Correlation between the single nucleotide polymorphisms of the human phosphodiesterase 4D gene and the risk of cerebral infarction in the Uygur and Han ethnic groups of Xinjiang, China

Ma,Jianhua; Sun,Qimeng; Zhang,Xiaoning; Du,Hebin

doi:10.3892/etm.2013.1370

Correlation between the single nucleotide polymorphisms of the human phosphodiesterase 4D gene and the risk of cerebral infarction in the Uygur and Han ethnic groups of Xinjiang, China

Authors:
- Jianhua Ma
- Qimeng Sun
- Xiaoning Zhang
- Hebin Du
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Affiliations: Department of Neurology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, P.R. China
Published online on: October 29, 2013 https://doi.org/10.3892/etm.2013.1370
Pages: 155-160

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Abstract

In this study, the correlation between the single nucleotide polymorphisms (SNPs) at rs2910829 and rs918592 in the phosphodiesterase 4D (PDE4D) gene and cerebral infarction in the Uygur and Han ethnic groups of Xinjiang, China were examined. The study population consisted of 373 Uygur and Han patients with cerebral infarction and 377 Uygur and Han control participants with no nervous system diseases. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and gene sequencing methods were used to assess the SNPs at the rs2910829 and rs918592 loci in the PDE4D gene. The differences in genotype and allele frequency distribution were compared between the two groups. The C allele frequency of the rs2910829 locus in the PDE4D gene of the cerebral infarction group (81.0%) was significantly higher than that of the control group (76.4%) (P<0.05). Furthermore, the A allele frequency of the rs918592 locus in the PDE4D gene in the Uygur cerebral infarction group was significantly higher than that of the Uygur control group (P<0.05). There were no significant differences in the genotype and allele frequency distributions between the Uygur and Han groups (P>0.05). The A allele of the rs918592 locus may be associated with the occurrence of cerebral infarction in the Uygur population. In addition, it was indicated that the C allele of the rs2910829 locus in the PDE4D gene confers susceptibility to cerebral infarction; however, no significant difference was identified between Uygur and Han patients with cerebral infarction.

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1	Feigin VL: Stroke epidemiology in the developing world. Lancet. 365:2160–2161. 2005. View Article : Google Scholar : PubMed/NCBI
2	Dichgans M: Genetics of ischemic stroke. Lancet Neurol. 6:149–161. 2007. View Article : Google Scholar
3	Traylor M, Farrall M, Holliday EG, et al: Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies. Lancet Neurol. 11:951–962. 2012. View Article : Google Scholar : PubMed/NCBI
4	Lanktree MB, Dichgans M and Hegele RA: Advances in genomic analysis of stroke: what have we learned and where are we headed? Stroke. 41:825–832. 2010. View Article : Google Scholar : PubMed/NCBI
5	Gottlieb DJ, O’Connor GT and Wilk JB: Genome-wide association of sleep and circadian phenotypes. BMC Med Genet. 8(Suppl 1): S92007. View Article : Google Scholar : PubMed/NCBI
6	Houslay MD and Adams DR: PDE4 cAMP phosphodiesterases: modular enzymes that orchestrate signalling cross-talk, desensitization and compartmentalization. Biochem J. 370:1–18. 2003. View Article : Google Scholar : PubMed/NCBI
7	Gretarsdottir S, Thorleifsson G, Reynisdottir ST, et al: The gene encoding phosphodiesterase 4D confers risk of ischemic stroke. Nat Genet. 35:131–138. 2003. View Article : Google Scholar : PubMed/NCBI
8	Wang JW, Tang X and Hu YH: The progress on genetic susceptibility to stroke. Zhonghua Ji Bing Kong Zhi Za Zhi. 14:451–455. 2010.(In Chinese).
9	Lövkvist H, Olsson S, Höglund P, et al: A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene. Eur J Hum Genet. 20:783–789. 2012.PubMed/NCBI
10	Matsushita T, Kubo M, Yonemoto K, et al: Lack of association between variations of PDE4D and ischemic stroke in the Japanese population. Stroke. 40:1245–1251. 2009. View Article : Google Scholar : PubMed/NCBI
11	Bevan S, Dichgans M, Gschwendtner A, et al: Variation in the PDE4D gene and ischemic stroke risk: a systematic review and meta-analysis on 5200 cases and 6600 controls. Stroke. 39:1966–1971. 2008. View Article : Google Scholar : PubMed/NCBI
12	Li WH: The main points of diagnosis of cerebral vascular disease. Zhonghua Shen Jing Ke Za Zhi. 29:379–380. 1996.(In Chinese).
13	Zhang H, Wang S and Li S: Correlation between phosphodiesterase 4D single nucleotide polymorphisms and stroke-related diseases. Zhongguo Wei Xun Huan. 13:624–627. 2009.(In Chinese).
14	Song Q, Cole JW, O’Connell JR, et al: Phosphodiesterase 4D polymorphisms and the risk of cerebral infarction in a biracial population: the Stroke Prevention in Young Women Study. Hum Mol Genet. 15:2468–2478. 2006. View Article : Google Scholar : PubMed/NCBI
15	Xu S, Zhang Y and Lin X: Relationship between phosphodiesterase 4D single nucleotide polymorphisms and ischemic cerebrovascular disease. J Clin Neurol. 21:249–252. 2008.
16	Tang J: Relationship between phosphodiesterase 4D single nucleotide polymorphism and cerebral infarction. Changsha: Central South University; 2007. pp. 24–26. 2007, (In Chinese).
17	He Y, Yang DZ, Yu H, et al: Genetic variants of phosphodiesterase 4D gene are associated with an enhanced risk for ischemic stroke in young Chinese population. Neurol India. 61:21–25. 2013. View Article : Google Scholar : PubMed/NCBI
18	Nakayama T, Asai S, Sato N and Soma M: Genotype and haplotype association study of the STRK1 region on 5q12 among Japanese: a case-control study. Stroke. 37:69–76. 2006. View Article : Google Scholar : PubMed/NCBI
19	Nilsson-Ardnor S, Wiklund PG, Lindgren P, et al: Linkage of ischemic stroke to the PDE4D region on 5q in a Swedish population. Stroke. 36:1666–1671. 2005. View Article : Google Scholar : PubMed/NCBI
20	Woo D, Kaushal R, Kissela B, et al: Association of Phosphodiesterase 4D with ischemic stroke: a population-based case-control study. Stroke. 37:371–376. 2006. View Article : Google Scholar : PubMed/NCBI
21	Munshi A, Roy S, Thangaraj K, et al: Association of SNP41, SNP56 and a novel SNP in PDE4D gene with stroke and its subtypes. Gene. 506:31–35. 2012. View Article : Google Scholar : PubMed/NCBI
22	Xu X, Li X, Li J, et al: Meta-analysis of association between variation in the PDE4D gene and ischemic cerebral infarction risk in Asian Populations. Neurogenetics. 11:327–333. 2010. View Article : Google Scholar : PubMed/NCBI