Genetics of Schizophrenia

A complete understanding on the genetics of schizophrenia is still a major challenge to scientists. In fact, a research done recently provides various candidate genes that have never been replicated consistently within or across a population. A study done by Copy Number Variation (CNV) offered an imperative evidence that suggested a role rare and common CNVs within schizophrenia. The current paper will focus on the genetics of schizophrenia.

Schizophrenia is a psychiatric disease. It has a lifespan pervasiveness of about 1% globally. Its main features are hallucination, occurrence of delusions, impaired cognition, disorganised speech, and mood symptoms. Male gender, immigration, and perinatal events such as maternal infection, malnutrition, hypoxia, and stress have been associated with high risks of acquiring schizophrenia. Indeed, evidences attained from twin, family, and adoption studies provide great genetic component. For instance, a meta-analysis done on twins projected their heritability to be approximately 81%. Moreover, a research done recently by Swedish estimated the hereditary to be 64 per cent. Therefore, of all the other factors for schizophrenia, the largest one is genetics. Nonetheless, no specific mode of bequest is common and almost a third of patients who suffer from schizophrenia have the same family background. Nevertheless, elucidation of etiological facets remains to be the overwhelming drawback to researchers of schizophrenia. Indeed, the most efficient techniques for establishment of genetic risk facets for schizophrenia have not been identified. The latter has led to various approaches such as epigenetics in a bid to elucidate the genetic aetiology. The initial observation indicated that schizophrenia had a polygenic mode of hereditary. More so, it indicated that it had polymorphic markers correlated to genetic mapping. As a result, numerous attempts have been done to establish susceptibility genes associated with schizophrenia by use of either association or linkage methods.

Among the earliest strategies used in extrication of genetic contribution associated with schizophrenia was the study of familial syndromes and chromosomal aberrations with schizophrenia-like phenotypes. Many families with schizophrenia reported chromosomal aberrations among other psychiatric disorders. In addition, by deleting section 22q11, scientist achieved the phenotype of velocardiofacial syndrome that involved abnormalities in the palate, facial features, and the midline heart defects.

In conclusion, Patients who had 22q11 deletion syndrome had psychotic symptoms that looked like schizophrenia when looked a frequency of 18%. The latter rate was higher than that of schizophrenia, which had a prevalence of 1% in the general population. Conversely, study done on patients with schizophrenia indicated that at least 2% of the patients had 22q11 deletions. Therefore, the region with 22q11 has the PRODH and the COMT genes among others.