Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders

So Young Yang; Soo Churl Cho; Hee Jeong Yoo; In Hee Cho; Mira Park; Boong Nyun Kim; Jae Won Kim; Min Sup Shin; Tae Won Park; Jung Woo Son; Un Sun Chung; Hyo Won Kim; Young Hui Yang; Je Ouk Kang; Soon Ae Kim

doi:10.1016/j.neulet.2010.05.050

Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders

So Young Yang
, Soo Churl Cho
, Hee Jeong Yoo
, In Hee Cho
, Mira Park
, Boong Nyun Kim
, Jae Won Kim
, Min Sup Shin
, Tae Won Park
, Jung Woo Son
, Un Sun Chung
, Hyo Won Kim
, Young Hui Yang
, Je Ouk Kang
, Soon Ae Kim^*

^*Corresponding author for this work

Department of Medicine

Eulji University
Seoul National University
Gachon University
Chungbuk National University
Kyungpook National University

Research output: Contribution to journal › Journal article › peer-review

41 Scopus citations

Abstract

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, χ²=9.328, df=2, P=0.002; rs10877969, χ²=11.529, df=2, P<0.001) as well as between autism and haplotype analysis (additive model: χ²=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.

Original language	English
Pages (from-to)	197-200
Number of pages	4
Journal	Neuroscience Letters
Volume	479
Issue number	3
DOIs	https://doi.org/10.1016/j.neulet.2010.05.050
State	Published - 2010.08

Keywords

Arginine vasopressin receptor 1A (AVPR1A)
Autism spectrum disorders (ASD)
Family-base association study
Single nucleotide polymorphisms (SNPs)

Quacquarelli Symonds(QS) Subject Topics

Medicine

Access to Document

10.1016/j.neulet.2010.05.050

Cite this

Yang, S. Y., Cho, S. C., Yoo, H. J., Cho, I. H., Park, M., Kim, B. N., Kim, J. W., Shin, M. S., Park, T. W., Son, J. W., Chung, U. S., Kim, H. W., Yang, Y. H., Kang, J. O., & Kim, S. A. (2010). Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders. Neuroscience Letters, 479(3), 197-200. https://doi.org/10.1016/j.neulet.2010.05.050

@article{3ed21aee1693470784a3423f9890c79b,

title = "Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders",

abstract = "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, χ2=9.328, df=2, P=0.002; rs10877969, χ2=11.529, df=2, P<0.001) as well as between autism and haplotype analysis (additive model: χ2=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.",

keywords = "Arginine vasopressin receptor 1A (AVPR1A), Autism spectrum disorders (ASD), Family-base association study, Single nucleotide polymorphisms (SNPs)",

author = "Yang, \{So Young\} and Cho, \{Soo Churl\} and Yoo, \{Hee Jeong\} and Cho, \{In Hee\} and Mira Park and Kim, \{Boong Nyun\} and Kim, \{Jae Won\} and Shin, \{Min Sup\} and Park, \{Tae Won\} and Son, \{Jung Woo\} and Chung, \{Un Sun\} and Kim, \{Hyo Won\} and Yang, \{Young Hui\} and Kang, \{Je Ouk\} and Kim, \{Soon Ae\}",

year = "2010",

month = aug,

doi = "10.1016/j.neulet.2010.05.050",

language = "English",

volume = "479",

pages = "197--200",

journal = "Neuroscience Letters",

issn = "0304-3940",

number = "3",

}

Yang, SY, Cho, SC, Yoo, HJ, Cho, IH, Park, M, Kim, BN, Kim, JW, Shin, MS, Park, TW, Son, JW, Chung, US, Kim, HW, Yang, YH, Kang, JO & Kim, SA 2010, 'Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders', Neuroscience Letters, vol. 479, no. 3, pp. 197-200. https://doi.org/10.1016/j.neulet.2010.05.050

TY - JOUR

T1 - Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders

AU - Yang, So Young

AU - Cho, Soo Churl

AU - Yoo, Hee Jeong

AU - Cho, In Hee

AU - Park, Mira

AU - Kim, Boong Nyun

AU - Kim, Jae Won

AU - Shin, Min Sup

AU - Park, Tae Won

AU - Son, Jung Woo

AU - Chung, Un Sun

AU - Kim, Hyo Won

AU - Yang, Young Hui

AU - Kang, Je Ouk

AU - Kim, Soon Ae

PY - 2010/8

Y1 - 2010/8

N2 - 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, χ2=9.328, df=2, P=0.002; rs10877969, χ2=11.529, df=2, P<0.001) as well as between autism and haplotype analysis (additive model: χ2=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.

AB - 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, χ2=9.328, df=2, P=0.002; rs10877969, χ2=11.529, df=2, P<0.001) as well as between autism and haplotype analysis (additive model: χ2=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.

KW - Arginine vasopressin receptor 1A (AVPR1A)

KW - Autism spectrum disorders (ASD)

KW - Family-base association study

KW - Single nucleotide polymorphisms (SNPs)

UR - https://www.scopus.com/pages/publications/77954143958

U2 - 10.1016/j.neulet.2010.05.050

DO - 10.1016/j.neulet.2010.05.050

M3 - Journal article

C2 - 20546835

AN - SCOPUS:77954143958

SN - 0304-3940

VL - 479

SP - 197

EP - 200

JO - Neuroscience Letters

JF - Neuroscience Letters

IS - 3

ER -

Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders

Abstract

Keywords

Quacquarelli Symonds(QS) Subject Topics

Access to Document

Other files and links

Fingerprint

Cite this