|کد مقاله||کد نشریه||سال انتشار||مقاله انگلیسی||ترجمه فارسی||نسخه تمام متن|
|4931897||1363399||2018||8 صفحه PDF||سفارش دهید||دانلود کنید|
- First study of PTPRK gene with age at onset (AAO) of Alzheimer's disease (AD).
- Case-control study identified 6 SNPs for AAO (top SNP rs1891150, pÂ =Â 8.02Â ÃÂ 10â6).
- rs2326681 was associated with both AD risk and AAO (pÂ =Â 4.65Â ÃÂ 10â2 and 5.18Â ÃÂ 10â3).
- 4 SNPs associated with risk of cancer, 12 SNPs for LDL and 8 SNPs for total cholesterol.
- AD associated rs4895829 was associated with the gene expression level (pÂ =Â 7.3Â ÃÂ 10â5).
The human receptor-type protein-tyrosine phosphatase kappa (PTPRK) gene is highly expressed in human brain and was previously associated with an increased risk of neuropsychiatric disorders and cancer. This study investigated the association of 52 single nucleotide polymorphisms (SNPs) in PTPRK with the risk and age at onset (AAO) of Alzheimer's disease (AD) in 791 AD patients and 782 controls. Our data analysis showed that five SNPs (top SNP rs4895829 with pÂ =Â 0.0125) were associated with the risk of AD based on a multiple logistic regression (pÂ <Â 0.05); while six SNPs (top SNP rs1891150 with pÂ =Â 8.02Â ÃÂ 10â6) were associated with AAO by using a multiple linear regression analysis. Interestingly, rs2326681 was associated with both the risk and AAO of AD (pÂ =Â 4.65Â ÃÂ 10â2 and 5.18Â ÃÂ 10â3, respectively). In a replication study, the results from family-based association test - generalized estimating equation (GEE) statistics and Wilcoxon test showed that seven SNPs were associated with the risk of AD (top SNP rs11756545 with pÂ =Â 1.02Â ÃÂ 10â2) and 12 SNPs were associated with the AAO (top SNP rs11966128 with pÂ =Â 1.39Â ÃÂ 10â4), respectively. One additional sample showed that four SNPs were associated with risk of cancer (top SNP rs1339197 with pÂ =Â 4.1Â ÃÂ 10â3), 12 SNPs associated with LDL-cholesterol (top SNP rs4544930 with pÂ =Â 3.47Â ÃÂ 10â3), and eight SNPs associated with total cholesterol (top SNP rs1012049 with pÂ =Â 6.09Â ÃÂ 10â3). In addition, the AD associated rs4895829 was associated with the gene expression level in the cerebellum (pÂ =Â 7.3Â ÃÂ 10â5). The present study is the first study providing evidence of several genetic variants within the PTPRK gene associated with the risk and AAO of AD, risk of cancer, LDL and total cholesterol levels.
Journal: Journal of Psychiatric Research - Volume 96, January 2018, Pages 65-72