An association study between the transthyretin (TTR) gene and mental retardation

doi:10.1007/s00406-005-0630-6

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	An association study between the transthyretin (TTR) gene and mental retardation
	Li, Jun ; Gao, Jian-Jun ; Zhang, Fu-Chang ; Xing, Qing-He ; Dang, Fang-Li ; Gao, Xiao-Cai ; Duan, Shi-Wei ; Zheng, Zi-Jian ; Qian, Xue-Qing ; Qin, Wei
刊名	EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE
	2006-06
卷号	256 期号:4 页码:230-235
关键词	transthyretin (TTR) gene mental retardation polymorphism haplotype
ISSN号	0940-1334
DOI	10.1007/s00406-005-0630-6
英文摘要	It is known that in the pathogenesis of mental retardation (MR), both genetic and environmental factors (particularly iodine deficiency) appear to play a critical role. Transthyretin (TTR) transports between 20% and 30% of serum thyroxine in normal individuals and it is the main T-4-binding protein in CSF. Variability in the TTR gene may influence risk for iodine-deficiency-based MR. The SNPs we selected from dbSNP were detected and identified using ARMS-PCR and sequencing methods, and we identified five novel sequence variants. Singular-locus association analysis indicated no association between the TTR gene and MR. In haplotype analysis, however, we found a haplotype CGTG+ (rs723744/G+6649C/T+6690C/rs2276382/del9) showed a weak positive association with MR (chi(2) = 6.699, p = 0.035). Finally, we concluded that the weak positive result is more likely to be due to sampling error and the small size of this haplotype resulting from its relative low frequency. Our negative results provide no evidence that variants of TTR gene influence susceptibility to MR in the iodine-deficient areas of China and suggest that there may be a compensatory mechanism(s) in humans and mice, which work(s) to compensate the effect of mutation in the TTR gene on MR.
WOS研究方向	Neurosciences & Neurology ; Psychiatry
语种	英语
出版者	SPRINGER HEIDELBERG
WOS记录号	WOS:000238684500006
内容类型	期刊论文
源URL	[http://10.2.47.112/handle/2XS4QKH4/2641]
专题	上海财经大学
通讯作者	He, Lin
作者单位	1.Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Nutr Sci, Shanghai 200031, Peoples R China; 2.Shanghai Jiao Tong Univ, Bio X Ctr, Shanghai 200030, Peoples R China; 3.NW Univ Xian, Inst Populat & Hlth, Xian 710069, Peoples R China; 4.Shanghai Univ Finance & Econ, Shanghai 200433, Peoples R China; 5.Chinese Acad Med Sci, Inst Biomed Engn, Beijing 100730, Peoples R China; 6.Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R China; 7.Univ Aberdeen, Sch Med, Dept Mental Hlth, Aberdeen AB25 2ZD, Scotland
推荐引用方式 GB/T 7714	Li, Jun,Gao, Jian-Jun,Zhang, Fu-Chang,et al. An association study between the transthyretin (TTR) gene and mental retardation[J]. EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE,2006,256(4):230-235.
APA	Li, Jun.,Gao, Jian-Jun.,Zhang, Fu-Chang.,Xing, Qing-He.,Dang, Fang-Li.,...&He, Lin.(2006).An association study between the transthyretin (TTR) gene and mental retardation.EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE,256(4),230-235.
MLA	Li, Jun,et al."An association study between the transthyretin (TTR) gene and mental retardation".EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE 256.4(2006):230-235.