Young Jong Kim1, Jin Kyung Park2, Won Sub Kang3, Su Kang Kim4, Hae Jeong Park5, Min Nam6, Jong Woo Kim7. 1. a Young Jong Kim, Department of Neuropsychiatry , School of Medicine, Kyung Hee University , Seoul 130-701 , Republic of Korea. 2. b Jin Kyung Park, Department of Neuropsychiatry , School of Medicine, Kyung Hee University , Seoul 130-701 , Republic of Korea. 3. c Won Sub Kang, Department of Neuropsychiatry , School of Medicine, Kyung Hee University , Seoul 130-701 , Republic of Korea. 4. d Su Kang Kim, Kohwang Medical Research Institute, School of Medicine, Kyung Hee University , Seoul 130-701 , Republic of Korea. 5. e Hae Jeong Park, Kohwang Medical Research Institute, School of Medicine, Kyung Hee University , Seoul 130-701 , Republic of Korea. 6. f Min Nam, Seoul Metropolitan Eunpyeong Hospital , 90 Baeknyeonsan-ro, Eunpyeong-gu, Seoul 122-913, Republic of Korea. 7. g Jong Woo Kim, Department of Neuropsychiatry , School of Medicine, Kyung Hee University , Seoul 130-701 , Republic of Korea.
Abstract
BACKGROUND: LAMB1 encodes laminin beta-1, which is expressed during early development of the human nervous system, and could be involved in the pathogenesis of neurodevelopmental disorders. AIMS: In our study, we aimed to investigate whether single nucleotide polymorphisms (SNPs) in LAMB1 were associated with autism spectrum disorder (ASD) and with related clinical severities of ASD. METHODS: Two coding SNPs (rs20556 and rs25659) and two intronic SNPs (rs2158836 and rs2237659) were compared between 180 patients with ASD and 147 healthy control subjects using direct sequencing. The Korean version of the Childhood Autism Rating Scale (K-CARS) was used to assess clinical severities. Multiple logistic regression models were employed to analyze genetic data, and associations with symptom severity were tested with the Kruskal-Wallis and the Mann-Whitney U tests. RESULTS: None of the four examined SNPs was associated with ASD risk. However, the GG genotype of rs2158836 was associated with more severe symptoms for the "object use" and "non-verbal communication" measures. CONCLUSIONS: The results of our study suggest the association between rs2158836 polymorphisms and symptom severity in ASD.
BACKGROUND:LAMB1 encodes laminin beta-1, which is expressed during early development of the human nervous system, and could be involved in the pathogenesis of neurodevelopmental disorders. AIMS: In our study, we aimed to investigate whether single nucleotide polymorphisms (SNPs) in LAMB1 were associated with autism spectrum disorder (ASD) and with related clinical severities of ASD. METHODS: Two coding SNPs (rs20556 and rs25659) and two intronic SNPs (rs2158836 and rs2237659) were compared between 180 patients with ASD and 147 healthy control subjects using direct sequencing. The Korean version of the Childhood Autism Rating Scale (K-CARS) was used to assess clinical severities. Multiple logistic regression models were employed to analyze genetic data, and associations with symptom severity were tested with the Kruskal-Wallis and the Mann-Whitney U tests. RESULTS: None of the four examined SNPs was associated with ASD risk. However, the GG genotype of rs2158836 was associated with more severe symptoms for the "object use" and "non-verbal communication" measures. CONCLUSIONS: The results of our study suggest the association between rs2158836 polymorphisms and symptom severity in ASD.
Authors: Kwang Man Park; Hong Jae Lee; Ki-Tae Koo; Heithem Ben Amara; Richard Leesungbok; Kwantae Noh; Sang Cheon Lee; Suk Won Lee Journal: Tissue Eng Regen Med Date: 2020-01-22 Impact factor: 4.169