Population-dependent migration shift caused by sequence variation at the alpha fibrinogen (FGA) short tandem repeat (STR) locus
FORENSIC SCIENCE INTERNATIONAL
Authors: Ariel, Tal; Dell'Ariccia-Carmon, Aviva; Pasternak, Zohar; Raziel, Aliza
Abstract
The alpha fibrinogen (FGA) is a core short tandem repeat (STR) locus commonly used in forensic laboratories and is part of most of the commercial multiplex forensic STR kits. There are two distinct groups of FGA alleles based on their size: alleles 16-34.2 and 42.2-51.2. A thorough survey revealed that the long (>33) FGA alleles appear exclusively in populations of sub-Saharan Africans, Caribbean of African descent, non-African Arabs and peoples of non-African Arab descent. Our survey revealed that the long FGA alleles are rare and appear in only 0.01-1% of these populations, with the rarest allele being 47.2. The Israel Police DNA database includes about 470,000 DNA profiles, of which 193 bear an FGA allele longer than 33.2 and only 64 bearing the 47.2 allele. 30 samples with DNA profiles known to contain long FGA alleles were re-analyzed using three different STR multiplex kits. The regions of each long allele were sequenced in addition to STR analysis. The allele sequences revealed a striking difference in the pattern of repeats between the population groups of African and Arab descent. Eight of our samples contained the 47.2 allele, with a clear distinction between 47.2 sequences derived from African vs. Arab populations. In STR analysis, all 47.2 alleles displayed a shift from the allelic ladder bin center in all three kits. In all kits, the shift was significantly larger in the Arab population than in the African population. Hence, there is a population-dependent migration shift which may help differentiate profiles derived from different populations. (C) 2020 Published by Elsevier B.V.
Combination therapy as a potential risk factor for the development of type 2 diabetes in patients with schizophrenia: the GOMAP study
BMC PSYCHIATRY
Authors: Mamakou, Vasiliki; Hackinger, Sophie; Zengini, Eleni; Tsompanaki, Evgenia; Marouli, Eirini; Serafetinidis, Ioannis; Prins, Bram; Karabela, Athina; Glezou, Eirini; Southam, Lorraine; Rayner, Nigel W.; Kuchenbaecker, Karoline; Lamnissou, Klea; Kontaxakis, Vassilis; Dedoussis, George; Gonidakis, Fragiskos; Thanopoulou, Anastasia; Tentolouris, Nikolaos; Zeggini, Eleftheria
Abstract
Background: Schizophrenia (SCZ) is associated with increased risk of type 2 diabetes (T2D). The potential diabetogenic effect of concomitant application of psychotropic treatment classes in patients with SCZ has not yet been evaluated. The overarching goal of the Genetic Overlap between Metabolic and Psychiatric disease (GOMAP) study is to assess the effect of pharmacological, anthropometric, lifestyle and clinical measurements, helping elucidate the mechanisms underlying the aetiology of T2D. Methods: The GOMAP case-control study (Genetic Overlap between Metabolic and Psychiatric disease) includes hospitalized patients with SCZ, some of whom have T2D. We enrolled 1653 patients with SCZ; 611 with T2D and 1042 patients without T2D. This is the first study of SCZ and T2D comorbidity at this scale in the Greek population. We retrieved detailed information on first-and second-generation antipsychotics (FGA, SGA), antidepressants and mood stabilizers, applied as monotherapy, 2-drug combination, or as 3-or more drug combination. We assessed the effects of psychotropic medication, body mass index, duration of schizophrenia, number of hospitalizations and physical activity on risk of T2D. Using logistic regression, we calculated crude and adjusted odds ratios (OR) to identify associations between demographic factors and the psychiatric medications. Results: Patients with SCZ on a combination of at least three different classes of psychiatric drugs had a higher risk of T2D [OR 1.81 (95% CI 1.22-2.69); p = 0.003] compared to FGA alone therapy, after adjustment for age, BMI, sex, duration of SCZ and number of hospitalizations. We did not find evidence for an association of SGA use or the combination of drugs belonging to two different classes of psychiatric medications with increased risk of T2D [1.27 (0.84-1.93), p = 0.259 and 0.98 (0.71-1.35), p = 0.885, respectively] compared to FGA use. Conclusions: We find an increased risk of T2D in patients with SCZ who take a combination of at least three different psychotropic medication classes compared to patients whose medication consists only of one or two classes of drugs.