of the creatinine clearance against time, and in 221 patients with a follow-up of > or =1 year assessing by univariate and multivariate analyses of renal survival. These associations were further estimated in a meta-analysis of seven studies retrieved in the Medline database. The meta-analysis was performed according to the Mantel-Haenszel-Peto method when homogeneity of the studies was established using the chi(2) test by Breslow-Day. RESULTS: No difference in the ACE I/D gene distribution between patients and controls and between patients with stable and those with deteriorating renal function was found in our study. A meta-analysis performed separately for Caucasian and Asian studies showed that the ACE I/D gene polymorphism did not contribute to the genetic susceptibility of the development of IgAN (total OR 0.93, 95% CI, 0.71 to 1.23; and 0.95, 95% CI, 0.64 to 1.42, respectively) or the progression of the renal damage (total OR 1.12, 95% CI, 0.67 to 1.88; and 2.26, 95% CI, 0.75 to 6.79, respectively) in both groups. CONCLUSIONS: Our study and meta-analysis suggest caution in the interpretation of results from association studies enrolling heterogeneous populations. Further studies using new tests, which are free of the bias due to population stratification and ethnicity, are warranted.

Adolescent↗
PubMed1995

[Does an association between angiotensin I converting enzyme gene polymorphism and the prevalence of diabetic nephropathy in patients with diabetes type II exist?].

In type I diabetic patients association has been found between the insertion/deletion (I/D) polymorphism in the gene of angiotensin converting enzyme and the presence of diabetic nephropathy. The aim of that study was to assess this association in a cohort of type II diabetics. We examined 109 patients of more than 10 years duration of type II diabetes. Nephropathy (defined as at least confirmed albuminuria > 30 mg/24h) was present in 37 subjects. The I/D polymorphism was analyzed with PCR technique. Allele frequencies in the overall diabetic population did not differ significantly from the normal population. Distribution of genotypes was not significantly different between examined patients with and those without nephropathy. We conclude that the distribution of ACE gene polymorphism is similar in diabetic subjects and in general population and there is not association between I/D polymorphism and nephropathy in type II diabetic patients.

Aged↗
PubMed2003

[Association of platelet endothelial cell adhesion molecule-1 gene polymorphism with coronary heart disease].

OBJECTIVE: To investigate the association of Leu125Val and Ser563Asn polymorphism of the gene encoding platelet endothelial cell adhesion molecule-1(PECAM-1) with coronary heart disease. METHODS: This study included 156 patients with the diagnoses of coronary heart disease (CHD) and coronary lesions derived from electrocardiography, myocardial enzyme analysis and coronary angiography as the CHD group, and another 75 in-patients admitted within the same period who showed no signs of CHD in the above examinations constituted the control group. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was employed to examine the missense polymorphism of PECAM-1gene in the position of Leu125Val and Ser563Asn. RESULTS: There were significant differences between CHD and control group in terms of the allele frequencies and genotype distributions of PECAM-1 gene, and the differences were especially conspicuous in the allele frequencies of 125Val and 563Asn (P<0.05) and genotype distributions of 125Val/Val and 563Asn/Asn. CONCLUSION: PECAM-1 gene polymorphism 1 may be a genetic risk factor for coronary heart disease.

Coronary Disease↗
PubMed2006

Cytokine gene polymorphisms and high-resolution-computed tomography score in idiopathic pulmonary fibrosis.

INTRODUCTION: Idiopathic pulmonary fibrosis (IPF) is a serious disease with unknown cause and the influence of cytokine gene polymorphisms is presumed in the etiology and pathogenesis of the disease. We used high-resolution computed tomography (HRCT) as a marker of disease stage and progression and compared the alveolar and interstitial score with IL-1, IL-4, IL-12, IL-1RA and IL-4RA cytokine gene polymorphisms. SUBJECTS AND METHODS: The IPF patients were all Caucasians from the Czech Republic and consisted of 20 females and 10 males, with a mean age of 65 years, range 36-85. The HRCT results were evaluated by an experienced viewer using the interstitial and alveolar score scales, which were based on the IPF HRCT description system from Gay SE, Kazerooni EA, Tows GB, Lynch JP, Gross BH, Cascade PN, et al. [Idiopathic pulmonary fibrosis. Predicting response to therapy and survival. Am J Respir Crit Care Med 1998;157:1063-72]. We evaluated the polymorphisms of cytokine genes utilizing a PCR with sequence-specific primers method. RESULTS: The HRCT alveolar score was more pronounced in IL-4 RA (+1902) AG heterozygotes. The HRCT interstitial score was less severe in the IL-12 (-1188) AA homozygotes. According to progression of the HRCT interstitial score, the CC homozygosity at IL-1 RA (mspa 111100), the AA homozygosity at IL-4 RA (+1902) and CC homozygosity at IL-4(+33) positions were more frequent in patients with stable disease compared to those with progressive disease. CONCLUSIONS: We assume from our data that the polymorphisms of IL-4, IL-4RA, IL-1RA and IL-12 genes (genes of cytokines with regulatory activity) might influence the phenotype of IPF as shown by measurable changes in HRCT investigations.

Adult↗