Distribution of a novel mutation in the first exon of the human dopamine D4 receptor gene in psychotic patients

Catalano, Marco; Nobile, Maria; Novelli, Ethel L. B.; Nöthen, Markus M.; Smeraldi, Enrico

doi:10.1016/0006-3223(93)90236-7

Cited by 121 publications

(90 citation statements)

References 17 publications

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“…The genomic DNA of quail was amplified using the F (5'-CGCCATGGGGAACCGCAG-3') and R (5'-CGGCTCACCTCGGAGTAGA-3') primers of exon I polymorphic region of DRD4 reported in humans (Catalano et al , 1993). Ten µ l of reaction mixtures containing 0.5 U LA Taq polymelase, GC buffer I (TaKaRa, Shiga Prefecture, Japan), 20-50 ng of template DNA, 0.5 µ M of each primer, and 400 µ M of each dNTP were used.…”

Section: Methodsmentioning

confidence: 99%

“…DRD4 is polymorphic at several positions of the gene and some of them are related to expression (Okuyama et al ., 1999), ligand binding (Van Tol et al ., 1992), personality (Ebstein et al ., 1996) and several psychiatric diseases. For example, the relation has been reported between the number of 12 bp repeats in the exon I region of DRD4 and delusional disorder (Catalano et al ., 1993). We have subsequently found two alleles in the corresponding region of dog (Ito et al ., 2004).…”

Section: Introductionmentioning

confidence: 99%

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Polymorphism of Dopamine Receptor D4 Exon I Corresponding Region in Chicken

et al. 2004

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Polymorphism of Dopamine Receptor D4 Exon I Corresponding Region in Chicken

et al. 2004

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“…In Caucasians, allele frequencies are 0.03, 0.16, 0.03, 0.65, and 0.13 for the 6, 7, 8, 9, and 10 repeat alleles, respectively (Petronis et al 1994a). A 12 bp duplication in the first exon, coding for the N-terminal extracellular region of DRD4 has been described (Catalano et al 1993), with a triple repeat allele also reported (Hebebrand et al 1997). Allele frequencies have been reported as 4% for A2 in Italians.…”

Section: Additional Polymorphisms Of Drd4mentioning

confidence: 98%

Dopamine D4 Receptor Gene Novelty or Nonsense?

Paterson

Sunohara

Kennedy

1999

Neuropsychopharmacology

154

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“…The coding region of the human DRD4 gene has been the subject of extensive mutation screening and no variant, which could account for the effect through linkage disequilibrium, has been identified to date. 14,[17][18][19][20][21] However, since the mutation screenings were performed in other than Israelian and Chinese populations it cannot be excluded that population-specific variants exist. It may also be possible that population-specific variation is present in regulatory regions of the gene, which still have to be defined at the molecular level.…”

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confidence: 99%

DRD4 exon III VNTR polymorphism—susceptibility factor for heroin dependence? Results of a case-control and a family-based association approach

et al. 2000

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Dopaminergic abnormalities are implicated in the pathogenesis of substance abuse. 1 Recently, two reports have been published suggesting an association between opioid dependence and presence of long alleles of the dopamine D 4 receptor (DRD4) gene exon III VNTR. 2,3 We have attempted to replicate this finding using a two-tiered strategy employing independent case-control and family-based association samples. Our study was possibly the largest candidate gene association study to date on opioid dependence in a sample of 815 subjects, 396 of whom were patients. We found long alleles of the DRD4 exon III VNTR in similar frequency among 285 heroin addicts and 197 controls. Furthermore, no preferential transmission of long alleles to affected offspring was observed in a sample of 111 patients and their parents. Our results, therefore, do not support the hypothesis that alleles of the DRD4 exon III VNTR are susceptibility factors for opioid dependence in man. Molecular Psychiatry (2000) 5, 101-104.Although social and cultural influences are clearly important, family, twin and adoption studies indicate that genes contribute significantly to substance abuse, 4-6 including addiction to alcohol, cocaine and opioids. In search for genetic factors of opioid dependence, two recent case-control association studies have implicated the DRD4 exon III VNTR in the development of disease. 2,3 The study by Kotler et al 2 investigated the exon III VNTR in 141 male opioid-dependent subjects and 110 male control subjects from Israel, and found a significant excess of the 7-repeat allele, with an odds ratio of 3.06 (95% CI 1.38-4.35). Li et al 3 studied a Chinese sample of 121 heroin-dependent subjects and 154 controls. While the 7-repeat allele is extremely rare in Chinese populations and was only observed in two patients, dividing the VNTR alleles into 'long' (5-7 repeats) and 'short' (2-4 repeats) alleles showed a significant excess of long alleles in the patient group, with an odds ratio of 2.30 (95% CI 1.07-4.93). These observations clearly suggest a causal contribution of genetic variation in the DRD4 to the development of opioid dependence. In the present study, we have attempted to replicate this finding by genotyping DNA samples from 285 heroin addicts and 197 controls. Since a major flaw of case-control association studies is the problem of undetected population stratification, we also applied a family-based association study design by genotyping an independent sample of 111 heroin addicts and their parents to examine preferential transmission of alleles to affected offspring.The distributions of genotype and allele frequencies of the DRD4 exon III VNTR in patients and controls are shown in Tables 1 and 2. There were no significant differences between patients and controls in the frequency of the 7-repeat allele ( 2 = 2.444; df = 1; P = 0.188) nor in any of the other alleles (Table 2). At least one 7-repeat allele was found in 35.1% of heroindependent subjects and 27.4% of controls ( 2 = 3.157; df = 1; P = 0.076). Moreover, pat...

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Distribution of a novel mutation in the first exon of the human dopamine D4 receptor gene in psychotic patients

Cited by 121 publications

References 17 publications

Polymorphism of Dopamine Receptor D4 Exon I Corresponding Region in Chicken

Polymorphism of Dopamine Receptor D4 Exon I Corresponding Region in Chicken

Dopamine D4 Receptor Gene Novelty or Nonsense?

DRD4 exon III VNTR polymorphism—susceptibility factor for heroin dependence? Results of a case-control and a family-based association approach

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