Search Results

1 - 10 of 337 items :

  • "single nucleotide polymorphisms" x
Clear All

Abstract

Several genetic loci in chromosomes 11 and 15 have recently been associated with non-syndromic autism spectrum disorder (ASD) in populations from North America and Europe. The aim of the present study was to investigate whether such an association exists in a Latvian population. Ninety-five patients with ASD in the age range 3–20 years (mean age 8 years, SD 3.18) participated in the study. The control group consisted of 161 healthy, non-related individuals without ASD randomly selected from the Latvian Genome Database. Four single nucleotide polymorphisms (SNPs) — rs11212733, SNP rs1394119, rs2421826, rs1454985 — were genotyped by the TaqMan method. Allele frequency differences between ASD patients and control subjects were compared for each SNP using a standard chi-square test with Bonferroni correction. The level of statistical significance was set at 0.05 for nominal association. Only the genetic marker rs11212733, localised on the long arm of chromosome 11 in locus 22.3, was found to be strongly associated with the ASD patient group (χ2 6.982, Padjusted 0.033, odds ratio 1.625). Our data demonstrating a significant relationship between the SNP rs11212733 and the development of ASD in a Latvian population suggest that it is not a population-specific relationship. Thus, future studies focusing on the DDX10 gene and related genetic loci are needed.

References 1. McMillan R. Chronic idiopathic thrombocytopenic purpura. N Eng J Med. 1981; 304: 1135. 2. Cines DB, Blanchette VS. Immune thrombocytopenic purpura. N Eng J Med. 2002; 346: 995-1008. 3. Satoh T, Pandey JP, Okazaki Y et al. Single nucleotide polymorphisms of the inflammatory cytokine genes in adults with chronic immune thrombocytopenic purpura. Br J Haematol. 2004; 124: 796-801. 4. Foster CB, et al. Polymorphisms in inflammatory cytokines and Fcγ receptors in childhood chronic immune thrombocytopenic purpura: a pilot study. Br J Haematol. 2001; 1134

BF, Merino G, Kim RB. Poly-morphisms in OATP-C: Identification of multiple allelic variants associated with altered transport activity among European- and African- Americans. J Biol Chem. 2001; 276(38): 35669-35675. 13. Pasanen MK, Backman JT, Neuvonen PJ, Niemi M. Frequencies of single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide 1B1 SLCO1B1 gene in a Finnish population. Eur J Clin Pharmacol. 2006; 62(6): 409-415. 14. Maeda K, Ieiri I, Yasuda K, Fujino A, Fujiwara H, Otsubo K, et al. Effects of organic anion transporting

and thrombosis in acute ischaemic heart disease. European Heart Journal: Acute Cardiovascular Care 2012; 1: 60–74. 7. Hosin AA, Prasad A, Viiri LE, Davies AH, Shalhoub J. MicroRNAs in atherosclerosis. Journal of Vascular Research 2014; 51: 338–49. 8. Saadatian Z, Masotti A, Fam ZNS, Alipoor B, Bastami M, Ghaedi H. Single-nucleotide polymorphisms within micrornas sequences and their 3’utr target sites may regulate gene expression in gastrointestinal tract cancers. Iranian Red Crescent Medical Journal 2014; 16: 2261–7. 9. Andreou I, Sun X, Stone PH, Edelman ER

nicotine-dependence may affect the development of COPD. In addition, nicotine-dependence can be considered as the most significant factor for smoking cessation [ 4 ]. Nicotinic acetylcholine receptors, or nAChRs, are receptor polypeptides that respond to the neurotransmitter acetylcholine [ 5 ]. Nicotine, a major component of tobacco, is the main cause of tobacco addiction that acts through nAChRs. At present, genome-wide association studies have proved that several single nucleotide polymorphisms (SNPs) (rs1051730, rs16969968, rs8034191 and rs4950) in two nAChRs ( CHRNA

individualized dosage is required to achieve optimum C 0 levels. A major factor affecting dosage variations is genetic polymorphisms of the cytochrome P450 (CYP) enzymes. CYP3A5 is a major isoform responsible for the metabolism of tacrolimus. Many reports have indicated that the interindividual variations seen in pharmacokinetics of tacrolimus were from CYP3A5 single nucleotide polymorphism [ 4 , 5 , 6 , 7 ]. CYP3A5 accounts for approximately 10% of CYP enzymes in the liver. It is also expressed in extrahepatic tissues, such as kidneys, lungs, and prostate glands [ 8 ]. A

Abstract

The changes in cognitive functions that occur with aging and in various pathological conditions are a subject of growing interest. Experimental and clinical data justify the hypothesis about the influence the immune system exerts on cognitive processes. The balance between pro-inflammatory and anti-inflammatory cytokines has been established as a necessary factor for normal cognitive functioning. Cytokine production is under strong genetic control and various single nucleotide polymorphisms (SNPs) in cytokine genes have been described. As cytokine SNPs have been demonstrated to affect the gene expression or the functional activity of the immune protein this logically led to the suggestion about the role of these polymorphisms in cognitive functioning. Studies exploring the association between different genetic variants of cytokine gene polymorphisms and cognitive abilities in healthy subjects and in demented patients show divergent results. The review of relevant literature suggests that SNPs implement their effect on cognition in large interactions with each other, as well as with many other factors, some of which still remain to be identified. This article summarizes the contemporary knowledge about the correlations between SNPs in cytokine genes and cognitive status in humans. Further research is needed to determine the precise role and the molecular mechanisms of action of the SNPs in cognitive processes.

References A chere , V., P. F aivre R ampant , L. E. P aques and D. P rat (2004): Chloroplast and mitochondrial molecular tests identify European x Japanese larch hybrids. Theoretical Applied Genetics 108 : 1643–1649. A itken , N., S. S mith , C. S chwarz and P. A. M orins (2004): Single nucleotide polymorphism (SNP) discovery in mammals: a targeted-gene approach. Molecular Ecology 13 : 1423–1431. B atley , J., R. M ogg , D. E dwards , H. O’S ullivan and K. J. E dwards (2003): A high-throughput SNuPE assay for genotyping SNPs in the flanking regions of

Summary

Atrial fibrillation (AF) is the commonest type of arrhythmia seen in everyday clinical practice, which leads to a significant increase in both morbidity and mortality. Its incidence increases with age and tends to turn into an epidemic. The cause of AF in 10-20% of cases remains unknown. Several mutations and polymorphism that might be responsible for the development of AF have been found, including single nucleotide polymorphisms (SNPs) - rs2200733 and rs10033464 in the long arm of the fourth chromosome. These polymorphisms are selected o the basis of genome- wide association study in Iceland from 2007, the results from which were later confirmed in 4 other large populations. The rs2200733 is a common noncoding polymorphism, described in National Center for Biotechnology Information (NCBI) database dbSNP like NC_000004.12:g.110789013C>T, with a frequency of the less common allele between 0.1 and 0.24. In order to investigate the association between the rs2200733 polymorphism in chromosome 4q25 and the development of AF, we studied the frequency of this polymorphism in patients with heart diseases from the Pleven region, and thus evaluate the relationship between the individual genotype and the clinical condition of the patients. We carried out a case-control study on 80 patients: 40 with AF and 40 without AF- from the Pleven region. None of these had structural heart disease. The study was conducted between November 2015 and November 2017. With deoxyribonucleic acid (DNA) analysis, we determined rs2200733 polymorphism, using a TaqMan-based polymerase chain reaction (PCR). The Cochran-Armitage trend test, the Chi-Squared Pearson correlation, Fisher test we used confirmed the statistically significant association between the rs2200733 polymorphism in chromosome 4q25 and the development of AF. In the population examined, the genotypic frequencies were as follows: CC - 45 (56.2%), CT - 19 (23.8%), TT - 16 (20%), with value of Chi-Square (χ2) 24.496, df=2, p<0.001. Screening for SNPs could be a useful marker for the detection of patients predisposed to AF.

(5): 703-711. 5. Sivakumaran S, Agakov F, Theodoratou E, Prendergast JG, Zgaga L, Manolio T, et al. Abundant pleiotropy in human complex diseases and traits. Am J Hum Genet. 2011; 89(5): 607-618. 6. Aston KI, Krausz C, Laface I, Ruiz-Castane E, Carrell DT. Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. Hum Reprod. 2010; 25(6): 1383-1397. 7. Plaseski T, Noveski P, Popeska Z, Efremov GD, Plaseska-Karanfilska D. Association study of single-nucleotide polymorphisms in FASLG, JMJDIA