Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3

被引：32

作者：

Cheung, Ching-Lung ^{[1
,2
]}

Lau, Kam-Shing ^{[1
]}

Ho, Andrew Y. Y. ^{[3
]}

Lee, Ka-Kui ^{[1
]}

Tiu, Sau-Cheung ^{[4
]}

Lau, Emmy Y. F. ^{[5
]}

Leung, Jenny ^{[6
,7
]}

Tsang, Man-Wo ^{[8
]}

Chan, Kin-Wah ^{[9
]}

Yeung, Chun-Yip ^{[5
]}

Woo, Yu-Cho ^{[6
,7
]}

Cheung, Elaine Y. N. ^{[8
]}

Hung, Victor H. F. ^{[9
]}

Pang, Ho-Kwong ^{[5
]}

Hung, Chi-Sang ^{[8
]}

Sham, Pak-Chung ^{[2
,10
,11
]}

Kung, Annie W. C. ^{[1
]}

机构：

[1] Univ Hong Kong, Queen Mary Hosp, Dept Med, Pokfulam, Hong Kong, Peoples R China

[2] Univ Hong Kong, Dept Psychiat, Pokfulam, Hong Kong, Peoples R China

[3] Tuen Mun Hosp, Dept Med & Geriatr, Hong Kong, Hong Kong, Peoples R China

[4] Queen Elizabeth Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

[5] Pamela Youde Nethersole Eastern Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

[6] Ruttonjee Hosp, Dept Med & Geriatr, Hong Kong, Hong Kong, Peoples R China

[7] Tang Shiu Kin Hosp, Dept Med & Geriatr, Hong Kong, Hong Kong, Peoples R China

[8] United Christian Hosp, Dept Med & Geriatr, Hong Kong, Hong Kong, Peoples R China

[9] Princess Margaret Hosp, Dept Med & Geriatr, Hong Kong, Hong Kong, Peoples R China

[10] Univ Hong Kong, Li Ka Shing LKS Fac Med, Ctr Genom Sci, Hong Kong, Hong Kong, Peoples R China

[11] Univ Hong Kong, LKS Fac Med, Res Ctr Heart Brain Hormone & Hlth Aging, Hong Kong, Hong Kong, Peoples R China

来源：

NATURE GENETICS | 2012年 / 44卷 / 09期

关键词：

RECTIFYING POTASSIUM CHANNELS; VISUALIZATION; KIR5.1; MAPS;

D O I：

10.1038/ng.2367

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Thyrotoxic periodic paralysis (TPP) is a potentially life-threatening complication of thyrotoxicosis. We conducted a genome-wide association study (GWAS) and a replication study with a total of 123 southern Chinese with TPP (cases) and 1,170 healthy controls and identified a susceptibility locus on chromosome 17q24.3 near KCNJ2 (rs312691: odds ratio (OR) = 3.3; Pmeta-analysis = 1.8 x 10(-14)). All subjects with TPP also had Graves' disease, and subsequent TPP versus Graves' disease comparison confirmed that the association at 17q24.3 was specific to TPP. The area under the curve (AUC) of rs312691 genotype for risk prediction of TPP in subjects with Graves' disease was 0.73. Expression quantitative trait locus (eQTL) analysis identified SNPs in the region flanking rs312691 (+/- 10 kb) that could potentially affect KCNJ2 expression (P = 0.0001). Our study has identified a susceptibility locus associated with TPP and provides insight into the causes of TPP.

引用

页码：1026 / +

页数：5

共 50 条

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Kam-Shing Lau
Andrew Y Y Ho
Ka-Kui Lee
Sau-Cheung Tiu
Emmy Y F Lau
Jenny Leung
Man-Wo Tsang
Kin-Wah Chan
Chun-Yip Yeung
Yu-Cho Woo
Elaine Y N Cheung
Victor H F Hung
Ho-Kwong Pang
Chi-Sang Hung
Pak-Chung Sham
Annie W C Kung
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