title: Variants in ANRIL gene correlated with its expression contribute to myocardial infarction risk.
abstract: ANRIL (antisense non-coding RNA in the INK4 locus), located at the 9p21.3 locus, has been known to be closely associated with the risk of coronary artery disease (CAD). To date, studies of the 9p21.3 variants on CAD risk mainly focus on the non-coding region of ANRIL. However, the biological significance of the variants on ANRIL promoter and exons is still unknown. Here we investigate whether the variants on ANRIL promoter and exons have an effect on myocardial infarction (MI) risk, and further analyze the association of these variants with the expression of ANRIL transcript. We did not find any common variants with minor allele frequencies (MAF) larger than 5% in ANRIL promoter by sequencing 1.6kb upstream of the start codon. Unconditional logistic regression analysis revealed that two SNPs in ANRIL exons, rs10965215 and rs10738605, were significantly associated with MI risk. Further studies revealed that ANRIL transcript EU741058.1 expression levels of rs10965215 and rs10738605 risk genotypes were borderline lower than those of protective genotypes. Our data provide the evidence that the variants rs10965215 and rs10738605 in ANRIL exons contribute to MI risk in the Chinese Han population which might be correlated with the expression of its transcript EU741058.1.
authors.affiliation: Institute of Aging Research, Guangdong Medical University, Dongguan, P.R.China.|Department of clinical laboratory, The Affiliated Hospital of Guangdong Medical University, Zhanjiang, P.R.China.
authors.forename: Jie
authors.initials: J
authors.lastname: Cheng
authors.affiliation: Institute of Aging Research, Guangdong Medical University, Dongguan, P.R.China.|Guangdong Provincial Key Laboratory of Medical Molecular Diagnostics, Guangdong Medical University, Dongguan, P.R.China.
authors.forename: Meng-Yun
authors.initials: MY
authors.lastname: Cai
authors.affiliation: Institute of Aging Research, Guangdong Medical University, Dongguan, P.R.China.|Guangdong Provincial Key Laboratory of Medical Molecular Diagnostics, Guangdong Medical University, Dongguan, P.R.China.
authors.forename: Yu-Ning
authors.initials: YN
authors.lastname: Chen
authors.affiliation: Institute of Aging Research, Guangdong Medical University, Dongguan, P.R.China.|Guangdong Provincial Key Laboratory of Medical Molecular Diagnostics, Guangdong Medical University, Dongguan, P.R.China.
authors.forename: Zhi-Cheng
authors.initials: ZC
authors.lastname: Li
authors.affiliation: Institute of Aging Research, Guangdong Medical University, Dongguan, P.R.China.|Guangdong Provincial Key Laboratory of Medical Molecular Diagnostics, Guangdong Medical University, Dongguan, P.R.China.
authors.forename: Sai-Sai
authors.initials: SS
authors.lastname: Tang
authors.affiliation: Department of Cardiovascular Disease, The First People's Hospital of Foshan, Foshan, P.R.China.
authors.forename: Xi-Li
authors.initials: XL
authors.lastname: Yang
authors.affiliation: Department of Cardiovascular Disease, The Affiliated Hospital of Guangdong Medical University, Zhanjiang, P.R.China.
authors.forename: Can
authors.initials: C
authors.lastname: Chen
authors.affiliation: Institute of Aging Research, Guangdong Medical University, Dongguan, P.R.China.|Guangdong Provincial Key Laboratory of Medical Molecular Diagnostics, Guangdong Medical University, Dongguan, P.R.China.|Institute of Biochemistry & Molecular Biology, Guangdong Medical University, Zhanjiang, P.R.China.
authors.forename: Xinguang
authors.initials: X
authors.lastname: Liu
authors.affiliation: Institute of Aging Research, Guangdong Medical University, Dongguan, P.R.China.|Guangdong Provincial Key Laboratory of Medical Molecular Diagnostics, Guangdong Medical University, Dongguan, P.R.China.|Institute of Biochemistry & Molecular Biology, Guangdong Medical University, Zhanjiang, P.R.China.
authors.forename: Xing-Dong
authors.initials: XD
authors.lastname: Xiong
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D005260:Female; D015870:Gene Expression; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D062085:RNA, Long Noncoding / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D012307:Risk Factors
chemical_list: C561518:CDKN2B antisense RNA, human; D062085:RNA, Long Noncoding
keywords: ANRIL; Gerotarget; myocardial infarction; risk; single nucleotide polymorphism