TY - JOUR
T1 - Association between genetic variation at the porphobilinogen deaminase gene and schizophrenia
AU - Sanders, Alan R.
AU - Rincon-Limas, Diego E.
AU - Chakraborty, Ranajit
AU - Grandchamp, Bernard
AU - Hamilton, Joseph D.
AU - Fann, William E.
AU - Patel, Pragna I.
PY - 1993/1
Y1 - 1993/1
N2 - There is growing evidence that some genetic predisposition is important in the etiology of schizophrenia. We have sought to implicate a major gene by performing a candidate gene association study comparing the allele frequencies of seven restriction fragment length polymorphisms (RFLPs) at six loci in both a psychiatrically normal control group (N = 51) and an affected (schizophrenia or schizoaffective disorder) group (N = 55). Each group comprised Caucasians of northern European origin. The candidate areas (D5S39, D5S78, dopamine receptor D2 (DRD2), D11S29, porphobilinogen deaminase (PBGD), and D11S84) were selected on the basis of prior cytogenetic findings in schizophrenics, linkage studies, and/or implicated gene products. The presence of a polymorphic ApaLI site within the PBGD gene showed a significant association with the presence of illness (P = 0.02). The relative risk of possessing the allele with the ApaLI site was 2.10. No significant association was found with any of the six other RFLPs. Our data suggests that either the PBGD gene itself or an unknown gene linked to and/or in linkage disequilibrium with the PBGD locus predisposes some individuals to schizophrenia. Independent replication of these findings will be required to determine their relevance to schizophrenia.
AB - There is growing evidence that some genetic predisposition is important in the etiology of schizophrenia. We have sought to implicate a major gene by performing a candidate gene association study comparing the allele frequencies of seven restriction fragment length polymorphisms (RFLPs) at six loci in both a psychiatrically normal control group (N = 51) and an affected (schizophrenia or schizoaffective disorder) group (N = 55). Each group comprised Caucasians of northern European origin. The candidate areas (D5S39, D5S78, dopamine receptor D2 (DRD2), D11S29, porphobilinogen deaminase (PBGD), and D11S84) were selected on the basis of prior cytogenetic findings in schizophrenics, linkage studies, and/or implicated gene products. The presence of a polymorphic ApaLI site within the PBGD gene showed a significant association with the presence of illness (P = 0.02). The relative risk of possessing the allele with the ApaLI site was 2.10. No significant association was found with any of the six other RFLPs. Our data suggests that either the PBGD gene itself or an unknown gene linked to and/or in linkage disequilibrium with the PBGD locus predisposes some individuals to schizophrenia. Independent replication of these findings will be required to determine their relevance to schizophrenia.
KW - (Schizophrenia)
KW - Association
KW - Linkage
KW - Porphobilinogen deaminase gene
UR - http://www.scopus.com/inward/record.url?scp=0027464659&partnerID=8YFLogxK
U2 - 10.1016/0920-9964(93)90019-F
DO - 10.1016/0920-9964(93)90019-F
M3 - Article
C2 - 8094629
AN - SCOPUS:0027464659
SN - 0920-9964
VL - 8
SP - 211
EP - 221
JO - Schizophrenia Research
JF - Schizophrenia Research
IS - 3
ER -