Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.

abstract：:The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify novel risk loci and likely causal genes, we performed a transcriptome-wide association study ev...

journal_title：Nature genetics

authors： Wu L,Shi W,Long J,Guo X,Michailidou K,Beesley J,Bolla MK,Shu XO,Lu Y,Cai Q,Al-Ejeh F,Rozali E,Wang Q,Dennis J,Li B,Zeng C,Feng H,Gusev A,Barfield RT,Andrulis IL,Anton-Culver H,Arndt V,Aronson KJ,Auer PL,Ba

更新日期：2018-07-01 00:00:00

abstract：:To identify genetic markers for laryngeal squamous cell carcinoma (LSCC), we conducted a genome-wide association study (GWAS) on 993 individuals with LSCC (cases) and 1,995 cancer-free controls from Chinese populations. The most promising variants (association P < 1 × 10(-5)) were then replicated in 3 independent sets...

journal_title：Nature genetics

authors： Wei Q,Yu D,Liu M,Wang M,Zhao M,Liu M,Jia W,Ma H,Fang J,Xu W,Chen K,Xu Z,Wang J,Tian L,Yuan H,Chang J,Hu Z,Wei L,Huang Y,Han Y,Liu J,Han D,Shen H,Yang S,Zheng H,Ji Q,Li D,Tan W,Wu C,Lin D

更新日期：2014-10-01 00:00:00

abstract：:Because only a small fraction of asbestos-exposed individuals develop malignant mesothelioma, and because mesothelioma clustering is observed in some families, we searched for genetic predisposing factors. We discovered germline mutations in the gene encoding BRCA1 associated protein-1 (BAP1) in two families with a hi...

journal_title：Nature genetics

authors： Testa JR,Cheung M,Pei J,Below JE,Tan Y,Sementino E,Cox NJ,Dogan AU,Pass HI,Trusa S,Hesdorffer M,Nasu M,Powers A,Rivera Z,Comertpay S,Tanji M,Gaudino G,Yang H,Carbone M

更新日期：2011-08-28 00:00:00

abstract：:Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals. Here we report the identification of two mutations (93delG and 166C-->T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis. ...

journal_title：Nature genetics

authors： Roetto A,Papanikolaou G,Politou M,Alberti F,Girelli D,Christakis J,Loukopoulos D,Camaschella C

更新日期：2003-01-01 00:00:00

abstract：:Interindividual variability in drug response, ranging from no therapeutic benefit to life-threatening adverse reactions, is influenced by variation in genes that control the absorption, distribution, metabolism and excretion of drugs. We genotyped 904 single-nucleotide polymorphisms (SNPs) from 55 such genes in two po...

journal_title：Nature genetics

authors： Ahmadi KR,Weale ME,Xue ZY,Soranzo N,Yarnall DP,Briley JD,Maruyama Y,Kobayashi M,Wood NW,Spurr NK,Burns DK,Roses AD,Saunders AM,Goldstein DB

更新日期：2005-01-01 00:00:00

abstract：:Genome-wide association studies have identified several risk associations for ovarian carcinomas but not for mucinous ovarian carcinomas (MOCs). Our analysis of 1,644 MOC cases and 21,693 controls with imputation identified 3 new risk associations: rs752590 at 2q13 (P = 3.3 × 10(-8)), rs711830 at 2q31.1 (P = 7.5 × 10(...

journal_title：Nature genetics

authors： Kelemen LE,Lawrenson K,Tyrer J,Li Q,Lee JM,Seo JH,Phelan CM,Beesley J,Chen X,Spindler TJ,Aben KK,Anton-Culver H,Antonenkova N,Australian Cancer Study.,Australian Ovarian Cancer Study Group.,Ovarian Cancer Association Consor

更新日期：2015-08-01 00:00:00

abstract：:Elucidating how and to what extent CpG islands (CGIs) are methylated in germ cells is essential to understand genomic imprinting and epigenetic reprogramming. Here we present, to our knowledge, the first integrated epigenomic analysis of mammalian oocytes, identifying over a thousand CGIs methylated in mature oocytes....

journal_title：Nature genetics

authors： Smallwood SA,Tomizawa S,Krueger F,Ruf N,Carli N,Segonds-Pichon A,Sato S,Hata K,Andrews SR,Kelsey G

更新日期：2011-06-26 00:00:00

abstract：:Here we ask the question "How much information do epigenomic datasets provide about human genomic function?" We consider nine epigenomic features across 115 cell types and measure information about function as a reduction in entropy under a probabilistic evolutionary model fitted to human and nonhuman primate genomes....

journal_title：Nature genetics

authors： Gulko B,Siepel A

更新日期：2019-02-01 00:00:00

abstract：:We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, s...

journal_title：Nature genetics

authors： Smith FJ,Eady RA,Leigh IM,McMillan JR,Rugg EL,Kelsell DP,Bryant SP,Spurr NK,Geddes JF,Kirtschig G,Milana G,de Bono AG,Owaribe K,Wiche G,Pulkkinen L,Uitto J,McLean WH,Lane EB

更新日期：1996-08-01 00:00:00

abstract：:Oligonucleotide microarray (DNA chip)-based hybridization analysis is a promising new technology which potentially allows rapid and cost-effective screens for all possible mutations and sequence variations in genomic DNA. Here, I review current strategies and uses for DNA chip-based resequencing and mutational analysi...

journal_title：Nature genetics

authors： Hacia JG

更新日期：1999-01-01 00:00:00

abstract：:Crouzon syndrome is an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis) and maps to chromosome 10q25-q26. We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome. We found SSCP variations in the B exon of FGFR2...

journal_title：Nature genetics

authors： Reardon W,Winter RM,Rutland P,Pulleyn LJ,Jones BM,Malcolm S

更新日期：1994-09-01 00:00:00

abstract：:Whipworms are common soil-transmitted helminths that cause debilitating chronic infections in man. These nematodes are only distantly related to Caenorhabditis elegans and have evolved to occupy an unusual niche, tunneling through epithelial cells of the large intestine. We report here the whole-genome sequences of th...

journal_title：Nature genetics

authors： Foth BJ,Tsai IJ,Reid AJ,Bancroft AJ,Nichol S,Tracey A,Holroyd N,Cotton JA,Stanley EJ,Zarowiecki M,Liu JZ,Huckvale T,Cooper PJ,Grencis RK,Berriman M

更新日期：2014-07-01 00:00:00

abstract：:The ratio of X-linked to autosomal diversity was estimated from an analysis of six human genome sequences and found to deviate from the expected value of 0.75. However, the direction of this deviation depends on whether a particular sequence is close to or far from the nearest gene. This pattern may be explained by st...

journal_title：Nature genetics

authors： Hammer MF,Woerner AE,Mendez FL,Watkins JC,Cox MP,Wall JD

更新日期：2010-10-01 00:00:00

abstract：:There is increasing evidence that epigenetic information can be inherited across generations in mammals, despite extensive reprogramming both in the gametes and in the early developing embryo. One corollary to this is that disrupting the establishment of epigenetic state in the gametes of a parent, as a result of hete...

journal_title：Nature genetics

authors： Chong S,Vickaryous N,Ashe A,Zamudio N,Youngson N,Hemley S,Stopka T,Skoultchi A,Matthews J,Scott HS,de Kretser D,O'Bryan M,Blewitt M,Whitelaw E

更新日期：2007-05-01 00:00:00

abstract：:Through whole-genome sequencing of 2,230 Icelanders, we detected a rare nonsynonymous SNP (minor allele frequency = 0.55%) in the C3 gene encoding a p.Lys155Gln substitution in complement factor 3, which, following imputation into a set of Icelandic cases with age-related macular degeneration (AMD) and controls, assoc...

journal_title：Nature genetics

authors： Helgason H,Sulem P,Duvvari MR,Luo H,Thorleifsson G,Stefansson H,Jonsdottir I,Masson G,Gudbjartsson DF,Walters GB,Magnusson OT,Kong A,Rafnar T,Kiemeney LA,Schoenmaker-Koller FE,Zhao L,Boon CJ,Song Y,Fauser S,Pei M,

更新日期：2013-11-01 00:00:00

abstract：:The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human disorder, usually associated with deletions of chromosome 22q11. The genetic basis for the wide range of developmental anomalies in the heart, glands and facial structures has been elusive. We have investigated the potential role of one can...

journal_title：Nature genetics

authors： Jerome LA,Papaioannou VE

更新日期：2001-03-01 00:00:00

abstract：:The 17q21.31 inversion polymorphism exists either as direct (H1) or inverted (H2) haplotypes with differential predispositions to disease and selection. We investigated its genetic diversity in 2,700 individuals, with an emphasis on African populations. We characterize eight structural haplotypes due to complex rearra...

journal_title：Nature genetics

authors： Steinberg KM,Antonacci F,Sudmant PH,Kidd JM,Campbell CD,Vives L,Malig M,Scheinfeldt L,Beggs W,Ibrahim M,Lema G,Nyambo TB,Omar SA,Bodo JM,Froment A,Donnelly MP,Kidd KK,Tishkoff SA,Eichler EE

更新日期：2012-07-01 00:00:00

abstract：:Immunotherapy for metastatic colorectal cancer is effective only for mismatch repair-deficient tumors with high microsatellite instability that demonstrate immune infiltration, suggesting that tumor cells can determine their immune microenvironment. To understand this cross-talk, we analyzed the transcriptome of 91,10...

journal_title：Nature genetics

authors： Lee HO,Hong Y,Etlioglu HE,Cho YB,Pomella V,Van den Bosch B,Vanhecke J,Verbandt S,Hong H,Min JW,Kim N,Eum HH,Qian J,Boeckx B,Lambrechts D,Tsantoulis P,De Hertogh G,Chung W,Lee T,An M,Shin HT,Joung JG,Jung MH,

更新日期：2020-06-01 00:00:00

abstract：:Gastric cancer is classified into intestinal and diffuse types, the latter including a highly malignant form, linitis plastica. A two-stage genome-wide association study (stage 1: 85,576 SNPs on 188 cases and 752 references; stage 2: 2,753 SNPs on 749 cases and 750 controls) in Japan identified a significant associati...

journal_title：Nature genetics

authors： Study Group of Millennium Genome Project for Cancer.,Sakamoto H,Yoshimura K,Saeki N,Katai H,Shimoda T,Matsuno Y,Saito D,Sugimura H,Tanioka F,Kato S,Matsukura N,Matsuda N,Nakamura T,Hyodo I,Nishina T,Yasui W,Hirose H,H

更新日期：2008-06-01 00:00:00

abstract：:Friedreich's ataxia is due to loss of function mutations in the gene encoding frataxin (FRDA). Frataxin is a protein of unknown function. In situ hybridization analyses revealed that mouse frataxin expression correlates well with the main site of neurodegeneration, but the expression pattern is broader than expected f...

journal_title：Nature genetics

authors： Koutnikova H,Campuzano V,Foury F,Dollé P,Cazzalini O,Koenig M

更新日期：1997-08-01 00:00:00

abstract：:Advances in sequencing technologies have enabled the identification of mutations acquired by bacterial pathogens during infection. However, it remains unclear whether adaptive mutations fix in the population or lead to pathogen diversification within the patient. Here we study the genotypic diversity of Burkholderia d...

journal_title：Nature genetics

authors： Lieberman TD,Flett KB,Yelin I,Martin TR,McAdam AJ,Priebe GP,Kishony R

更新日期：2014-01-01 00:00:00

abstract：:Many individuals with multiple or large colorectal adenomas or early-onset colorectal cancer (CRC) have no detectable germline mutations in the known cancer predisposition genes. Using whole-genome sequencing, supplemented by linkage and association analysis, we identified specific heterozygous POLE or POLD1 germline ...

journal_title：Nature genetics

authors： Palles C,Cazier JB,Howarth KM,Domingo E,Jones AM,Broderick P,Kemp Z,Spain SL,Guarino E,Salguero I,Sherborne A,Chubb D,Carvajal-Carmona LG,Ma Y,Kaur K,Dobbins S,Barclay E,Gorman M,Martin L,Kovac MB,Humphray S,COR

更新日期：2013-02-01 00:00:00

abstract：:Cervical carcinoma is now known to be associated with human papillomaviruses (HPV), but the evidence for a link with specific HLA loci is controversial. The role of genetic variation at the HLA class II loci and among HPV types in cervical carcinoma was investigated by PCR DNA amplification and oligonucleotide probe t...

journal_title：Nature genetics

authors： Apple RJ,Erlich HA,Klitz W,Manos MM,Becker TM,Wheeler CM

更新日期：1994-02-01 00:00:00

abstract：:In the version of this article initially published, '+' and '-' labels were missing from the graph keys at the bottom of Fig. 8d. The error has been corrected in the HTML and PDF versions of the article. ...

journal_title：Nature genetics

authors： Fanucchi S,Fok ET,Dalla E,Shibayama Y,Börner K,Chang EY,Stoychev S,Imakaev M,Grimm D,Wang KC,Li G,Sung WK,Mhlanga MM

更新日期：2019-02-01 00:00:00

abstract：:Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and a cardiomyopathy with conduction blocks which is life-threatening. Two modes of inheritance exist, X-linked (OMIM 310300) and autosomal dominant (EDMD-AD; ...

journal_title：Nature genetics

authors： Bonne G,Di Barletta MR,Varnous S,Bécane HM,Hammouda EH,Merlini L,Muntoni F,Greenberg CR,Gary F,Urtizberea JA,Duboc D,Fardeau M,Toniolo D,Schwartz K

更新日期：1999-03-01 00:00:00

abstract：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

journal_title：Nature genetics

authors： Malik R,Chauhan G,Traylor M,Sargurupremraj M,Okada Y,Mishra A,Rutten-Jacobs L,Giese AK,van der Laan SW,Gretarsdottir S,Anderson CD,Chong M,Adams HHH,Ago T,Almgren P,Amouyel P,Ay H,Bartz TM,Benavente OR,Bevan S,Bon

更新日期：2019-07-01 00:00:00

abstract：:Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the pathogenesis of inflammatory diseases. Here we describe a genome-wide association scan for sequence variants affecting eosinophil counts in blood of 9,392 Iceland...

journal_title：Nature genetics

authors： Gudbjartsson DF,Bjornsdottir US,Halapi E,Helgadottir A,Sulem P,Jonsdottir GM,Thorleifsson G,Helgadottir H,Steinthorsdottir V,Stefansson H,Williams C,Hui J,Beilby J,Warrington NM,James A,Palmer LJ,Koppelman GH,Heinzmann

更新日期：2009-03-01 00:00:00

abstract：:Linkage disequilibrium (LD) is a major aspect of the organization of genetic variation in natural populations. Here we describe the genome-wide pattern of LD in a sample of 19 Arabidopsis thaliana accessions using 341,602 non-singleton SNPs. LD decays within 10 kb on average, considerably faster than previously estima...

journal_title：Nature genetics

authors： Kim S,Plagnol V,Hu TT,Toomajian C,Clark RM,Ossowski S,Ecker JR,Weigel D,Nordborg M

更新日期：2007-09-01 00:00:00

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

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

abstract：:Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with human complex traits. However, the genes or functional DNA elements through which these variants exert their effects on the traits are often unknown. We propose a method (called SMR) that integrates summary-level data ...

journal_title：Nature genetics

authors： Zhu Z,Zhang F,Hu H,Bakshi A,Robinson MR,Powell JE,Montgomery GW,Goddard ME,Wray NR,Visscher PM,Yang J

更新日期：2016-05-01 00:00:00