当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Association between single-nucleotide polymorphisms in selectin genes and immunoglobulin A nephropathy.

Association between single-nucleotide polymorphisms in selectin genes and immunoglobulin A nephropathy.

Abstract：

:Although intensive efforts have been undertaken to elucidate the genetic background of immunoglobulin A nephropathy (IgAN), genetic factors associated with the pathogenesis of this disease are still not well understood. We designed a case-control association study that was based on linkage disequilibrium among single-nucleotide polymorphisms (SNPs) in the selectin gene cluster on chromosome 1q24-25, and we found two SNPs in the E-selectin gene (SELE8 and SELE13) and six SNPs in the L-selectin gene (SELL1, SELL4, SELL5, SELL6, SELL10, and SELL11) that were significantly associated with IgAN in Japanese patients. All eight SNPs were in almost complete linkage disequilibrium. SELE8 and SELL10 caused amino acid substitutions from His to Tyr and from Pro to Ser (chi2=9.02, P=.0026, odds ratio = 2.73 [95% confidence interval [CI] 1.38--5.38] for His-to-Tyr substitutions; chi2=17.4, P=.000031, odds ratio = 3.61 [95% CI 1.91--6.83] for Pro-to-Ser substitutions), and SELL1 could affect promoter activity of the L-selectin gene (chi2=19.5, P=.000010, odds ratio = 3.77 [95% CI 2.02--7.05]). The TGT haplotype at these three loci was associated significantly with IgAN (chi2=18.67, P=.000016, odds ratio = 1.88 [95% CI 1.41--2.51]). Our results suggest that these eight SNPs in selectin genes may be useful for screening populations susceptible to the IgAN phenotype that involves interstitial infiltration.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Takei T,Iida A,Nitta K,Tanaka T,Ohnishi Y,Yamada R,Maeda S,Tsunoda T,Takeoka S,Ito K,Honda K,Uchida K,Tsuchiya K,Suzuki Y,Fujioka T,Ujiie T,Nagane Y,Miyano S,Narita I,Gejyo F,Nihei H,Nakamura Y

doi

10.1086/339077

subject

Has Abstract

pub_date

2002-03-01 00:00:00

pages

781-6

issue

3

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)60281-X

journal_volume

70

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Electrotypes and formal genetics of red cell glutathione peroxidase (GPX1) in the Djuka of Surinam.

    abstract：:Samples of venous blood from 239 male and 476 female adults including 41 pairs of parents and 123 of their children belonging to a Surinam population called the Djuka or Bush Negroes of West African origin were screened for electrophoretic variants of red cell glutathione peroxidase (GPX1) in Cellogel. The results con...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Meera Khan P,Verma C,Wijnen LM,Wijnen JT,Prins HK,Nijenhuis LE

    更新日期：1986-05-01 00:00:00

  • Mitochondrial dysfunction in idiopathic Parkinson disease.

    abstract：:Disordered mitochondrial metabolism may play an important role in a number of idiopathic neurodegenerative disorders. The question of mitochondrial dysfunction is particularly attractive in the case of idiopathic Parkinson disease (PD), since Vyas et al. recognized in the 1980s that the parkinsonism-inducing compound ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1086/301812

    authors： Parker WD Jr,Swerdlow RH

    更新日期：1998-04-01 00:00:00

  • Linkage analysis of the apolipoprotein C2 gene and myotonic dystrophy on human chromosome 19 reveals linkage disequilibrium in a French-Canadian population.

    abstract：:The gene for human apolipoprotein C2 (APOC2), situated on the proximal long arm of chromosome 19, is closely linked to the gene for the most common form of adult muscular dystrophy, myotonic dystrophy (DM). Six APOC2 RFLPs (TaqI, BglI, BanI, BamHI, NcoI, and AvaII) have been identified to date. We have conducted a com...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： MacKenzie AE,MacLeod HL,Hunter AG,Korneluk RG

    更新日期：1989-01-01 00:00:00

  • Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.

    abstract：:Serum and leukocyte hexosaminidase profiles (total activity and percent heat-labile activity levels) in obligate Sandhoff disease (SHD) heterozygotes differ from those of obligate Tay-Sachs disease (TSD) heterozygotes and noncarrier individuals. We have developed a procedure to identify, with 95% sensitivity, carriers...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Cantor RM,Lim JS,Roy C,Kaback MM

    更新日期：1985-09-01 00:00:00

  • Absence of the Asian-specific region V mitochondrial marker in Native Beringians.

    abstract：:The Asian-specific 9-bp deletion between the genes for mitochondrial cytochrome oxidase II and lysine transfer RNA has been used to trace aboriginal human movements out of Southeast Asia and into portions of the South Pacific. Although it has been used to estimate the number of independent lineages that occur in the N...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Shields GF,Hecker K,Voevoda MI,Reed JK

    更新日期：1992-04-01 00:00:00

  • Polymporphism of human C-band heterochromatin. II. Family studies with suggestive evidence for somatic crossing over.

    abstract：:An analysis of the inherited pattern of C-band heterochromatin has been made in five pedigrees containing a total of 33 offspring that were available for analysis. The majority of variants were found to be inherited; however, at least seven of the 99 variants were not present in either parent, and an additional seven ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Craig-Holmes AP,Moore FB,Shaw MW

    更新日期：1975-03-01 00:00:00

  • Bayesian mapping of quantitative trait loci for multiple complex traits with the use of variance components.

    abstract：:Complex traits important for humans are often correlated phenotypically and genetically. Joint mapping of quantitative-trait loci (QTLs) for multiple correlated traits plays an important role in unraveling the genetic architecture of complex traits. Compared with single-trait analysis, joint mapping addresses more que...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/519495

    authors： Liu J,Liu Y,Liu X,Deng HW

    更新日期：2007-08-01 00:00:00

  • The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.

    abstract：:Idiopathic torsion dystonia (ITD) is characterized by involuntary twisting movements and postures. A gene for this disorder, DYT1, was mapped to chromosome 9q34 in 12 Ashkenazi Jewish (AJ) families and one large non-Jewish kindred. In the AJ population, strong linkage disequilibrium exists between DYT1 and adjacent ma...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kramer PL,Heiman GA,Gasser T,Ozelius LJ,de Leon D,Brin MF,Burke RE,Hewett J,Hunt AL,Moskowitz C

    更新日期：1994-09-01 00:00:00

  • The magnitude and origin of European-American admixture in the Gila River Indian Community of Arizona: a union of genetics and demography.

    abstract：:Complementary genetic and demographic analyses estimate the total proportion of European-American admixture in the Gila River Indian Community and trace its mode of entry. Among the 9,616 residents in the sample, 2,015 persons claim only partial Native American heritage. A procedure employing 23 alleles or haplotypes ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Williams RC,Knowler WC,Pettitt DJ,Long JC,Rokala DA,Polesky HF,Hackenberg RA,Steinberg AG,Bennett PH

    更新日期：1992-07-01 00:00:00

  • Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

    abstract：:Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian disorders, particularly for individuals in whom a known clinical entity could not be assigned. This has led to the recognition that phenotypic heterogeneity resulting from allelic mutations occurs more commonly than previously apprec...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.12.015

    authors： Martinelli S,Krumbach OHF,Pantaleoni F,Coppola S,Amin E,Pannone L,Nouri K,Farina L,Dvorsky R,Lepri F,Buchholzer M,Konopatzki R,Walsh L,Payne K,Pierpont ME,Vergano SS,Langley KG,Larsen D,Farwell KD,Tang S,Mroske C

    更新日期：2018-02-01 00:00:00

  • Identification of genetic variants contributing to cisplatin-induced cytotoxicity by use of a genomewide approach.

    abstract：:Cisplatin, a platinating agent commonly used to treat several cancers, is associated with nephrotoxicity, neurotoxicity, and ototoxicity, which has hindered its utility. To gain a better understanding of the genetic variants associated with cisplatin-induced toxicity, we present a stepwise approach integrating genotyp...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/519850

    authors： Huang RS,Duan S,Shukla SJ,Kistner EO,Clark TA,Chen TX,Schweitzer AC,Blume JE,Dolan ME

    更新日期：2007-09-01 00:00:00

  • Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

    abstract：:Familial adenomatous polyposis (FAP) is a premalignant disease inherited as an autosomal dominant trait, characterized by hundreds to thousands of polyps in the colorectal tract. Recently, the syndrome has been shown to be caused by mutations in the APC (adenomatous polyposis coli) gene located on chromosome 5q21. We ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Stella A,Resta N,Gentile M,Susca F,Mareni C,Montera MP,Guanti G

    更新日期：1993-11-01 00:00:00

  • Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval.

    abstract：:Sudden cardiac death is responsible for half of all deaths from cardiovascular disease. The analysis of the electrophysiological substrate for arrhythmias is crucial for optimal risk stratification. A prolonged T-peak-to-Tend (Tpe) interval on the electrocardiogram is an independent predictor of increased arrhythmic r...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.04.009

    authors： Ramírez J,van Duijvenboden S,Young WJ,Orini M,Lambiase PD,Munroe PB,Tinker A

    更新日期：2020-06-04 00:00:00

  • Heritable fragile sites on human chromosomes. IX. Population cytogenetics and segregation analysis of the BrdU-requiring fragile site at 10q25.

    abstract：:The frequencies of the bromodeoxyuridine (BrdU)-requiring fragile site at 10q25 in 1,026 unselected neonates, 901 patients referred for chromosome studies, and 87 institutionalized retardates were not significantly different from each other. The gene frequency was .013, and the population was in Hardy-Weinberg equilib...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Sutherland GR

    更新日期：1982-09-01 00:00:00

  • A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

    abstract：:We have previously shown that a quantitative-trait locus linked to the OCA2 region of 15q accounts for 74% of variation in human eye color. We conducted additional genotyping to clarify the role of the OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin-cancer risk in white popu...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/510885

    authors： Duffy DL,Montgomery GW,Chen W,Zhao ZZ,Le L,James MR,Hayward NK,Martin NG,Sturm RA

    更新日期：2007-02-01 00:00:00

  • Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions.

    abstract：:Homologous recombination between poorly characterized regions flanking the NF1 locus causes the constitutional loss of approximately 1.5 Mb from 17q11.2 covering > or =11 genes in 5%-20% of patients with neurofibromatosis type 1 (NF1). To elucidate the extent of microheterogeneity at the deletion boundaries, we used s...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/323043

    authors： Jenne DE,Tinschert S,Reimann H,Lasinger W,Thiel G,Hameister H,Kehrer-Sawatzki H

    更新日期：2001-09-01 00:00:00

  • The genetics of sun sensitivity in humans.

    abstract：:Humans vary >100-fold in their sensitivity to the harmful effects of ultraviolet radiation. The main determinants of sensitivity are melanin pigmentation and less-well-characterized differences in skin inflammation and repair processes. Pigmentation has a high heritability, but susceptibility to cancers of the skin, a...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1086/425285

    authors： Rees JL

    更新日期：2004-11-01 00:00:00

  • Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.

    abstract：:Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsen...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/510020

    authors： Gazda HT,Grabowska A,Merida-Long LB,Latawiec E,Schneider HE,Lipton JM,Vlachos A,Atsidaftos E,Ball SE,Orfali KA,Niewiadomska E,Da Costa L,Tchernia G,Niemeyer C,Meerpohl JJ,Stahl J,Schratt G,Glader B,Backer K,Wong C,

    更新日期：2006-12-01 00:00:00

  • Proportion of genome shared identical by descent by relatives: concept, computation, and applications.

    abstract：:One widely used measure of genetic similarity for pairs of relatives is gene identity-by-descent (IBD) sharing. Genes that are copies of a single gene in a common ancestor of the individuals who now carry them are said to be IBD. One obvious extension of the IBD concept is IBD gene(s) shared by more than two individua...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Guo SW

    更新日期：1995-06-01 00:00:00

  • Pulsed-field electrophoresis screening for immunoglobulin heavy-chain constant-region (IGHC) multigene deletions and duplications.

    abstract：:Genome regions containing multiple copies of homologous genes, such as the immunoglobulin (Ig) heavy-chain constant-region (IGHC) locus, are often unstable and give rise to duplicated and deleted haplotypes. Analysis of such processes is fundamental to understanding the mechanisms of evolution of multigene families. I...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Bottaro A,Cariota U,DeMarchi M,Carbonara AO

    更新日期：1991-04-01 00:00:00

  • Age correlation between mates and average consanguinity in age-structured human populations.

    abstract：:When population geneticists wish to determine the genetic consequences of some aspect of mating behavior, it is often necessary to compare observed levels of consanguinity to the level expected when mating is random with respect to the factor being studied. Expectations under random mating are often derived from discr...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Leslie PW

    更新日期：1983-09-01 00:00:00

  • Improved power by use of a weighted score test for linkage disequilibrium mapping.

    abstract：:Association studies offer an exciting approach to finding underlying genetic variants of complex human diseases. However, identification of genetic variants still includes difficult challenges, and it is important to develop powerful new statistical methods. Currently, association methods may depend on single-locus an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/511312

    authors： Wang T,Elston RC

    更新日期：2007-02-01 00:00:00

  • Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

    abstract：:The tRNA synthetases catalyze the first step of protein synthesis and have increasingly been studied for their nuclear and extra-cellular ex-translational activities. Human genetic conditions such as Charcot-Marie-Tooth have been attributed to dominant gain-of-function mutations in some tRNA synthetases. Unlike domina...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.06.006

    authors： Xu Z,Lo WS,Beck DB,Schuch LA,Oláhová M,Kopajtich R,Chong YE,Alston CL,Seidl E,Zhai L,Lau CF,Timchak D,LeDuc CA,Borczuk AC,Teich AF,Juusola J,Sofeso C,Müller C,Pierre G,Hilliard T,Turnpenny PD,Wagner M,Kappler

    更新日期：2018-07-05 00:00:00

  • A primary genetic map of chromosome 13q.

    abstract：:We have constructed a primary genetic map spanning most of human chromosome 13. A total of 14 polymorphic DNA sequences and one protein polymorphism provided, after construction of haplotypes, seven markers for the long arm of this chromosome. A panel of cell lines from 30 three-generation families with large sibship ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Leppert M,Cavenee W,Callahan P,Holm T,O'Connell P,Thompson K,Lathrop GM,Lalouel JM,White R

    更新日期：1986-10-01 00:00:00

  • Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

    abstract：:Primary defects in motile cilia result in dysfunction of the apparatus responsible for generating fluid flows. Defects in these mechanisms underlie disorders characterized by poor mucus clearance, resulting in susceptibility to chronic recurrent respiratory infections, often associated with infertility; laterality def...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.10.003

    authors： Bonnefoy S,Watson CM,Kernohan KD,Lemos M,Hutchinson S,Poulter JA,Crinnion LA,Berry I,Simmonds J,Vasudevan P,O'Callaghan C,Hirst RA,Rutman A,Huang L,Hartley T,Grynspan D,Moya E,Li C,Carr IM,Bonthron DT,Leroux M,C

    更新日期：2018-11-01 00:00:00

  • Homozygosity for Pc 1 Duarte-like protein in primates and other animals.

    abstract：:Pc 1 Duarte is a mutant brain protein present in 32% of the normal human population with 2.6% being homozygous. Preliminary studies suggest an increased frequency of this mutation in individuals with affective disease. To determine if this mutant was present in primates, 32 fetal (wild)-born baboons were examined. All...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Comings DE,Jalanko A,Kuehl TJ

    更新日期：1981-01-01 00:00:00

  • The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

    abstract：:Functional characterization of a gene often requires the discovery of the full spectrum of its associated phenotypes. Mutations in the human GLI3 gene have been identified in Greig cepalopolysyndactyly, Pallister-Hall syndrome (PHS), and postaxial polydactyly type-A (PAP-A). We studied the involvement of GLI3 in addit...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302557

    authors： Radhakrishna U,Bornholdt D,Scott HS,Patel UC,Rossier C,Engel H,Bottani A,Chandal D,Blouin JL,Solanki JV,Grzeschik KH,Antonarakis SE

    更新日期：1999-09-01 00:00:00

  • Genetic disorders in children and young adults: a population study.

    abstract：:The data base of an ongoing population-based registry with multiple sources of ascertainment was used to estimate the present population load from genetic disease in more than 1 million consecutive live births. It was found that, before approximately age 25 years, greater than or equal to 53/1,000 live-born individual...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Baird PA,Anderson TW,Newcombe HB,Lowry RB

    更新日期：1988-05-01 00:00:00

  • Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome.

    abstract：:Using sequence-tagged sites we have performed deletion mapping of the Y chromosome in sex-reversed female patients with a Y chromosome and gonadoblastoma. The GBY gene (gonadoblastoma locus on the Y chromosome) was sublocalized to a small region near the centromere of the Y chromosome. We estimate the size of the GBY ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Tsuchiya K,Reijo R,Page DC,Disteche CM

    更新日期：1995-12-01 00:00:00

  • gamma-Aminobutyric acid transaminase (GABAT) polymorphism among ethnic groups in Singapore--with report of a new allele.

    abstract：:gamma-Aminobutyric acid transaminase (GABAT, E.C.2.6.I.19) was phenotyped by starch-gel electrophoresis in post-mortem liver samples from 650 unrelated subjects of either sex, comprising 289 Chinese, 177 Indians, 140 Malays, and 44 from other racial groups from Southeast Asia. The estimated gene frequencies of GABAT1 ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Bhattacharyya SP,Saha N,Wee KP

    更新日期：1985-03-01 00:00:00