Lack of association of cathepsin D genetic polymorphism with Alzheimer's disease in Koreans.
Cathepsin D (CatD) is a good candidate susceptibility marker for Alzheimer's disease (AD), since it was found to be involved in the processing of the amyloid precursor protein and the formation of the hyperphosphorylated tau. And recently, a CatD genetic polymorphism was found to be associated with the risk of Alzheimer's disease (AD) in a German population. However, the CatD T-AD association has not been replicated in a series of the successive independent studies in other races. Therefore, we determined CatD genotypes to examine the possible association of the CatD polymorphism with AD in Koreans. We failed to find significant association between the CatD T allele and AD. In addition, the CatD T--AD association was not significant regardless of the age at onset or the occurrence of the apolipoprotein epsilon4 allele. However, we cannot exclude the possible contribution of the CatD in the development of AD, since the power of the present study was not high enough because of low allelic frequency of the CatD T in Koreans and small sample size. In conclusion, the association between the CatD genetic polymorphism and AD was not found in Koreans, although it waits for further replication in an extended sample.
Jhoo
Jin Hyeong
JH
Department of Psychiatry, Pundang Jesaeng Hospital, Daejin Medical Center, 255-2 Seohyun, Seongnam, Kyunggi 463-774, Republic of Korea.
Park
Woong Yang
WY
Kim
Ki Woong
KW
Lee
Kwang Hyuk
KH
Lee
Dong Young
DY
Youn
Jong Chul
JC
Choo
Il Han
IH
Seo
Jeong Sun
JS
Woo
Jong Inn
JI
D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D002402:Cathepsin D / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007723:Korea; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
D002402:Cathepsin D