title: Study of HOXD genes in autism particularly regarding the ratio of second to fourth digit length.
abstract: Multiple genes are involved in the pathogenesis of autism. To study the causative gene, the relationship between autism endophenotypes and their closely related genes has been analyzed. There is a subgroup of autism spectrum disorder (ASD) in which the ratio of second digit length to fourth digit length (2D/4D) is low (short digit group, SDG). We studied the relationship between ASD and HOXD genes, which are located in the candidate locus for ASD and are associated with digit morphogenesis, with a particular focus on SDG. We analyzed 25 SNPs of HOXD11, HOXD12, and HOXD13 in the subject of 98 ASD, 89 healthy controls, and 16 non-autistic patients (non-ASD). There was no significant difference in the genotype frequencies between the ASD and the healthy controls. However, the G-112T heterozygote in the promoter region of HOXD11 was observed in only four patients with ASD and in none of the healthy controls or non-ASD subjects. Moreover, this HOXD11 G-112T was observed in three of 11 SDG with ASD but in none of the 15 non-SDG patients with ASD. There were eight SDG patients among the non-ASD ones, but this polymorphism was observed in none of them. Considering the above results, it is expected that candidate genes will be further identified, using HOXD11 G-112T polymorphism as a marker, by analyzing genes located near 2q in a larger number of ASD subjects with clinical signs of SDG.
authors.affiliation: Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan. y-sugie@umin.ac.jp
authors.forename: Yoko
authors.initials: Y
authors.lastname: Sugie
authors.forename: Hideo
authors.initials: H
authors.lastname: Sugie
authors.forename: Tokiko
authors.initials: T
authors.lastname: Fukuda
authors.forename: Junko
authors.initials: J
authors.lastname: Osawa
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005385:Fingers / Q000033:anatomy & histology*; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D009024:Morphogenesis / Q000502:physiology; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
chemical_list: C489493:HOXD11 protein, human; C550239:HOXD12 protein, human; C513184:HOXD13 protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors