Sezen Guntekin Ergun

The Corr elation of Attention Deficit Hyperactivity Disorder with DRD4 Gene Polymorphism in Turkey

Abstract Attention Deficit Hyperactivity Disorder (ADHD) is a disorder with a strong genetic background, and genetic factors are thought to play a crucial role in its aetiology and developmental course. In this study the researchers investigated the correlation of ADHD with the dopamine receptor D4 (DRD4) gene. Fifty patients (6–10 years of age) diagnosed between 1994 and 2001 and followed up 7–14 years until their adolescence and young adulthood (16–25 years of age) were included in the study. Fifty healthy individuals of the same age were included as the control group. DRD4 gene analysis of patients was performed after detailed clinical evaluation. The researchers found that 88% of patients continued to meet the criteria of ADHD in adolescence and young adulthood. The most frequent DRD4 gene alleles among the ADHD and control groups were 4-, 8- and 2-repeat alleles. While the frequency of the 8-repeat allele was higher than reported global estimations, none of the three alleles were found to be significant for ADHD. However, in the presence of the 2-repeat allele for the combined subtype of ADHD diagnosed in childhood, the persistence ratio was found to be statistically significant in adolescence and young adulthood. The DRD4 gene may play a role in the developmental course of ADHD in the Turkish population.

Evaluation of GenoFlow Thrombophilia Array Test Kit in Its Detection of Mutations in Factor V Leiden (G1691A), Prothrombin G20210A, MTHFR C677T and A1298C in Blood Samples from 113 Turkish Female Patients

Thrombophilia is a heritable blood disease characterized by an increased tendency to form abnormal blood clots that can block blood vessels. In obstetrics and gynecology, it has been shown by a number of reports that a proportion of recurrent miscarriages involve thrombophilia-related mutations, in particular, Factor V G1691A, prothrombin G20210A, and MTHFR C677T and A1298C. In this study, we examined the frequency of these four mutations in 113 female Turkish patients who had prior complications in pregnancy, using the DiagCor GenoFlow Thrombophilia Array Test kit. Heterozygous MTHFR C677T and A1298C mutations were detected in 46% of the patients, and among these patients, 60% of them carried double heterozygous mutations. In contrast, the heterozygous Factor V G1691A and prothrombin G20210A were detected only in a smaller number of patients, respectively, 13% and 3%. The GenoFlow kit demonstrated 100% concordance with results from Sanger sequencing, which can be translated into sensitivity and specificity both at 100% within this series of patients.

T102C and 1438 G/A Polymorphisms of the Serotonin 2A Receptor Gene in Etiology and Course of ADHD

Abstract The aim of this study was to investigate the -1438A>G and T102C polymorphisms of serotonin 2A (5-HT2A) receptor gene frequencies in patients with ADHD compared with a healthy control group, and to determine the effects of these polymorphisms on the course and outcome of ADHD. Fifty adolescents and young adults diagnosed with ADHD in childhood (between 1994 and 2001) were included in this study. The patients were followed in the Child and Adolescent Psychiatry Department of Gazi University Medical Faculty for 7–14 years, and they completed this follow-up period. The control group consisted of 50 adolescents and young adults who were healthy both physically and mentally. In adolescence and adulthood, a diagnosis was reached after a semistructured interview based on the DSM-IV criteria. A genetic evaluation was carried out using the Polymerase Chain Reaction method. 50 adolescents and young adults (39 males, 11 females; age range 16-25 years) who were diagnosed with ADHD during childhood (age range at the time of diagnosis 6–10 years) and 50 healthy adolescents and young adults (33 males, 17 females; age range 16-25 years) were evaluated. In adolescence and adulthood, the diagnosis of ADHD remained in 44 (88%) of the cases, whereas six (12%) were in remission after the 7–14-year follow-up.* No significant difference in the frequency of CC, CT and TT genotypes of T102C polymorphism (χ2=1.629, p=0.44) and AA, AG and GG genotypes of -1438A>G polymorphism (χ2= 0.065, p=0.96) was found between the ADHD and control groups. No significant difference was found between ADHD patients with CC, CT, or TT genotypes in terms of the outcome of the illness (χ2=0.114, p=0.94). Similarly, there was no difference between ADHD patients with AA, AG, and GG genotypes in terms of the outcome (χ2=0.530, p=0.76). No significant association between -1438A>G and T102C polymorphisms of the 5-HT2A receptor gene and ADHD was found in the present study. No significant effect of these two polymorphisms on the outcome of ADHD in adolescence was detected. The results of this study do not support a role for the serotonergic system in the development and course of ADHD.

Analysis of GNAL Polymorphisms in Attention Deficit Hyperactivity Disorder

Abstract Attention deficit hyperactivity disorder (ADHD) is a childhood-onset neuropsychiatric disorder. Dopamine related genes have been reported to be associated with ADHD. Dopamine 1 and 5 receptors together with the olfactory alpha subunit of the GTP-binding protein (Golf) in the striatum, mediate adenlyl cyclase activation. The aim of the paper was to investigate the correlation between ADHD, subtypes, family history of ADHD in rs8095592, and rs3892113 in GNAL(the gene that codes Golf). 100 children with ADHD and 81 healthy controls were recruited for the study. Genetic evaluation was performed with venous blood samples. The frequency of the genotypes and alleles in rs8095592 and rs3892113 was not significantly different between the patient and control groups. The GG genotype in rs8095592 was significantly more common in the patients who had a family history of ADHD. In conclusion, the presence of the allele A in rs8095592 could be preventive from ADHD in those with family history.