Genetics of Self-injurious Behaviour

NCT05563324 | Completed

• 1 other identifier: IRP-2013/01-07
• Study Type: observational
• Target: 234
• Locations: 0 countries
• Sites: N/A

Brief Summary

Nonsuicidal Self-Injury (NSSI) is being increasingly regarded as a separate psychiatric disorder. Since the latest Diagnostic and Statistical Manual of Mental Disorders - DSM-5 from 2013 defined NSSI as a separate diagnosis under section III - Conditions for Further Study, the knowledge about this field has increased considerably; however, the aetiology of this behaviour has still not been explained. There are many psychological explanations for the development and the continuation of NSSI. Researchers have identified the most common comorbidities (depression, borderline personality disorder, anxiety). The causes of NSSI are not known, although studies that have been carried out so far indicate both genetic and environmental factors. The research included 95 adolescents with NSSI (participants were diagnosed based on the DSM-5 criteria), an original control group consisting of 21 people without NSSI, and 118 individuals from the general population as an additional control group for genetic research. For all participants we carried out the genotyping of polymorphisms for the TPH1 (rs4537731, rs1799913, rs7933505), SLC6A4 (VNTR STin2), OPRM1 (rs1799971), GNβ3 (rs5443) and DRD2/ANKK1 (rs1800497) genes. The participants with NSSI and the control group without NSSI completed translated questionnaires for the Barratt Impulsiveness Scale (BIS-11), State-Trait Anxiety Inventory for Adults (STAI), MacLean Screening Instrument for BPD (MSI-BPD) and the Early Trauma Inventory Self Report-Short Form (ETISR-SF). The participants with NSSI also completed the questionnaire for the Inventory of Statements about Self-Injury (ISAS), and the Self-Injury Craving Questionnaire (SICQ). The investigators carried out an association analysis and G x E analyses. The aim of the research was to carry out the first G x E study on the etiology of NSSI in Slovene adolescents. We have hypothesized that NSSI could be associated with one of the candidate polymorphisms or a combination of candidate polymorphisms. Further we have hypothesized that the genetic polymorphisms associated to NSSI are the most connected to NSSI in traumatised individuals and that NSSI is associated with higher impulsivity.

Conditions

Self Injurious Behavior Without Suicidal Intent; Self-Injurious Behavior

Keywords

Self-Injurious Behavior; genetic polymorphisms; TPH1; SLC6A4; OPRM1; GNβ3; DRD2/ANKK1; anxiety; borderline personality disorder; trauma; impulsivity

Outcome Measures

Primary Outcomes (5)

• Two generalized linear models between the polymorphism rs1799971 of the OPRM1 gene, two types of anxiety as covariates and craving for NSSI as dependent variable.

  The two types of anxiety measured with State-Trait Anxiety Inventory for Adults (STAI), which measures "State anxiety" - i.e. the level of anxiety that the individual feels at a given event and "Trait anxiety" - long-term state of the individual. Craving measured with Self-Injury Craving Questionnaire (SICQ).

  All of the included parameters are a one time measure.

• A logistic regression with the overall Early Trauma Inventory Self Report-Short Form (ETISR-SF) score, as well as SLC6A4 VNTR status as independent variables and the presence of NSSI as a dependent variable.

  The presence of NSSI has been determined with the group status (clinical sample or control group) of the participant.

  All of the included parameters are a one time measure.

• Measurement of the craving for NSSI (with the Self-Injury Craving Questionnaire score) for the participants in the clinical sample.

  Calculation of the average craving for NSSI in the clinical sample has been made. Comparison of the average craving for NSSI in the clinical sample with the average cocaine craving score from the reference article has been made.

  All of the included parameters are a one time measure.

• A logistic regression with the overall Early Trauma Inventory Self Report-Short Form (ETISR-SF) score, as well as rs1800497 polymorphism status as independent variables and the presence of NSSI as a dependent variable.

  The presence of NSSI has been determined with the group status (clinical sample or control group) of the participant.

  All of the included parameters are a one time measure.

• Analysis of the relationship between candidate genotypes and pain perception during NSSI.

  Logistic regression models with candidate genotypes as independent variables and pain perception during NSSI as dependent variable have been made. The contribution of the rs1799971 / rs1800497 genotype to pain perception has been studied using logistic regression models that were adjusted to STAI STATE / STAI TRAIT / MSI - BPD/ ETISR - SF.

  All of the included parameters are a one time measure.

Secondary Outcomes (3)

• Analysis of the relationship between rs4537731 polymorphism status of the TPH 1 gene and age at the beginning of NSSI.

  All of the included parameters are a one time measure.

• Analysis of the relationship between craving for NSSI as measured by Self-Injury Craving Questionnaire score and the number of NSSI episodes during lifetime (measured with the Inventory of Statements about Self - Injury).

  All of the included parameters are a one time measure.

• Different logistic regression models with parameters of the ETISR-SF / BIS-11 / MSI - BPD / STAI STETE / STAI TRAIT and rs5443 (GNβ3 gene) as independent variable and NSSI as dependent variable have been made.

  All of the included parameters are a one time measure.

Other Outcomes (1)

• Analysis of the relationship between trauma and abuse, measured by the Early Trauma Inventory Self Report-Short Form (ETISR-SF), and NSSI.

  All of the included parameters are a one time measure.

Study Arms (3)

clinical sample

adolescents with nonsuicidal self-injury

Genetic: DNA extraction and genotyping of candidate genetic polymorphisms; Other: self-assessment questionnaires

original control group

adolescents with no history of nonsuicidal self-injury

Genetic: DNA extraction and genotyping of candidate genetic polymorphisms; Other: self-assessment questionnaires

general control group

adolescents from the general population

Genetic: DNA extraction and genotyping of candidate genetic polymorphisms

Interventions

DNA extraction and genotyping of candidate genetic polymorphisms GENETIC

clinical sample; general control group; original control group

self-assessment questionnaires OTHER

clinical sample; original control group

Eligibility Criteria

• Age: 12 Years - 24 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Clinical sample We have invited 96 adolescents (12 - 21 years) with NSSI to participate in our study. The adolescents have been patients of the Paediatrics Clinic - University Clinical Centre Maribor, or the Unit for Adolescent Psychiatry - University Psychiatric Clinic Ljubljana, or the Child and adolescent Psychiatry - Health Care Centre Dr Adolf Drolc Maribor or have been treated by Natasa Potocnik Dajcman, M.D.. DNA of 95 adolescents could be isolated properly. Control group We have invited 96 adolescents (12 - 21 years) with no history of NSSI. From those adolescents, we managed to create an original control group with 21 participants. General control group Because of the demands of the genetics analysis, we have formed one more control group - the general control group. This control group was formed from 118 adolescents (18- 24 years) of the general population, that donated their DNA samples for research purposes.

You may qualify if:

• All of the adolescents from the clinical sample met the research criteria for NSSI proposed in section III (Conditions for further study) of the DSM-5 (American Psychiatric Association, 2013):
• (A)In the last year, the individual has, on 5 or more days, engaged in intentional self-inflicted damage to the surface of his or her body of a sort likely to induce bleeding, bruising, or pain (e.g., cutting, burning, stabbing, hitting, and excessive rubbing), with the expectation that the injury will lead to only minor or moderate physical harm (i.e., there is no suicidal intent). Note: The absence of suicidal intent has either been stated by the individual or can be inferred by the individual's repeated engagement in a behavior that the individual knows, or has learned, is not likely to result in death.
• (B)The individual engages in the self-injurious behavior with one or more of the following expectations:(1)to obtain relief from a negative feeling or cognitive state,(2)to resolve an interpersonal difficulty,(3)to induce a positive feeling state. Note: The desired relief or response is experienced during or shortly after the self-injury, and the individual may display patterns of behavior suggesting a dependence on repeatedly engaging in it.
• (C)The intentional self-injury is associated with at least one of the following:(1)interpersonal difficulties or negative feelings or thoughts, such as depression, anxiety, tension, anger, generalized distress, or self-criticism, occurring in the period immediately prior to the self-injurious act,(2)prior to engaging in the act, a period of preoccupation with the intended behavior that is difficult to control,(3)thinking about self-injury that occurs frequently, even when it is not acted upon.
• (D)The behavior is not socially sanctioned (e.g., body piercing, tattooing, part of a religious or cultural ritual) and is not restricted to picking a scab or nail biting.
• (E)The behavior or its consequences cause clinically significant distress or interference in interpersonal, academic, or other important areas of functioning.
• (F)The behavior does not occur exclusively during psychotic episodes, delirium, substance intoxication, or substance withdrawal. In individuals with a neurodevelopmental disorder, the behavior is not part of a pattern of repetitive stereotypies. The behavior is not better explained by another mental disorder or medical condition (e.g., psychotic disorder, autism spectrum disorder, intellectual disability, Lesch-Nyhan syndrome, stereotyped movement disorder with self-injury, trichotillomania \[hair pulling disorder\], and excoriation \[skin picking disorder\]).

You may not qualify if:

• Control group
• absence of NSSI behavior over a lifetime,
• no treatment by a psychologist or a (child and adolescent) psychiatrist ever in life,
• age between 12 and 21 years.
• a diagnosis of mental disorder,
• intellectual disability,
• autism spectrum disorder.
• General control group
• \- age between 18 and 24 years.

Sponsors & Collaborators

• University Medical Centre Maribor: lead
• Faculty of Medicine, University of Maribor: collaborator

Related Publications (42)

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Biospecimen

Retention: SAMPLES WITH DNA

DNA isolated from whole blood

MeSH Terms

Conditions

Self-Injurious Behavior; Anxiety Disorders; Borderline Personality Disorder; Wounds and Injuries; Impulsive Behavior

Condition Hierarchy (Ancestors)

Behavioral Symptoms; Behavior; Mental Disorders; Personality Disorders

Study Officials

• Hojka Gregorič Kumperščak, M.D., Ph.D.

  University Medical Centre Maribor and Faculty of Medicine, University of Maribor

  STUDY DIRECTOR

• Uroš Potočnik, Ph.D.

  Faculty of Medicine, University of Maribor

  STUDY CHAIR

• Teja Bunderla, M.D., Ph.D.

  at the time of research - University Medical Centre Maribor, now - Gesellschaft zur Förderung seelischer Gesundheit GmbH

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 3, 2022
• First Posted: October 3, 2022
• Study Start: May 9, 2014
• Primary Completion: June 18, 2018
• Study Completion: June 18, 2018
• Last Updated: October 3, 2022

Record last verified: 2022-09