An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer’s disease in the Han Chinese population

Feng Zhang,1,2,* Xiaowei Liu,2,* Bailing Wang,3 Zaohuo Cheng,2 Xingfu Zhao,2 Jianzhong Zhu,2 Degang Wang,2 Ying Wang,2 Aiguo Dong,2 Pengpeng Li,2 Chunhui Jin21Mental Health Institute, The Second Xiangya Hospital, Central South University, Changsha, Hunan Province, 2Wuxi Mental Health Center of Nanji...

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Autores principales: Zhang F, Liu X, Wang B, Cheng Z, Zhao X, Zhu J, Wang D, Wang Y, Dong A, Li P, Jin C
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Publicado: Dove Medical Press 2015
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spelling oai:doaj.org-article:a1cf7d5245634862b4e4ac33c634907e2021-12-02T01:46:50ZAn exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer’s disease in the Han Chinese population1178-2021https://doaj.org/article/a1cf7d5245634862b4e4ac33c634907e2015-06-01T00:00:00Zhttp://www.dovepress.com/an-exploratory-study-of-the-association-between-sorl1-polymorphisms-an-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Feng Zhang,1,2,* Xiaowei Liu,2,* Bailing Wang,3 Zaohuo Cheng,2 Xingfu Zhao,2 Jianzhong Zhu,2 Degang Wang,2 Ying Wang,2 Aiguo Dong,2 Pengpeng Li,2 Chunhui Jin21Mental Health Institute, The Second Xiangya Hospital, Central South University, Changsha, Hunan Province, 2Wuxi Mental Health Center of Nanjing Medical University, Wuxi, Jiangsu Province, 3Qingdao Mental Health Center, Qingdao, Shandong Province, People’s Republic of China*These authors contributed equally to this workAbstract: In previous studies, we reported that the sortilin-related receptor, L (DLR class) A repeats containing (SORL1) gene single nucleotide polymorphisms (SNPs) are associated with the risk of sporadic Alzheimer’s disease (SAD) in the Han Chinese population. To further explore the relationships between SORL1 genetic variants and SAD, we conducted a two-step study. Sequencing analysis in 50 case samples identified 14 SNPs within the promoter and untranslated region of the SORL1 gene. Subsequent genotyping analysis in 106 patients with SAD and 179 healthy controls detected a significant association between the “G” allele of SNP rs1133174 in the 3' untranslated region of the SORL1 gene and SAD risk (odds ratio =1.92, 95% confidence interval [95% CI] =1.28–2.90, adjusted P=0.028). In addition, “G” allele carriers of rs1133174 (GA + GG) have a 2.15-fold increased risk of SAD compared to noncarriers (AA) (adjusted P=0.042). However, no significant positive associations were observed in the other 13 SNPs within the SORL1 gene. These preliminary findings suggest that the SORL1 SNP rs1133174 may be a potential risk locus for SAD in the Han Chinese population.Keywords: SORL1, Alzheimer’s disease, polymorphism, Han Chinese, associationZhang FLiu XWang BCheng ZZhao XZhu JWang DWang YDong ALi PJin CDove Medical PressarticleNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol 2015, Iss default, Pp 1443-1448 (2015)
institution DOAJ
collection DOAJ
language EN
topic Neurosciences. Biological psychiatry. Neuropsychiatry
RC321-571
Neurology. Diseases of the nervous system
RC346-429
spellingShingle Neurosciences. Biological psychiatry. Neuropsychiatry
RC321-571
Neurology. Diseases of the nervous system
RC346-429
Zhang F
Liu X
Wang B
Cheng Z
Zhao X
Zhu J
Wang D
Wang Y
Dong A
Li P
Jin C
An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer’s disease in the Han Chinese population
description Feng Zhang,1,2,* Xiaowei Liu,2,* Bailing Wang,3 Zaohuo Cheng,2 Xingfu Zhao,2 Jianzhong Zhu,2 Degang Wang,2 Ying Wang,2 Aiguo Dong,2 Pengpeng Li,2 Chunhui Jin21Mental Health Institute, The Second Xiangya Hospital, Central South University, Changsha, Hunan Province, 2Wuxi Mental Health Center of Nanjing Medical University, Wuxi, Jiangsu Province, 3Qingdao Mental Health Center, Qingdao, Shandong Province, People’s Republic of China*These authors contributed equally to this workAbstract: In previous studies, we reported that the sortilin-related receptor, L (DLR class) A repeats containing (SORL1) gene single nucleotide polymorphisms (SNPs) are associated with the risk of sporadic Alzheimer’s disease (SAD) in the Han Chinese population. To further explore the relationships between SORL1 genetic variants and SAD, we conducted a two-step study. Sequencing analysis in 50 case samples identified 14 SNPs within the promoter and untranslated region of the SORL1 gene. Subsequent genotyping analysis in 106 patients with SAD and 179 healthy controls detected a significant association between the “G” allele of SNP rs1133174 in the 3' untranslated region of the SORL1 gene and SAD risk (odds ratio =1.92, 95% confidence interval [95% CI] =1.28–2.90, adjusted P=0.028). In addition, “G” allele carriers of rs1133174 (GA + GG) have a 2.15-fold increased risk of SAD compared to noncarriers (AA) (adjusted P=0.042). However, no significant positive associations were observed in the other 13 SNPs within the SORL1 gene. These preliminary findings suggest that the SORL1 SNP rs1133174 may be a potential risk locus for SAD in the Han Chinese population.Keywords: SORL1, Alzheimer’s disease, polymorphism, Han Chinese, association
format article
author Zhang F
Liu X
Wang B
Cheng Z
Zhao X
Zhu J
Wang D
Wang Y
Dong A
Li P
Jin C
author_facet Zhang F
Liu X
Wang B
Cheng Z
Zhao X
Zhu J
Wang D
Wang Y
Dong A
Li P
Jin C
author_sort Zhang F
title An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer’s disease in the Han Chinese population
title_short An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer’s disease in the Han Chinese population
title_full An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer’s disease in the Han Chinese population
title_fullStr An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer’s disease in the Han Chinese population
title_full_unstemmed An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer’s disease in the Han Chinese population
title_sort exploratory study of the association between sorl1 polymorphisms and sporadic alzheimer’s disease in the han chinese population
publisher Dove Medical Press
publishDate 2015
url https://doaj.org/article/a1cf7d5245634862b4e4ac33c634907e
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