title: Genetic Variants in the Transcriptional Regulatory Region of the ALOX5AP gene and Susceptibility to Ischemic Stroke in Chinese Populations.
abstract: No coding sequence variants of the ALOX5AP gene that lead to amino acid substitutions have been identified. A two-stage study design was used to explore the relationship between variants in the transcriptional regulatory region of ALOX5AP gene and ischemic stroke (IS) risk in Chinese populations. IS was determined using CT and/or MRI. First, 18 SNPs, located in the upstream promoter region of ALOX5AP gene, were genotyped in 200 IS patients and 200 controls. And one potential associated SNP (rs17222919) was identified (P = 0.005,OR = 0.623, 95% CI: 0.448~0.866). Next, another independent case-control cohort comprising 810 IS patients and 825 matched controls was recruited to investigate the role of rs17222919, rs9579646 polymorphisms and their haplotypes in IS risk. The G allele frequency of rs17222919 in the IS group was significantly lower than that in control group (P = 0.007, OR = 0.792, 95% CI: 0.669~0.937). T-A and G-A haplotypes were associated with IS (P = 0.001,OR = 1.282, 95% CI:1.100~1.495; P = 0.0001, OR = 0.712, 95% CI: 0.598~0.848; respectively). Our study providesevidence that rs17222919 is a potential genetic protective factor against IS. Furthermore, the T-A haplotype is a risk factor and the G-A haplotype is a protective factor against IS in Chinese population.
authors.affiliation: School of life sciences of Zhengzhou University, Zhengzhou, 450052, China.
authors.forename: Dongzhi
authors.initials: D
authors.lastname: Yang
authors.affiliation: School of life sciences of Zhengzhou University, Zhengzhou, 450052, China.
authors.forename: Xiangnan
authors.initials: X
authors.lastname: Huang
authors.affiliation: Department of Neurology, The First People's Hospital of Zhengzhou, Zhengzhou, 450000, China.
authors.forename: Chuanju
authors.initials: C
authors.lastname: Cui
authors.affiliation: Department of Medical Genetics &Cell Biology, School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, 450052, China.
authors.forename: Yuchao
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Medical Genetics &Cell Biology, School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, 450052, China.
authors.forename: Ya
authors.initials: Y
authors.lastname: Li
authors.affiliation: School of life sciences of Zhengzhou University, Zhengzhou, 450052, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Zang
authors.affiliation: Department of Medical Genetics &Cell Biology, School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, 450052, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: He
authors.affiliation: Department of Medical Genetics &Cell Biology, School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, 450052, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Zheng
mesh_terms: D058927:5-Lipoxygenase-Activating Proteins / Q000235:genetics* / Q000378:metabolism; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D053263:Gene Regulatory Networks; D006239:Haplotypes; D006801:Humans; D007511:Ischemia / Q000208:ethnology / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012307:Risk Factors; D020521:Stroke / Q000208:ethnology / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: D058927:5-Lipoxygenase-Activating Proteins; C548592:ALOX5AP protein, human