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. 2024 May;86(2):216-222.
doi: 10.18999/nagjms.86.2.216.

Study of the genetic association between selected 3q29 region genes and schizophrenia and autism spectrum disorder in the Japanese population

Gantsooj Otgonbayar  1 , Tzuyao Lo  1 , Yu Hayashi  1 , Sho Furuta  1 , Branko Aleksic  1 , Yoshihiro Nawa  1 , Itaru Kushima  1   2 , Hidekazu Kato  1 , Hiroki Kimura  1 , Norio Ozaki  1
Affiliations

Study of the genetic association between selected 3q29 region genes and schizophrenia and autism spectrum disorder in the Japanese population

Gantsooj Otgonbayar et al. Nagoya J Med Sci. 2024 May.

Abstract

Psychiatric disorders are highly inheritable, and most psychiatric disorders exhibit genetic overlap. Recent studies associated the 3q29 recurrent deletion with schizophrenia (SCZ) and autism spectrum disorder (ASD). In this study, we investigated the association of genes in the 3q29 region with SCZ and ASD. TM4SF19 and PAK2 were chosen as candidate genes for this study based on evidence from previous research. We sequenced TM4SF19 and PAK2 in 437 SCZ cases, 187 ASD cases and 524 controls in the Japanese population. Through targeted sequencing, we identified 6 missense variants among the cases (ASD & SCZ), 3 missense variants among controls, and 1 variant common to both cases and controls; however, no loss-of-function variants were identified. Fisher's exact test showed a significant association of variants in TM4SF19 among cases (p=0.0160). These results suggest TM4SF19 variants affect the etiology of SCZ and ASD in the Japanese population. Further research examining 3q29 region genes and their association with SCZ and ASD is thus needed.

Keywords: 3q29; PAK2; TM4SF19; autism spectrum disorder; schizophrenia.

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Figures

Fig. 1
Fig. 1
Locations of novel rare variants in TM4SF19 and PAK2 *The protein structure of TM4SF19 and PAK2 is based on the Human Protein Reference Database. **Each head indicate location at protein, amino acid change and number of patients which found in. ***Each rectangular indicates domain region of protein. ASD: autism spectrum disorder SCZ: schizophrenia
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