Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders
To determine the association between arginine vasopressin receptor 1A gene (AVPR1A)and autism spectrum disorders (ASDs), we examined 3 single nucleotide polymorphisms (SNPs), namely, rs7294536, rs3759292, and rs10877969, in the promoter region of AVPR1A by using a family-based association test (FBAT) in 151 Korean trios. Our results demonstrated a statistically significant association between autism and SNPs (additive model: rs7294536, chi(2)=9.328, df=2, P=0.002: rs10877969, chi(2)=11.529, df=2, P<0.001) as well as between autism and haplotype analysis (additive model: chi(2)=14.122, df=3,P=0.003). In addition, we found that ADI-R scores calculated by using a diagnostic algorithm for failure to develop peer relationships (A2) were higher in subjects having the AA genotype than in subjects having the AG and GG genotypes of rs7294536. Thus, our study provides evidence for a possible association between these SNPs and the phenotype of ASDs. (C) 2010 Elsevier Ireland Ltd. All rights reserved. ; This study was supported by grants from the Korea Healthcare Technology R&D Project, Ministry of Health &Welfare, Republic of Korea (A080651) and the Korea Research Foundation Grant funded by the Korean Government (MOEHRD, Basic Research Promotion Fund) (KRF-2008-331-C00226). ; Yang SY, 2010, PSYCHIAT RES, V178, P199, DOI 10.1016/j.psychres.2009.11.007 ; Nicholas JS, 2009, ANN EPIDEMIOL, V19, P808, DOI 10.1016/j.annepidem.2009.04.005 ; Levin R, 2009, PSYCHONEUROENDOCRINO, V34, P901, DOI 10.1016/j.psyneuen.2008.12.014 ; Baron-Cohen S, 2009, BRIT J PSYCHIAT, V194, P500, DOI 10.1192/bjp.bp.108.059345 ; Bora E, 2009, CURR OPIN PSYCHIATR, V22, P320, DOI 10.1097/YCO.0b013e328329e970 ; Yoo HJ, 2009, NEUROSCI RES, V63, P172, DOI 10.1016/j.neures.2008.11.007 ; Walum H, 2008, P NATL ACAD SCI USA, V105, P14153, DOI 10.1073/pnas.0803081105 ; Yoo HJ, 2008, NEUROSCI RES, V62, P66, DOI 10.1016/j.neures.2008.05.008 ; Chen J, 2008, EXP NEUROL, V211, P529, DOI 10.1016/j.expneurol.2008.02.023 ; Pardo CA, 2007, BRAIN PATHOL, V17, P434, DOI 10.1111/j.1750-3639.2007.00102.x ; Kim SA, 2007, NEUROSCI RES, V58, P332, DOI 10.1016/j.neures.2007.03.002 ; Ma DQ, 2007, MOL PSYCHIATR, V12, P376, DOI 10.1038/sj.mp.4001927 ; Cho IH, 2007, BRAIN RES, V1139, P34, DOI 10.1016/j.brainres.2007.01.002 ; YOO HJ, 2007, KOREAN VERSION AUTIS ; PRICHARD ZM, 2007, HUM MUTAT, V28, P1150 ; KNAFO A, 2007, GENES BRAIN BEHAV, V7, P266 ; Persico AM, 2006, TRENDS NEUROSCI, V29, P349, DOI 10.1016/j.tins.2006.05.010 ; Yirmiya N, 2006, MOL PSYCHIATR, V11, P488, DOI 10.1038/sj.mp.4001812 ; EGASHIRA N, 2006, NIHON SHINKEI SEISHI, V26, P101 ; Hammock EAD, 2005, GENES BRAIN BEHAV, V4, P289 ; Hammock EAD, 2005, SCIENCE, V308, P1630, DOI 10.1126/science.1111427 ; Wassink TH, 2004, MOL PSYCHIATR, V9, P968, DOI 10.1038/sj.mp.4001503 ; Kim SJ, 2002, MOL PSYCHIATR, V7, P503, DOI 10.1038/sj.mp.4001125 ; Chevaleyre V, 2002, J NEUROSCI, V22, P265 ; Folstein SE, 2001, NAT REV GENET, V2, P943 ; Son MC, 2001, NEUROBIOL LEARN MEM, V76, P388, DOI 10.1006/nlme.2001.4020 ; Horvath S, 2001, EUR J HUM GENET, V9, P301 ; Hurbin A, 1998, ENDOCRINOLOGY, V139, P4701 ; QIAO LY, 1998, ZHONGGUO YAO LI XUE, V19, P15 ; BAILEY A, 1995, PSYCHOL MED, V25, P63 ; *ASS AM PSYCH, 1994, DIAGN STAT MAN MENT ; VANDENHOOFF P, 1989, BRAIN RES, V505, P181 ; 3