PMID- 10447260
OWN - NLM
STAT- MEDLINE
DCOM- 19990921
LR  - 20220309
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 1
DP  - 1999
TI  - No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4)
      and type 1 diabetes in the Danish population. DIEGG and DSGD. Danish IDDM
      Epidemiology and Genetics Group and The Danish Study Group of Diabetes in
      Childhood.
PG  - 67-70
AB  - Recent genome screening studies have identified novel regions of possible
      interest for susceptibility to type 1 diabetes. One of these is a 30-35 cM region
      mapping to 16q22-q24 (D16S515-D16S520), where also the gene encoding NAD(P)H:
      quinone oxidoreductase (NQO1) maps. Data has suggested association of a
      polymorphism (P187S) in the NQO1 gene and type 1 diabetes. NQO1 is involved in
      protection against oxidative stress, which is likely to be involved in beta-cell 
      destruction. By use of the transmission disequilibrium test (TDT), we analyzed
      the P187S polymorphism for association to type 1 diabetes in a population-based
      sample of 247 Danish nuclear type 1 diabetic families. Random transmission
      patterns were observed to all affected offspring (p(tdt) = 0.82), to index cases 
      (P(tdt) = 0.77), as well as to unaffected offspring (P(tdt) = 0.93). Hence, the
      NQO1 polymorphism is not likely to be an etiological mutation underlying the
      reported linkage of the 16q22-q24 region.
FAU - Kristiansen, O P
AU  - Kristiansen OP
AD  - Steno Diabetes Center, Gentofte, Denmark.
FAU - Larsen, Z M
AU  - Larsen ZM
FAU - Johannesen, J
AU  - Johannesen J
FAU - Nerup, J
AU  - Nerup J
FAU - Mandrup-Poulsen, T
AU  - Mandrup-Poulsen T
FAU - Pociot, F
AU  - Pociot F
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - EC 1.6.5.2 (NAD(P)H Dehydrogenase (Quinone))
SB  - IM
MH  - Chromosomes, Human, Pair 16
MH  - Denmark
MH  - Diabetes Mellitus, Type 1/enzymology/*genetics
MH  - Female
MH  - *Genetic Linkage
MH  - Genetic Predisposition to Disease
MH  - Heterozygote
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Male
MH  - NAD(P)H Dehydrogenase (Quinone)/*genetics
MH  - *Polymorphism, Genetic
EDAT- 1999/08/14 10:00
MHDA- 2000/06/22 10:00
CRDT- 1999/08/14 10:00
PHST- 1999/08/14 10:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/08/14 10:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)14:1<67::AID-HUMU8>3.0.CO;2-5 [pii]
AID - 10.1002/(SICI)1098-1004(1999)14:1<67::AID-HUMU8>3.0.CO;2-5 [doi]
PST - ppublish
SO  - Hum Mutat. 1999;14(1):67-70. doi:
      10.1002/(SICI)1098-1004(1999)14:1<67::AID-HUMU8>3.0.CO;2-5.