当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > A genome-wide association study identifies two new risk loci for Graves' disease.

A genome-wide association study identifies two new risk loci for Graves' disease.

Abstract：

:Graves' disease is a common autoimmune disorder characterized by thyroid stimulating hormone receptor autoantibodies (TRAb) and hyperthyroidism. To investigate the genetic architecture of Graves' disease, we conducted a genome-wide association study in 1,536 individuals with Graves' disease (cases) and 1,516 controls. We further evaluated a group of associated SNPs in a second set of 3,994 cases and 3,510 controls. We confirmed four previously reported loci (in the major histocompatibility complex, TSHR, CTLA4 and FCRL3) and identified two new susceptibility loci (the RNASET2-FGFR1OP-CCR6 region at 6q27 (P(combined) = 6.85 × 10(-10) for rs9355610) and an intergenic region at 4p14 (P(combined) = 1.08 × 10(-13) for rs6832151)). These newly associated SNPs were correlated with the expression levels of RNASET2 at 6q27, of CHRNA9 and of a previously uncharacterized gene at 4p14, respectively. Moreover, we identified strong associations of TSHR and major histocompatibility complex class II variants with persistently TRAb-positive Graves' disease.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Chu X,Pan CM,Zhao SX,Liang J,Gao GQ,Zhang XM,Yuan GY,Li CG,Xue LQ,Shen M,Liu W,Xie F,Yang SY,Wang HF,Shi JY,Sun WW,Du WH,Zuo CL,Shi JX,Liu BL,Guo CC,Zhan M,Gu ZH,Zhang XN,Sun F,Wang ZQ,Song ZY,Zou CY

doi

10.1038/ng.898

subject

Has Abstract

pub_date

2011-08-14 00:00:00

pages

897-901

issue

9

eissn

1061-4036

issn

1546-1718

pii

ng.898

journal_volume

43

pub_type

杂志文章

相关文献

NATURE GENETICS文献大全
  • Intracontinental spread of human invasive Salmonella Typhimurium pathovariants in sub-Saharan Africa.

    abstract：:A highly invasive form of non-typhoidal Salmonella (iNTS) disease has recently been documented in many countries in sub-Saharan Africa. The most common Salmonella enterica serovar causing this disease is Typhimurium (Salmonella Typhimurium). We applied whole-genome sequence-based phylogenetic methods to define the pop...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2423

    authors： Okoro CK,Kingsley RA,Connor TR,Harris SR,Parry CM,Al-Mashhadani MN,Kariuki S,Msefula CL,Gordon MA,de Pinna E,Wain J,Heyderman RS,Obaro S,Alonso PL,Mandomando I,MacLennan CA,Tapia MD,Levine MM,Tennant SM,Parkhill J,

    更新日期：2012-11-01 00:00:00

  • Spontaneous X chromosome MI and MII nondisjunction events in Drosophila melanogaster oocytes have different recombinational histories.

    abstract：:Recent studies of human oocytes have demonstrated an enrichment for distal exchanges among meiosis I (MI) nondisjunction events and for proximal exchanges among meiosis II (MII) events. Our characterization of 103 cases of spontaneous X chromosome nondisjunction in Drosophila oocytes strongly parallels these observati...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1296-406

    authors： Koehler KE,Boulton CL,Collins HE,French RL,Herman KC,Lacefield SM,Madden LD,Schuetz CD,Hawley RS

    更新日期：1996-12-01 00:00:00

  • Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma.

    abstract：:Atopic or immunoglobulin E (IgE)-mediated diseases include the common disorders of asthma, atopic dermatitis and allergic rhinitis. Chromosome 13q14 shows consistent linkage to atopy and the total serum IgE concentration. We previously identified association between total serum IgE levels and a novel 13q14 microsatell...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1166

    authors： Zhang Y,Leaves NI,Anderson GG,Ponting CP,Broxholme J,Holt R,Edser P,Bhattacharyya S,Dunham A,Adcock IM,Pulleyn L,Barnes PJ,Harper JI,Abecasis G,Cardon L,White M,Burton J,Matthews L,Mott R,Ross M,Cox R,Moffatt MF

    更新日期：2003-06-01 00:00:00

  • Exome sequencing of geographically diverse barley landraces and wild relatives gives insights into environmental adaptation.

    abstract：:After domestication, during a process of widespread range extension, barley adapted to a broad spectrum of agricultural environments. To explore how the barley genome responded to the environmental challenges it encountered, we sequenced the exomes of a collection of 267 georeferenced landraces and wild accessions. A ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3612

    authors： Russell J,Mascher M,Dawson IK,Kyriakidis S,Calixto C,Freund F,Bayer M,Milne I,Marshall-Griffiths T,Heinen S,Hofstad A,Sharma R,Himmelbach A,Knauft M,van Zonneveld M,Brown JW,Schmid K,Kilian B,Muehlbauer GJ,Stein N,

    更新日期：2016-09-01 00:00:00

  • Candidate lung tumor susceptibility genes identified through whole-genome association analyses in inbred mice.

    abstract：:We performed a whole-genome association analysis of lung tumor susceptibility using dense SNP maps ( approximately 1 SNP per 20 kb) in inbred mice. We reproduced the pulmonary adenoma susceptibility 1 (Pas1) locus identified in previous linkage studies and further narrowed this quantitative trait locus (QTL) to a regi...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1849

    authors： Liu P,Wang Y,Vikis H,Maciag A,Wang D,Lu Y,Liu Y,You M

    更新日期：2006-08-01 00:00:00

  • Enabling direct fate conversion with network biology.

    abstract：:Current efforts in cellular disease modeling and regenerative medicine are limited by the paucity of cell types that can be generated in the laboratory. A new study introduces a computational framework, Mogrify, that uses network biology to predict combinations of transcription factors necessary for direct conversion ...

    journal_title：Nature genetics

    pub_type： 评论,新闻

    doi：10.1038/ng.3516

    authors： Cahan P

    更新日期：2016-03-01 00:00:00

  • Cultivated tomato clock runs slow.

    abstract：:The plant circadian clock is a complex network of genes crucial for plant survival. A new study finds that domestication gradually slowed down the circadian clock of tomato via selection on two major genes-one that delayed phasing of the clock with daylight, whereas the other induced a longer period. ...

    journal_title：Nature genetics

    pub_type： 评论,杂志文章

    doi：10.1038/ng.3476

    authors： Kay SA,Remigereau MS

    更新日期：2016-01-01 00:00:00

  • Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.

    abstract：:Hypertriglyceridemia is a hallmark of many disorders, including metabolic syndrome, diabetes, atherosclerosis and obesity. A well-known cause is the deficiency of lipoprotein lipase (LPL), a key enzyme in plasma triglyceride hydrolysis. Mice carrying the combined lipase deficiency (cld) mutation show severe hypertrigl...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2007.24

    authors： Péterfy M,Ben-Zeev O,Mao HZ,Weissglas-Volkov D,Aouizerat BE,Pullinger CR,Frost PH,Kane JP,Malloy MJ,Reue K,Pajukanta P,Doolittle MH

    更新日期：2007-12-01 00:00:00

  • Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

    abstract：:Jackson-Weiss syndrome is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome. FGFR2 is a member of the ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1194-275

    authors： Jabs EW,Li X,Scott AF,Meyers G,Chen W,Eccles M,Mao JI,Charnas LR,Jackson CE,Jaye M

    更新日期：1994-11-01 00:00:00

  • DNA methylation loss in late-replicating domains is linked to mitotic cell division.

    abstract：:DNA methylation loss occurs frequently in cancer genomes, primarily within lamina-associated, late-replicating regions termed partially methylated domains (PMDs). We profiled 39 diverse primary tumors and 8 matched adjacent tissues using whole-genome bisulfite sequencing (WGBS) and analyzed them alongside 343 addition...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0073-4

    authors： Zhou W,Dinh HQ,Ramjan Z,Weisenberger DJ,Nicolet CM,Shen H,Laird PW,Berman BP

    更新日期：2018-04-01 00:00:00

  • nagie oko, encoding a MAGUK-family protein, is essential for cellular patterning of the retina.

    abstract：:A layered organization of cells is a common architectural feature of many neuronal formations. Mutations of the zebrafish gene nagie oko (nok) produce a severe disruption of retinal architecture, indicating a key role for this locus in neuronal patterning. We show that nok encodes a membrane-associated guanylate kinas...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng883

    authors： Wei X,Malicki J

    更新日期：2002-06-01 00:00:00

  • Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene.

    abstract：:Myotonic dystrophy (DM) results from the amplification of an unstable CTG repeat in the 3' untranslated region of a transcript encoding a putative serine/threonine kinase. We have analysed the amplification of the repeat and the steady state levels of the DM kinase (DMK) mRNA in tissues and cell lines from normal and ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0793-233

    authors： Sabouri LA,Mahadevan MS,Narang M,Lee DS,Surh LC,Korneluk RG

    更新日期：1993-07-01 00:00:00

  • Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

    abstract：:In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain" is the correct affiliation. The error has been corrected in the HTML and PDF versions of ...

    journal_title：Nature genetics

    pub_type： 杂志文章,已发布勘误

    doi：10.1038/s41588-019-0376-0

    authors： Verbitsky M,Westland R,Perez A,Kiryluk K,Liu Q,Krithivasan P,Mitrotti A,Fasel DA,Batourina E,Sampson MG,Bodria M,Werth M,Kao C,Martino J,Capone VP,Vivante A,Shril S,Kil BH,Marasa M,Zhang JY,Na YJ,Lim TY,Ahram

    更新日期：2019-04-01 00:00:00

  • Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.

    abstract：:UV-sensitive syndrome (UV(S)S) is a genodermatosis characterized by cutaneous photosensitivity without skin carcinoma. Despite mild clinical features, cells from individuals with UV(S)S, like Cockayne syndrome cells, are very UV sensitive and are deficient in transcription-coupled nucleotide-excision repair (TC-NER), ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2229

    authors： Nakazawa Y,Sasaki K,Mitsutake N,Matsuse M,Shimada M,Nardo T,Takahashi Y,Ohyama K,Ito K,Mishima H,Nomura M,Kinoshita A,Ono S,Takenaka K,Masuyama R,Kudo T,Slor H,Utani A,Tateishi S,Yamashita S,Stefanini M,Lehmann

    更新日期：2012-05-01 00:00:00

  • Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

    abstract：:Human cyclic haematopoiesis (cyclic neutropenia, MIM 162800) is an autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk fo...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/70544

    authors： Horwitz M,Benson KF,Person RE,Aprikyan AG,Dale DC

    更新日期：1999-12-01 00:00:00

  • A putative pheromone receptor gene expressed in human olfactory mucosa.

    abstract：:Pheromones elicit specific behavioural responses and physiological alterations in recipients of the same species. In mammals, these chemical signals are recognized within the nasal cavity by sensory neurons that express pheromone receptors. In rodents, these receptors are thought to be represented by two large multige...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/79124

    authors： Rodriguez I,Greer CA,Mok MY,Mombaerts P

    更新日期：2000-09-01 00:00:00

  • Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).

    abstract：:Copy number variations (CNVs) often include noncoding sequences and putative enhancers, but how these rearrangements induce disease is poorly understood. Here we investigate CNVs involving the regulatory landscape of IHH (encoding Indian hedgehog), which cause multiple, highly localized phenotypes including craniosyno...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3939

    authors： Will AJ,Cova G,Osterwalder M,Chan WL,Wittler L,Brieske N,Heinrich V,de Villartay JP,Vingron M,Klopocki E,Visel A,Lupiáñez DG,Mundlos S

    更新日期：2017-10-01 00:00:00

  • Mi-2 complex couples DNA methylation to chromatin remodelling and histone deacetylation.

    abstract：:Methylation of DNA at the dinucleotide CpG is essential for mammalian development and is correlated with stable transcriptional silencing. This transcriptional silencing has recently been linked at a molecular level to histone deacetylation through the demonstration of a physical association between histone deacetylas...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/12664

    authors： Wade PA,Gegonne A,Jones PL,Ballestar E,Aubry F,Wolffe AP

    更新日期：1999-09-01 00:00:00

  • Polycomb repressive complex PRC1 spatially constrains the mouse embryonic stem cell genome.

    abstract：:The Polycomb repressive complexes PRC1 and PRC2 maintain embryonic stem cell (ESC) pluripotency by silencing lineage-specifying developmental regulator genes. Emerging evidence suggests that Polycomb complexes act through controlling spatial genome organization. We show that PRC1 functions as a master regulator of mou...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3393

    authors： Schoenfelder S,Sugar R,Dimond A,Javierre BM,Armstrong H,Mifsud B,Dimitrova E,Matheson L,Tavares-Cadete F,Furlan-Magaril M,Segonds-Pichon A,Jurkowski W,Wingett SW,Tabbada K,Andrews S,Herman B,LeProust E,Osborne CS,Kose

    更新日期：2015-10-01 00:00:00

  • Identification of recurrent SMO and BRAF mutations in ameloblastomas.

    abstract：:Here we report the discovery of oncogenic mutations in the Hedgehog and mitogen-activated protein kinase (MAPK) pathways in over 80% of ameloblastomas, locally destructive odontogenic tumors of the jaw, by genomic analysis of archival material. Mutations in SMO (encoding Smoothened, SMO) are common in ameloblastomas o...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2986

    authors： Sweeney RT,McClary AC,Myers BR,Biscocho J,Neahring L,Kwei KA,Qu K,Gong X,Ng T,Jones CD,Varma S,Odegaard JI,Sugiyama T,Koyota S,Rubin BP,Troxell ML,Pelham RJ,Zehnder JL,Beachy PA,Pollack JR,West RB

    更新日期：2014-07-01 00:00:00

  • A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

    abstract：:The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with severe cholestatic liver disease from early infancy. A subgroup characterized by normal serum cholesterol and gamma-glutamyltranspeptidase (gammaGT) levels is genetically heterogeneous with loci on chromosomes 2q (PFIC2) a...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/3034

    authors： Strautnieks SS,Bull LN,Knisely AS,Kocoshis SA,Dahl N,Arnell H,Sokal E,Dahan K,Childs S,Ling V,Tanner MS,Kagalwalla AF,Németh A,Pawlowska J,Baker A,Mieli-Vergani G,Freimer NB,Gardiner RM,Thompson RJ

    更新日期：1998-11-01 00:00:00

  • Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci.

    abstract：:We report full-length draft de novo genome assemblies for 16 widely used inbred mouse strains and find extensive strain-specific haplotype variation. We identify and characterize 2,567 regions on the current mouse reference genome exhibiting the greatest sequence diversity. These regions are enriched for genes involve...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0223-8

    authors： Lilue J,Doran AG,Fiddes IT,Abrudan M,Armstrong J,Bennett R,Chow W,Collins J,Collins S,Czechanski A,Danecek P,Diekhans M,Dolle DD,Dunn M,Durbin R,Earl D,Ferguson-Smith A,Flicek P,Flint J,Frankish A,Fu B,Gerstein

    更新日期：2018-11-01 00:00:00

  • Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria.

    abstract：:Acute intermittent porphyria (AIP) is a human disease resulting from a dominantly inherited partial deficiency of the heme biosynthetic enzyme, porphobilinogen deaminase (PBGD). The frequency of the trait for AIP is 1/10,000 in most populations, but may be markedly higher (1/500) in psychiatric patients. The clinical ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0296-195

    authors： Lindberg RL,Porcher C,Grandchamp B,Ledermann B,Bürki K,Brandner S,Aguzzi A,Meyer UA

    更新日期：1996-02-01 00:00:00

  • Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk.

    abstract：:Key challenges for human genetics, precision medicine and evolutionary biology include deciphering the regulatory code of gene expression and understanding the transcriptional effects of genome variation. However, this is extremely difficult because of the enormous scale of the noncoding mutation space. We developed a...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0160-6

    authors： Zhou J,Theesfeld CL,Yao K,Chen KM,Wong AK,Troyanskaya OG

    更新日期：2018-08-01 00:00:00

  • Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

    abstract：:In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for Wei Zhao (Department of Biostatistics and Epidemiology, Perelman ...

    journal_title：Nature genetics

    pub_type： 杂志文章,已发布勘误

    doi：10.1038/s41588-018-0082-3

    authors： Turcot V,Lu Y,Highland HM,Schurmann C,Justice AE,Fine RS,Bradfield JP,Esko T,Giri A,Graff M,Guo X,Hendricks AE,Karaderi T,Lempradl A,Locke AE,Mahajan A,Marouli E,Sivapalaratnam S,Young KL,Alfred T,Feitosa MF,Mas

    更新日期：2018-05-01 00:00:00

  • Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin.

    abstract：:Follicular lymphoma (FL) and the GCB subtype of diffuse large B-cell lymphoma (DLBCL) derive from germinal center B cells. Targeted resequencing studies have revealed mutations in various genes encoding proteins in the NF-kappaB pathway that contribute to the activated B-cell (ABC) DLBCL subtype, but thus far few GCB-...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.518

    authors： Morin RD,Johnson NA,Severson TM,Mungall AJ,An J,Goya R,Paul JE,Boyle M,Woolcock BW,Kuchenbauer F,Yap D,Humphries RK,Griffith OL,Shah S,Zhu H,Kimbara M,Shashkin P,Charlot JF,Tcherpakov M,Corbett R,Tam A,Varhol R

    更新日期：2010-02-01 00:00:00

  • An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis.

    abstract：:Osteoarthritis is the most common form of human arthritis. We investigated the potential role of asporin, an extracellular matrix component expressed abundantly in the articular cartilage of individuals with osteoarthritis, in the pathogenesis of osteoarthritis. Here we report a significant association between a polym...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1496

    authors： Kizawa H,Kou I,Iida A,Sudo A,Miyamoto Y,Fukuda A,Mabuchi A,Kotani A,Kawakami A,Yamamoto S,Uchida A,Nakamura K,Notoya K,Nakamura Y,Ikegawa S

    更新日期：2005-02-01 00:00:00

  • Testing for genetic associations in arbitrarily structured populations.

    abstract：:We present a new statistical test of association between a trait and genetic markers, which we theoretically and practically prove to be robust to arbitrarily complex population structure. The statistical test involves a set of parameters that can be directly estimated from large-scale genotyping data, such as those m...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3244

    authors： Song M,Hao W,Storey JD

    更新日期：2015-05-01 00:00:00

  • Genomic analysis of Andamanese provides insights into ancient human migration into Asia and adaptation.

    abstract：:To shed light on the peopling of South Asia and the origins of the morphological adaptations found there, we analyzed whole-genome sequences from 10 Andamanese individuals and compared them with sequences for 60 individuals from mainland Indian populations with different ethnic histories and with publicly available da...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3621

    authors： Mondal M,Casals F,Xu T,Dall'Olio GM,Pybus M,Netea MG,Comas D,Laayouni H,Li Q,Majumder PP,Bertranpetit J

    更新日期：2016-09-01 00:00:00

  • Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.

    abstract：:All molybdoenzymes other than nitrogenase require molybdopterin as a metal-binding cofactor. Several genes necessary for the synthesis of the molybdenum cofactor (MoCo) have been characterized in bacteria and plants. The proteins encoded by the Escherichia coli genes moaA and moaC catalyse the first steps in MoCo synt...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/1706

    authors： Reiss J,Cohen N,Dorche C,Mandel H,Mendel RR,Stallmeyer B,Zabot MT,Dierks T

    更新日期：1998-09-01 00:00:00