PMID- 10069711
OWN - NLM
STAT- MEDLINE
DCOM- 19990517
LR  - 20071114
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 82
IP  - 5
DP  - 1999 Feb 19
TI  - Polymorphisms at the Werner locus: I. Newly identified polymorphisms, ethnic
      variability of 1367Cys/Arg, and its stability in a population of Finnish
      centenarians.
PG  - 399-403
AB  - The Werner syndrome gene (WRN) encodes a novel helicase of 1,432 amino acids.
      Homozygous mutations, all of which result in the truncation of the protein, lead 
      to Werner syndrome. However, little is known about the role of WRN in "normal"
      aging. We have identified four missense polymorphisms and four conservative
      polymorphsims in WRN gene. A single study showed that a polymorphism at amino
      acid 1367 Cys(TTG)/ Arg(CTG) is associated with a variation in risk of myocardial
      infarction among a Japanese population. The 1367 Cys/Arg polymorphism was
      examined during aging in three different populations: Finnish, Mexican, and North
      American. The frequencies of 1367 Cys were higher than those of 1367 Arg in all
      the populations examined, though the frequencies varied among populations. The
      frequency of the 1367 Arg allele, thought to be protective against myocardial
      infarction in a Japanese population, was approximately three times higher in the 
      North American and Finnish adult populations. When newborns and centenarians were
      compared within the Finnish population, no differences were observed in the
      proportions of 1367 Cys/Arg across age groups. Within the Finnish population, we 
      confirmed a significant decrease of the APOE epsilon2 allele and an increase in
      the epsilon4 allele in newborn infants compared with centenarians. Thus, unlike
      the APOE polymorphism, there is no evidence of an association of this WRN
      polymorphism with longevity.
FAU - Castro, E
AU  - Castro E
AD  - Department of Pathology, University of Washington, Seattle 98195, USA.
FAU - Ogburn, C E
AU  - Ogburn CE
FAU - Hunt, K E
AU  - Hunt KE
FAU - Tilvis, R
AU  - Tilvis R
FAU - Louhija, J
AU  - Louhija J
FAU - Penttinen, R
AU  - Penttinen R
FAU - Erkkola, R
AU  - Erkkola R
FAU - Panduro, A
AU  - Panduro A
FAU - Riestra, R
AU  - Riestra R
FAU - Piussan, C
AU  - Piussan C
FAU - Deeb, S S
AU  - Deeb SS
FAU - Wang, L
AU  - Wang L
FAU - Edland, S D
AU  - Edland SD
FAU - Martin, G M
AU  - Martin GM
FAU - Oshima, J
AU  - Oshima J
LA  - eng
GR  - P01 AG01751/AG/NIA NIH HHS/United States
GR  - R01 AG14446/AG/NIA NIH HHS/United States
GR  - R24 CA78088/CA/NCI NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Apolipoproteins E)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Aging
MH  - Apolipoproteins E/genetics
MH  - Blood/metabolism
MH  - Fetal Blood/metabolism
MH  - Finland
MH  - Gene Frequency
MH  - Genotype
MH  - Humans
MH  - Infant, Newborn
MH  - Middle Aged
MH  - Models, Genetic
MH  - Mutation, Missense
MH  - *Polymorphism, Genetic
MH  - Polymorphism, Restriction Fragment Length
MH  - Werner Syndrome/ethnology/*genetics
EDAT- 1999/03/09 03:01
MHDA- 2000/05/08 09:00
CRDT- 1999/03/09 03:01
PHST- 1999/03/09 03:01 [pubmed]
PHST- 2000/05/08 09:00 [medline]
PHST- 1999/03/09 03:01 [entrez]
AID - 10.1002/(SICI)1096-8628(19990219)82:5<399::AID-AJMG8>3.0.CO;2-R [pii]
PST - ppublish
SO  - Am J Med Genet. 1999 Feb 19;82(5):399-403.