title: Relationship between the gene polymorphisms of kallikrein-kinin system and Alzheimer's disease in a Hunan Han Chinese population.
abstract: This study aimed to determine the connection between polymorphisms of kallikrein kinin system including KLK1 (rs5516), KNG1 (rs710446, rs2304456) and ACE (rs4291, rs4309, rs4343) and late-onset Alzheimer's disease (LOAD). The research was conducted as a case-control study, comprising 201 AD patients in the AD group, and 257 healthy subjects as the control group. PCR amplification and matrix-assisted laser desorption-ionization time-of-flight mass spectrometry (MALDI-TOF MS) were used to detect the six polymorphisms (rs5516 in KLK1; rs710446, rs2304456 in KNG1; rs4291, rs4309, rs4343 in ACE) from both groups. No statistically significant difference was found between the genotype and allelotype distributions of rs5516, rs710446, rs2304456, rs4291 and rs4343 (P>0.05). The differences between the genotype and allelotype distributions of the rs4309 were statistically significant (P<0.05). Haplotype analysis confirmed the existence of three haplotypes (AG, AT, GT) composed of rs710446/rs2304456, and six haplotypes (ATA, ACA, TCA, TCG, TTA, TTG) composed of rs4291/rs4309/rs4343, among which the distribution of ATA, ACA, TCA between the two groups was statistically significant difference (P<0.05). Our study showed that the polymorphisms of rs5516, rs710446, rs2304456, rs4291 and rs4343 is not related to the incidence of LOAD. The polymorphisms of rs4309 may be related to LOAD, as well as ATA, ACA, and TCA haplotype composed of rs4291/rs4309/rs4343.
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South UniversityChangsha, China; Department of Neurology, The First Hospital of ChangshaChangsha, China.
authors.forename: Yanyao
authors.initials: Y
authors.lastname: Deng
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University Changsha, China.
authors.forename: Deren
authors.initials: D
authors.lastname: Hou
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University Changsha, China.
authors.forename: Mi
authors.initials: M
authors.lastname: Tian
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South UniversityChangsha, China; Department of Neurology, The First Hospital of ChangshaChangsha, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University Changsha, China.
authors.forename: Xialu
authors.initials: X
authors.lastname: Feng
authors.affiliation: Department of Neurology, The Third Xiangya Hospital, Central South University Changsha, China.
authors.forename: Zhuling
authors.initials: Z
authors.lastname: Yu
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D015994:Incidence; D007610:Kallikreins / Q000235:genetics*; D007704:Kininogens / Q000235:genetics*; D008297:Male; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D005819:Genetic Markers; C000591034:KNG1 protein, human; D007704:Kininogens; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A; D007610:Kallikreins
keywords: Alzheimer’s disease; gene; kallikrein-kinin system; polymorphism