title: Ras-like without CAAX 2 (RIT2): a susceptibility gene for autism spectrum disorder.
abstract: Ras-like without CAAX2 (RIT2) which encodes a GTP-binding protein has recently been reported as a new susceptibility gene for Autism Spectrum Disorders (ASD) in a genome-wide association study. Since the gene is suggested to be involved in the pathogenesis of different neurological diseases, we investigated the association of two single nucleotide polymorphisms (SNP) rs16976358 and rs4130047 of this gene with ASD in Iranian patients. A total of 1004 individuals, comprising 532 ASD cases and 472 healthy subjects participated in this study. Allele frequency analyses showed significant over-presentation of rs16976358-C allele in cases versus controls (P < 0.0001). In addition, rs16976358 CC genotype (OR (95% CI) =3.57(1.72-7.69) and P < 0.0001) and rs4130047 CC genotype (OR (95% CI) =0.64(0.43-0.97) and P = 0.035) were associated with ASD in recessive inheritance model. Besides, haplotype analysis demonstrated an association between the C/T haplotype block (rs16976358/rs4130047) and ASD (OR (95%CI) = 0.44 (0.31-0.62), P < 0.0001). Altogether, our findings provided additional confirmation for the RIT2 gene participation in ASD risk and suggested the rs16976358 variant as a possible genetic risk factor for this disorder.
authors.affiliation: Department of Biology, Islamic Azad University, Central Tehran Branch, Tehran, Iran.
authors.forename: Shima Yazdandoost
authors.initials: SY
authors.lastname: Hamedani
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, 8th Floor, SBUMS Bldg., Next to Ayatollah Taleghani Hospital, Evin, Tehran, 198396-3113, Iran.|Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
authors.forename: Jalal
authors.initials: J
authors.lastname: Gharesouran
authors.affiliation: Young Researchers and Elite Club, Ahvaz Branch, Islamic Azad University, Ahvaz, Iran.
authors.forename: Rezvan
authors.initials: R
authors.lastname: Noroozi
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, 8th Floor, SBUMS Bldg., Next to Ayatollah Taleghani Hospital, Evin, Tehran, 198396-3113, Iran.
authors.forename: Arezou
authors.initials: A
authors.lastname: Sayad
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, 8th Floor, SBUMS Bldg., Next to Ayatollah Taleghani Hospital, Evin, Tehran, 198396-3113, Iran.|Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mir Davood
authors.initials: MD
authors.lastname: Omrani
authors.affiliation: Department of Biology, Faculty of Sciences, University of Sistan and Balouchestan, Zahedan, Iran.
authors.forename: Atefeh
authors.initials: A
authors.lastname: Mir
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, 8th Floor, SBUMS Bldg., Next to Ayatollah Taleghani Hospital, Evin, Tehran, 198396-3113, Iran.
authors.forename: Sarah Sadat Aghabozrg
authors.initials: SSA
authors.lastname: Afjeh
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, 8th Floor, SBUMS Bldg., Next to Ayatollah Taleghani Hospital, Evin, Tehran, 198396-3113, Iran.
authors.forename: Mehdi
authors.initials: M
authors.lastname: Toghi
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, 8th Floor, SBUMS Bldg., Next to Ayatollah Taleghani Hospital, Evin, Tehran, 198396-3113, Iran.
authors.forename: Saba
authors.initials: S
authors.lastname: Manoochehrabadi
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, 8th Floor, SBUMS Bldg., Next to Ayatollah Taleghani Hospital, Evin, Tehran, 198396-3113, Iran.
authors.forename: Soudeh
authors.initials: S
authors.lastname: Ghafouri-Fard
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, 8th Floor, SBUMS Bldg., Next to Ayatollah Taleghani Hospital, Evin, Tehran, 198396-3113, Iran. Mohammad_823@yahoo.com.|Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Mohammad_823@yahoo.com.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Taheri
mesh_terms: D000293:Adolescent; D000067877:Autism Spectrum Disorder / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D020559:Monomeric GTP-Binding Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D020559:Monomeric GTP-Binding Proteins; C583559:RiT2 protein, human
keywords: Autism Spectrum disorder; Neurodevelopmental disorder; RIT2