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Association of Single Nucleotide Polymorphism in Chromosome 11 with Autism Spectrum Disorder

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.

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Single Nucleotide Polymorphisms of the Inflamatory Cytokine Genes: Interleukin-1B, Tumor Necrosis Factors-A and Tumor Necrosis Factor-B in Adult Patients with Immune / Thrombocytopenia Единечни Нуклеотидни Полиморфизми Во Цитокинските Гени: Интерлеукин-1Б, Тумор Некрозис Фактор-А И Тумор Некрозис Фактор-Б Кај Пациенти Со Имуна Тромбоцитопенија

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

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in PRILOZI
Frequencies of Single-Nucleotide Polymorphisms and Haplotypes of the SLCO1B1 Gene in Selected Populations of the Western Balkans

. 2002; 36(1): 164-172. 11. Pasanen MK, Neuvonen PJ, Niemi M. Global analysis of genetic variation in SLCO1B1. Pharmacogenomics. 2008; 9(1): 19-33. 12. Tirona RG, Leake 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

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Association of miR-149 (RS2292832) Variant with the Risk of Coronary Artery Disease

T, Vilahur G. Atherosclerosis, platelets 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

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Association of CYP3A5 and POR polymorphisms with the maintenance tacrolimus dosage requirement in Thai recipients of kidney transplants

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

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Diagnosis of interspecific hybrids between Acacia mangium and A. auriculiformis using single nucleotide polymorphism (SNP) markers

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

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A Role of Cytokine Gene Polymorphisms in Cognitive Functioning

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.

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Study of Three Single Nucleotide Polymorphisms in the Slc6a14 Gene in Association with Male Infertility

, Popeska Z, Efremov GD, Plaseska-Karanfilska D. Association study of single-nucleotide polymorphisms in FASLG, JMJDIA, LOC203413, TEX15, BRDT, OR2W3, INSR, and TAS2R38 genes with male infertility. J Androl. 2012; 33(4): 675-683. 8. Sloan JL, Mager S. Cloning and functional expression of a human Na+ and Cl--dependent neutral and cationic amino acid transporter B0+. J Biol Chem. 1999; 274(34): 23740-23745. 9. Suviolahti E, Oksanen LJ, Ohman M, Cantor RM, Ridderstrale M, Tuomi T, et al. The SLC6A14 gene shows evidence of association with

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A novel single nucleotide polymorphism of the POU1F1 gene associated with meat quality traits in rabbits

. Animal, 7: 518-523. Zhang G.W., Gao L., Chen S.Y., Zhao X.B., Tian Y.F., Wang X., Deng X.S,. Lai S.J. (2013). Single nucleotide polymorphisms in the FTOgene and their association with growth and meat quality traits in rabbits. Gene, 527: 553-557. Zhao Q., Davis M.E., Hines H.C. (2004). Associations of polymorphisms in the Pit-1 gene with growth and carcass traits in Angus beef cattle. J. Anim. Sci., 82: 2229-2233.

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Detection of single nucleotide polymorphisms at major prolificacy genes in the Mehraban sheep and association with litter size

sheep breeds. Vet. Res. Commun., 35: 157-167. Kumar S., Mishra A.K., Kolte A.P., Dash S.K., Karim S.A. (2008). Screening for Booroola (Fec B) and Galway (Fec XG) mutations in Indian sheep. Small Rumin. Res., 80: 57-61. Liandris E., Kominakis A., Andreadou M., Kapeoldassi K., Chadio S., Tsiligi-anni T.H., Gazouli M., Ikonomopoulos I. (2012). Associations between single nucleotide polymorphisms of GDF9 and BMP15 genes and litter size in two dairy sheep breeds of Greece. Small Rumin. Res., 107: 16-21. Liu S.F., Jiang Y

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