Fine Mapping of Loci Linked to Autoimmune Thyroid Disease Identifies Novel Susceptibility Genes

被引:43
|
作者
Tomer, Yaron [1 ,4 ]
Hasham, Alia [1 ,4 ]
Davies, Terry F. [1 ,4 ]
Stefan, Mihaela [1 ,4 ]
Concepcion, Erlinda [1 ]
Keddache, Mehdi [2 ]
Greenberg, David A. [3 ]
机构
[1] Mt Sinai Sch Med, Div Endocrinol, Dept Med, New York, NY 10029 USA
[2] Cincinnati Childrens Hosp Med Ctr, Genome Ctr, Cincinnati, OH 45229 USA
[3] Columbia Univ, Div Stat Genet, New York, NY 10032 USA
[4] James J Peters Vet Affairs Med Ctr, Bronx, NY 10468 USA
来源
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 2013年 / 98卷 / 01期
基金
美国国家卫生研究院;
关键词
LINKAGE ANALYSIS; GRAVES-DISEASE; THYROGLOBULIN GENE; TSH RECEPTOR; ASSOCIATION; POLYMORPHISM; POPULATION; MECHANISMS; FAMILIES; JAPANESE;
D O I
10.1210/jc.2012-2408
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Context: Genetic factors play a major role in the etiology of autoimmune thyroid disease (AITD) including Graves' disease (GD) and Hashimoto's thyroiditis (HT). We have previously identified three loci on chromosomes 10q, 12q, and 14q that showed strong linkage with AITD, HT, and GD, respectively. Objectives: The objective of the study was to identify the AITD susceptibility genes at the 10q, 12q, and 14q loci. Design and Participants: Three hundred forty North American Caucasian AITD patients and 183 healthy controls were studied. The 10q, 12q, and 14q loci were fine mapped by genotyping densely spaced single-nucleotide polymorphisms (SNPs) using the Illumina GoldenGate genotyping platform. Case control association analyses were performed using the UNPHASED computer package. Associated SNPs were reanalyzed in a replication set consisting of 238 AITD patients and 276 controls. Results: Fine mapping of the AITD locus, 10q, showed replicated association of the AITD phenotype (both GD and HT) with SNP rs6479778. This SNP was located within the ARID5B gene recently reported to be associated with rheumatoid arthritis and GD in Japanese. Fine mapping of the GD locus, 14q, revealed replicated association of the GD phenotype with two markers, rs12147587 and rs2284720, located within the NRXN3 and TSHR genes, respectively. Conclusions: Fine mapping of three linked loci identified novel susceptibility genes for AITD. The discoveries of new AITD susceptibility genes will engender a new understanding of AITD etiology. (J Clin Endocrinol Metab 98: E144-E152, 2013)
引用
收藏
页码:E144 / E152
页数:9
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