ASHG Abstract Presented by Alyssa Scartozzi, Vanderbilt University, Nashville, Tennessee
The following is a significant abstract released on Thursday, November 2, during the Annual American Association of Human Genetics meeting (ASHG 2023), being held in Washington, DC, November 1-5.
Researchers found a potential connection between genetic risk for stuttering, a speech disorder characterized by repetition of sounds and pauses in speech, and body mass index, sleep patterns, suicide ideation, and testosterone levels. The research team also found a potential link between stuttering and depression. The study identified 92 genes across all tissues potentially linked to stuttering in females and 24 genes related to stuttering in males, significantly more than had been found in previous studies. The data emerged from more than a million self-reported stuttering cases and controls captured from 23andMe. A deeper understanding of the association of certain traits and stuttering and possible genes that lead to stuttering could help inform treatment and recognition of differences in presentation between men and women.
– Researchers used 18 traits, including the genetic risk of BMI (body mass index), chronotype (sleep patterns and preferences), walking pace, suicidal ideation, and testosterone levels, to perform sex-specific studies to uncover the relationship between these traits and stuttering. They also examined the relationship between stuttering and depression.
– The researchers found that the genetic risk of these traits did have a relationship to stuttering and that depression is often seen in individuals who stutter. These results are consistent with several studies suggesting that males and females who stutter report elevated symptoms of depression compared to those who do not have a stutter.
– 92 unique genes related to stuttering were found across all tissues in females and 24 were found in males, significantly more than what has been reported in previous studies.
– Further studies will look at neuro endotypes, or markers in the brain, associated with stuttering, as well as differences in clinical presentation between men and women.