当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > A genealogical assessment of familial clustering of anorectal malformations.

A genealogical assessment of familial clustering of anorectal malformations.

Abstract：

:Familial recurrence of anorectal malformations (ARMs) has been reported in single institution case series and in two population-based studies. Here, we investigate the familial aggregation of ARMs using well-established, unbiased methods in a population genealogy of Utah. Study subjects included 255 ARM cases identified from among the two largest healthcare providers in Utah with linked genealogy data using International Classification of Diseases, Ninth Revision (ICD-9) diagnosis codes. The genealogical index of familiality (GIF) statistic, which compares the average pair-wise relatedness of cases to sets of matched controls, was used to test excess familial clustering. We also estimated relative risks (RRs) for ARM and associated phenotypes in relatives of cases adjusting for age-, sex-, and birthplace. Significant excess familial clustering was observed for all ARM subjects (GIF p < 1e-3). Significant RR estimates for ARM (RR = 15.6, p = 3.3e-6), and for almost all co-morbid birth defects previously associated with ARM, were observed among first-degree relatives of ARM case subjects. This genealogically-based population survey of familial aggregation of ARMs confirms the presence of a heritable component to ARMs and provides unbiased risk estimates to relatives of cases, which may have clinical utility.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Teerlink CC,Bernhisel R,Cannon-Albright LA,Rollins MD

doi

10.1038/s10038-018-0487-y

subject

Has Abstract

pub_date

2018-10-01 00:00:00

pages

1029-1034

issue

10

eissn

1434-5161

issn

1435-232X

pii

10.1038/s10038-018-0487-y

journal_volume

63

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.

    abstract：:Genomic imprinting is an epigenetic phenomenon that leads to parent-specific differential expression of a subset of genes. Most imprinted genes form clusters, or imprinting domains, and are regulated by imprinting control regions. As imprinted genes have an important role in growth and development, aberrant expression...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/jhg.2013.51

    authors： Soejima H,Higashimoto K

    更新日期：2013-07-01 00:00:00

  • Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

    abstract：:Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patients who presented with ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2017.38

    authors： Guo L,Elcioglu NH,Mizumoto S,Wang Z,Noyan B,Albayrak HM,Yamada S,Matsumoto N,Miyake N,Nishimura G,Ikegawa S

    更新日期：2017-08-01 00:00:00

  • A novel expression system for genomic DNA loci using a human artificial chromosome vector with transformation-associated recombination cloning.

    abstract：:Following the recent completion of the human genome sequence, genomics research has shifted its focus to understanding gene complexity, expression, and regulation. However, in order to investigate such issues, there is a need to develop a practical system for genomic DNA expression. Transformation-associated recombina...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-005-0300-6

    authors： Ayabe F,Katoh M,Inoue T,Kouprina N,Larionov V,Oshimura M

    更新日期：2005-01-01 00:00:00

  • Functional impairment of two novel mutations detected in lipoprotein-associated phospholipase A2 (Lp-PLA2) deficiency patients.

    abstract：:Plasma lipoprotein-associated phospholipase A2 (Lp-PLA2), also known as platelet-activating factor (PAF) acetylhydrolase (PAF-AH), is a member of the serine-dependent class of A2 phospholipases that hydrolyze sn2-ester bonds of fragmented or oxidized phospholipids at sites where atherosclerotic plaques are forming. Mo...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0151-6

    authors： Ishihara M,Iwasaki T,Nagano M,Ishii J,Takano M,Kujiraoka T,Tsuji M,Hattori H,Emi M

    更新日期：2004-01-01 00:00:00

  • Allelic structures at hypervariable minisatellite B6.7 in Japanese show population specificity.

    abstract：:Human minisatellite B6.7 shows extensive allele length and structural variability in north Europeans. We analysed this locus in the Japanese population. Allele size distributions showed that Japanese retain extensive allele length variability but have significantly smaller alleles compared with north Europeans. In con...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200031

    authors： Mizukoshi T,Tamaki K,Azumi J,Matsumoto H,Imai K,Jeffreys AJ

    更新日期：2002-01-01 00:00:00

  • High-resolution SNP map of ASPN, a susceptibility gene for osteoarthritis.

    abstract：:Osteoarthritis (OA) is a very common bone and joint disease characterized by breakdown of cartilage in the joint. We recently found that an aspartic-acid repeat polymorphism of the asporin gene (ASPN) on chromosome 9 is associated with susceptibility to OA in Japanese. We provide here a high-resolution single nucleoti...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-005-0337-6

    authors： Iida A,Kizawa H,Nakamura Y,Ikegawa S

    更新日期：2006-01-01 00:00:00

  • Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families.

    abstract：:Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 are responsible for a large proportion of familial breast cancer cases, and therefore, BRCA1 and BRCA2 genetic testing has become increasingly common in clinical practice. However, variants of uncertain significance (VUS) have been detected in 16.3% of J...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.71

    authors： Kawaku S,Sato R,Song H,Bando Y,Arinami T,Noguchi E

    更新日期：2013-09-01 00:00:00

  • Erratum to: Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.

    abstract：:The name Fon-Jou Hsieh was inadvertently omitted from the list of authors. The name should be added as the third author of the article. ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,已发布勘误

    doi：10.1007/s10038-006-0367-8

    authors： Lai LP,Su YN,Hsieh FJ,Chiang FT,Juang JM,Liu YB,Ho YL,Chen WJ,Yeh SJ,Wang CC,Ko YL,Wu TJ,Ueng KC,Lei MH,Tsao HM,Chen SA,Lin TK,Wu MH,Lo HM,Huang SKS,Lin JL

    更新日期：2006-03-01 00:00:00

  • Isolation and localization of an IDDMK1,2-22-related human endogenous retroviral gene, and identification of a CA repeat marker at its locus.

    abstract：:We intended to confirm genetically the involvement of the IDDMK1,2-22 gene in the pathogenesis of insulin-dependent diabetes mellitus (IDDM). For this purpose, we isolated a human endogenous retrovirus gene, possibly corresponding to IDDMK1,2-22. The isolated gene showed 99.8% and 99.7% homologies in nucleotide sequen...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050173

    authors： Hasuike S,Miura K,Miyoshi O,Miyamoto T,Niikawa N,Jinno Y,Ishikawa M

    更新日期：1999-01-01 00:00:00

  • Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.

    abstract：:Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12. The longest continuous open reading frame comprises 66 exons encoding a novel 4,074 aa multidomain integral membrane protein (polyductin/fibrocystin) of unknown f...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0022-4

    authors： Bergmann C,Frank V,Küpper F,Schmidt C,Senderek J,Zerres K

    更新日期：2006-01-01 00:00:00

  • Gender bias in the multiethnic genetic composition of central Argentina.

    abstract：:A sample of central Argentina (Córdoba) was genotyped for the first hypervariable region (HVS-I) plus a set of coding region mitochondrial DNA (mtDNA) single nucleotide polymorphisms (SNPs) (N = 102) and compared with a data set of Y-chromosome short tandem repeats (Y-STRs; N = 100) previously genotyped in the same in...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-008-0297-8

    authors： Salas A,Jaime JC,Álvarez-Iglesias V,Carracedo Á

    更新日期：2008-01-01 00:00:00

  • An Ile/Val polymorphism at codon 1464 of the ATP7A gene.

    abstract：:An isoleucine/valine polymorphism was observed at codon 1464 of the ATP7A gene, which is thought to encode a copper transporting adenosine triphosphatase (ATPase). The frequency of Val1464 was estimated to be 5.7% in the Japanese population. This polymorphism may be useful in genetic studies of Menkes disease. ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050194

    authors： Ogawa A,Yamamoto S,Takayanagi M,Kogo T,Kanazawa M,Kohno Y

    更新日期：1999-01-01 00:00:00

  • Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors.

    abstract：:Prader-Willi syndrome (PWS) is primarily caused by deletions involving the paternally derived imprinted region at chromosome 15q11.2-q13 and maternal uniparental disomy 15 (upd(15)mat). The underlying mechanisms for upd(15)mat include trisomy rescue (TR), gamete complementation (GC), monosomy rescue and post-fertiliza...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.59

    authors： Matsubara K,Murakami N,Nagai T,Ogata T

    更新日期：2011-08-01 00:00:00

  • Differences in allele frequencies of autosomal dominant hypercholesterolemia SNPs in the Malaysian population.

    abstract：:Hypercholesterolemia is caused by different interactions of lifestyle and genetic determinants. At the genetic level, it can be attributed to the interactions of multiple polymorphisms, or as in the example of familial hypercholesterolemia (FH), it can be the result of a single mutation. A large number of genetic mark...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.34

    authors： Alex L,Chahil JK,Lye SH,Bagali P,Ler LW

    更新日期：2012-06-01 00:00:00

  • Identification of a novel human DDX40gene, a new member of the DEAH-box protein family.

    abstract：:The DExH/D-box superfamily of RNA helicases seems to play key roles during RNA metabolism, such as pre-mRNA splicing, ribosome biogenesis, and others. We have cloned a new gene of the DEAH-box protein subgroup, designated DDX40 (DEAD/H-box polypeptide 40 gene). DDX40 contains 3656 nucleotides and codes for a putative ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200104

    authors： Xu J,Wu H,Zhang C,Cao Y,Wang L,Zeng L,Ye X,Wu Q,Dai J,Xie Y,Mao Y

    更新日期：2002-01-01 00:00:00

  • Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).

    abstract：:Cumulative data obtained from two relatively large pedigrees of a unique reciprocal chromosomal translocation (RCT) t(1;11)(p36.22;q12.2) ascertained by three miscarriages (pedigree 1) and the birth of newborn with hydrocephalus and myelomeningocele (pedigree 2) were used to estimate recurrence risks for different pre...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.92

    authors： Midro AT,Panasiuk B,Stasiewicz-Jarocka B,Olszewska M,Wiland E,Myśliwiec M,Kurpisz M,Shaffer LG,Gajecka M

    更新日期：2014-12-01 00:00:00

  • New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome.

    abstract：:We used magnetic resonance imaging (MRI) to examine the brain of a typical Coffin-Lowry syndrome (CLS) patient. There were many small perivascular focal areas of hypointensity in the white matter on T1-weighted images, similar to those found in mucopolysaccharidosis or perivascular leukomalacia. However, these changes...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050038

    authors： Kondoh T,Matsumoto T,Ochi M,Sukegawa K,Tsuji Y

    更新日期：1998-01-01 00:00:00

  • Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

    abstract：:De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). To date, all de novo dominant mutations have been found in a single highly conserved amino acid residue at position p.Arg138...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2017.18

    authors： Bhola PT,Hartley T,Bareke E,Care4Rare Canada Consortium.,Boycott KM,Nikkel SM,Dyment DA

    更新日期：2017-06-01 00:00:00

  • Variations in the WNK1 gene modulates the effect of dietary intake of sodium and potassium on blood pressure determination.

    abstract：:WNK lysine-deficient protein kinase 1 (WNK1) is a member of the WNK family of serine/threonine kinases with no lysine (K), and these kinases have been implicated as important modulators of salt homeostasis in the kidney. It is well known that high dietary sodium and low dietary potassium have been implicated in the et...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,随机对照试验

    doi：10.1038/jhg.2009.64

    authors： Osada Y,Miyauchi R,Goda T,Kasezawa N,Horiike H,Iida M,Sasaki S,Yamakawa-Kobayashi K

    更新日期：2009-08-01 00:00:00

  • Retrotransposal integration of mobile genetic elements in human diseases.

    abstract：:Approximately one-third of the mammalian genome is composed of highly repeated DNA sequences, of which the two major families, the long and short inter-spersed nucleotide elements (LINEs and SINEs), are represented in humans by L1 and Alu elements respectively. Both 'types of element are considered to be retrotranspos...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s100380050045

    authors： Miki Y

    更新日期：1998-01-01 00:00:00

  • Genomic structure and chromosomal mapping of the human site-1 protease (S1P) gene.

    abstract：:Site-1 protease (S1P) is a subtilisin-related enzyme that cleaves sterol regulatory element-binding proteins (SREBPs) in the lumen of endoplasmic reticulum, thereby initiating the release of transcriptionally active NH2-terminal fragments of SREBPs from membranes. In the experiments reported here, we localized the hum...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380070029

    authors： Nakajima T,Iwaki K,Kodama T,Inazawa J,Emi M

    更新日期：2000-01-01 00:00:00

  • Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.

    abstract：:Osteosclerotic metaphyseal dysplasia (OSMD) is a rare skeletal dysplasia characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones. Our previous study identified a homozygous elongation mutation in leucine-rich repeat kinase 1 gene (LRRK1) in a patient with OSMD and showed that Lrr...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.136

    authors： Guo L,Girisha KM,Iida A,Hebbar M,Shukla A,Shah H,Nishimura G,Matsumoto N,Nismath S,Miyake N,Ikegawa S

    更新日期：2017-03-01 00:00:00

  • Tissue-specific differentially methylated regions of the human VASA gene are potentially associated with maturation arrest phenotype in the testis.

    abstract：:Numerous CpG islands containing tissue-specific differentially methylated regions (TDMRs) are potential methylation sites in normal cells and tissues. The VASA (also known as DDX4) gene is believed to be under the control of TDMRs. A total of 131 male patients with idiopathic azoospermia or severe oligospermia were ev...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2009.59

    authors： Sugimoto K,Koh E,Sin HS,Maeda Y,Narimoto K,Izumi K,Kobori Y,Kitamura E,Nagase H,Yoshida A,Namiki M

    更新日期：2009-08-01 00:00:00

  • alpha-1-Antichymotrypsin gene A1252G variant (ACT Isehara-1) is associated with a lacunar type of ischemic cerebrovascular disease.

    abstract：:alpha-1-Antichymotrypsin (ACT) is a plasma protease inhibitor belonging to the serpine superfamily; it has many functions. and thus qualitative change in ACT is likely to result in specific diseases. We previously reported a variant AACT (ACT Isehara-1, Met389Val, A1252G) in patients with ischemic cerebrovascular dise...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170125

    authors： Tachikawa H,Tsuda M,Onoe K,Ueno M,Takagi S,Shinohara Y

    更新日期：2001-01-01 00:00:00

  • Characterization of the B-cell receptor repertoires in peanut allergic subjects undergoing oral immunotherapy.

    abstract：:B-cell receptors (BCRs) play a critical role in adaptive immunity as they generate highly diverse immunoglobulin repertoires to recognize a wide variety of antigens. To better understand immune responses, it is critically important to establish a quantitative and rapid method to analyze BCR repertoire comprehensively....

    journal_title：Journal of human genetics

    pub_type： 杂志文章,多中心研究,随机对照试验

    doi：10.1038/s10038-017-0364-0

    authors： Kiyotani K,Mai TH,Yamaguchi R,Yew PY,Kulis M,Orgel K,Imoto S,Miyano S,Burks AW,Nakamura Y

    更新日期：2018-02-01 00:00:00

  • Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion.

    abstract：:With congenital central hypoventilation syndrome (CCHS), most patients have a de novo 5-13 polyalanine expansion mutation in PHOX2B. We reported previously that de novo polyalanine expansion mutations were of paternal origin and were derived from unequal sister chromatid exchange during spermatogenesis in six and four...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2009.109

    authors： Arai H,Otagiri T,Sasaki A,Umetsu K,Hayasaka K

    更新日期：2010-01-01 00:00:00

  • Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.

    abstract：:Pericentric inversions are among the known polymorphisms detected in the general population at a frequency of 1-2%. Despite their generally benign nature, pericentric inversions affect the reproductive potential of carriers by increasing the risk for unbalanced live-born offspring, miscarriages, or other fertility pro...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-0769-z

    authors： Sismani C,Rapti SM,Iliopoulou P,Spring A,Neroutsou R,Lagou M,Robola M,Tsitsopoulos E,Kousoulidou L,Alexandrou A,Papaevripidou I,Theodosiou A,Syrrou M,Fuchs S,Hempel M,Huhle D,Liehr T,Ziegler M,Duesberg M,Velissariou

    更新日期：2020-09-01 00:00:00

  • APOBEC3H polymorphisms and susceptibility to HIV-1 infection in an Indian population.

    abstract：:Human APOBEC3H (A3H) is a member of APOBEC cytidine deaminase family intensively constraining the HIV-1 replication. A3H is known to be polymorphic with different protein stability and anti-HIV-1 activity in vitro. We recently reported that A3H haplotypes composed of two functional polymorphisms, rs139292 (N15del) and...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2015.136

    authors： Naruse TK,Sakurai D,Ohtani H,Sharma G,Sharma SK,Vajpayee M,Mehra NK,Kaur G,Kimura A

    更新日期：2016-03-01 00:00:00

  • Detecting non-multiplicative genotype relative risks from transmissions of parental alleles to affected children.

    abstract：:The differential transmission of alleles from parents to affected children indicates that the locus under investigation is either directly involved in the occurrence of the disease or that there are allelic associations with other loci that are directly involved. Conditional logistic regression applied to a diallelic ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0217-5

    authors： Ayres KL,Curnow RN

    更新日期：2005-01-01 00:00:00

  • Variable continental distribution of polymorphisms in the coding regions of DNA-repair genes.

    abstract：:DNA-repair pathways are critical for maintaining the integrity of the genetic material by protecting against mutations due to exposure-induced damages or replication errors. Polymorphisms in the corresponding genes may be relevant in genetic epidemiology by modifying individual cancer susceptibility or therapeutic res...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0097-0

    authors： Mathonnet G,Labuda D,Meloche C,Wambach T,Krajinovic M,Sinnett D

    更新日期：2003-01-01 00:00:00