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Association between BACE1 gene polymorphisms and focal seizures in a Chinese Han population.

Abstract Beta-secretase 1 (BACE1) is attracting increasing attention for its vital role in pathogenesis of many neuropsychiatric disorders and many studies also have indicated BACE1 as a possible risk factor for seizures, but not any studies have reported association between BACE1 gene polymorphisms and seizures. Therefore, we investigated the possible association between focal seizures and BACE1 gene polymorphisms in the present study.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title medicine
Publication Year Start




PMID- 29595667
OWN - NLM
STAT- MEDLINE
DCOM- 20180411
LR  - 20180411
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 97
IP  - 13
DP  - 2018 Mar
TI  - Association between BACE1 gene polymorphisms and focal seizures in a Chinese Han 
      population.
PG  - e0222
LID - 10.1097/MD.0000000000010222 [doi]
AB  - BACKGROUND: Beta-secretase 1 (BACE1) is attracting increasing attention for its
      vital role in pathogenesis of many neuropsychiatric disorders and many studies
      also have indicated BACE1 as a possible risk factor for seizures, but not any
      studies have reported association between BACE1 gene polymorphisms and seizures. 
      Therefore, we investigated the possible association between focal seizures and
      BACE1 gene polymorphisms in the present study. METHODS: A total of 162 patients
      and 211 health controls were enrolled in this study and polymorphisms of BACE1
      gene were detected using polymerase chain reaction (PCR)-ligase detection
      reaction method. RESULTS: The frequency of genotype AT for BACE1 rs535860 (A>T)
      was significantly higher (24.1%) in patients compared to controls (14.7%) (OR =
      1.836, 95% CI = 1.086-3.102, P = .023). Intriguingly, we only found the
      significant difference of BACE1 SNP genotype and allele frequency among males but
      not females. However, no statistically significant results were presented for the
      genotype distributions of rs525493 (G>T) and rs638405(C>G) polymorphisms between 
      patients and controls. CONCLUSION: Our study demonstrated there may exist an
      association between BACE1 rs535860 (A>T) polymorphism and focal seizures in
      Chinese Han males.
FAU - Yang, Guangsheng
AU  - Yang G
AD  - Phase I Clinical Research Center, Department of Pharmacy, The First People's
      Hospital of Lianyungang, The Affiliated Hospital of Kangda College of Nanjing
      Medical University, Jiangsu, Lianyungang.
FAU - Wang, Haidong
AU  - Wang H
AD  - Phase I Clinical Research Center, Department of Pharmacy, The First People's
      Hospital of Lianyungang, The Affiliated Hospital of Kangda College of Nanjing
      Medical University, Jiangsu, Lianyungang.
FAU - He, Xin
AU  - He X
AD  - Department of Pharmacy, Second Xiangya Hospital, Central South University,
      Changsha, China.
FAU - Xu, Pengfei
AU  - Xu P
AD  - Institute of Clinical Pharmacy and Pharmacology, Jining First People's Hospital, 
      Jining Medical University, Jining.
FAU - Dang, Ruili
AU  - Dang R
AD  - Institute of Clinical Pharmacy and Pharmacology, Jining First People's Hospital, 
      Jining Medical University, Jining.
FAU - Feng, Qingyan
AU  - Feng Q
FAU - Jiang, Pei
AU  - Jiang P
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - EC 3.4.- (Amyloid Precursor Protein Secretases)
RN  - EC 3.4.23.- (Aspartic Acid Endopeptidases)
RN  - EC 3.4.23.46 (BACE1 protein, human)
SB  - AIM
SB  - IM
MH  - Adolescent
MH  - Amyloid Precursor Protein Secretases/*genetics
MH  - Asian Continental Ancestry Group/*genetics
MH  - Aspartic Acid Endopeptidases/*genetics
MH  - Child
MH  - Child, Preschool
MH  - China/epidemiology
MH  - Female
MH  - Gene Frequency
MH  - Humans
MH  - Infant
MH  - Male
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single Nucleotide
MH  - Risk Factors
MH  - Seizures/*genetics
MH  - Sex Factors
EDAT- 2018/03/30 06:00
MHDA- 2018/04/12 06:00
CRDT- 2018/03/30 06:00
PHST- 2018/03/30 06:00 [entrez]
PHST- 2018/03/30 06:00 [pubmed]
PHST- 2018/04/12 06:00 [medline]
AID - 10.1097/MD.0000000000010222 [doi]
AID - 00005792-201803300-00040 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2018 Mar;97(13):e0222. doi: 10.1097/MD.0000000000010222.