当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Genetic differences in the two main groups of the Japanese population based on autosomal SNPs and haplotypes.

Genetic differences in the two main groups of the Japanese population based on autosomal SNPs and haplotypes.

Abstract：

:Although the Japanese population has a rather low genetic diversity, we recently confirmed the presence of two main clusters (the Hondo and Ryukyu clusters) through principal component analysis of genome-wide single-nucleotide polymorphism (SNP) genotypes. Understanding the genetic differences between the two main clusters requires further genome-wide analyses based on a dense SNP set and comparison of haplotype frequencies. In the present study, we determined haplotypes for the Hondo cluster of the Japanese population by detecting SNP homozygotes with 388,591 autosomal SNPs from 18,379 individuals and estimated the haplotype frequencies. Haplotypes for the Ryukyu cluster were inferred by a statistical approach using the genotype data from 504 individuals. We then compared the haplotype frequencies between the Hondo and Ryukyu clusters. In most genomic regions, the haplotype frequencies in the Hondo and Ryukyu clusters were very similar. However, in addition to the human leukocyte antigen region on chromosome 6, other genomic regions (chromosomes 3, 4, 5, 7, 10 and 12) showed dissimilarities in haplotype frequency. These regions were enriched for genes involved in the immune system, cell-cell adhesion and the intracellular signaling cascade. These differentiated genomic regions between the Hondo and Ryukyu clusters are of interest because they (1) should be examined carefully in association studies and (2) likely contain genes responsible for morphological or physiological differences between the two groups.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Yamaguchi-Kabata Y,Tsunoda T,Kumasaka N,Takahashi A,Hosono N,Kubo M,Nakamura Y,Kamatani N

doi

10.1038/jhg.2012.26

subject

Has Abstract

pub_date

2012-05-01 00:00:00

pages

326-34

issue

5

eissn

1434-5161

issn

1435-232X

pii

jhg201226

journal_volume

57

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Mitochondrial DNA analysis of Yayoi period human skeletal remains from the Doigahama site.

    abstract：:We analyzed the mitochondrial DNA extracted from 14 human skeletal remains from the Doigahama site in Japan to clarify the genetic structure of the Doigahama Yayoi population and the relationship between burial style and kinship among individuals. The sequence types obtained in this study were compared with those of t...

    journal_title：Journal of human genetics

    pub_type： 历史文章,杂志文章

    doi：10.1038/jhg.2009.81

    authors： Igawa K,Manabe Y,Oyamada J,Kitagawa Y,Kato K,Ikematsu K,Nakasono I,Matsushita T,Rokutanda A

    更新日期：2009-10-01 00:00:00

  • Joint analysis of bivariate competing risks survival times and genetic markers data.

    abstract：:Bivariate survival models with discretely distributed frailty based on the major gene concept and applied to the data on related individuals such as twins and sibs can be used to estimate the underlying hazard, the relative risk and the frequency of the longevity allele. To determine the position of the longevity gene...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.80

    authors： Begun A

    更新日期：2013-10-01 00:00:00

  • Participant mothers' attitudes toward genetic analysis in a birth cohort study.

    abstract：:To conduct a long-term birth cohort study that includes genetic analysis, it is crucial to understand the attitudes of participants to genetic analysis and then take appropriate approaches for addressing their ambiguous and negative attitudes. This study aimed to explore participants' attitudes toward genetic analysis...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00894-7

    authors： Yamamoto M,Sakurai K,Mori C,Hata A

    更新日期：2021-01-25 00:00:00

  • An association study between the dymeclin gene and schizophrenia in the Japanese population.

    abstract：:Many gene variants are involved in the susceptibility to schizophrenia and some of them are expected to be associated with other human characters. Recently reported meta-analysis of genetic associations revealed nucleotide variants in synaptic vesicular transport/Golgi apparatus genes with schizophrenia. In this study...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.72

    authors： Yazaki S,Koga M,Ishiguro H,Inada T,Ujike H,Itokawa M,Otowa T,Watanabe Y,Someya T,Iwata N,Kunugi H,Ozaki N,Arinami T

    更新日期：2010-09-01 00:00:00

  • Mutation identification and characterization of a Taiwanese patient with fucosidosis.

    abstract：:Fucosidosis is a rare lysosomal storage disease caused by a defect of the alpha-L: -fucosidase (FUCA1) gene. Worldwide 26 mutations underlying the disease have been reported. By direct DNA sequencing of exons and flanking introns, homozygous Y126X mutation and Q281R polymorphism were found in a Taiwanese patient with ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0136-3

    authors： Lin SP,Chang JH,de la Cadena MP,Chang TF,Lee-Chen GJ

    更新日期：2007-01-01 00:00:00

  • Search for active endogenous retroviruses: identification and characterization of a HERV-E gene that is expressed in the pancreas and thyroid.

    abstract：:To elucidate possible physiological functions of human endogenous retroviruses (HERVs) and their role in the pathogenesis of human diseases, we have developed a strategy to identify transcriptionally active HERV genes. By this approach, we have identified and isolated an active HERV-E gene that was mapped to 17q11. Al...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170012

    authors： Shiroma T,Sugimoto J,Oda T,Jinno Y,Kanaya F

    更新日期：2001-01-01 00:00:00

  • PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.

    abstract：:PLA2G6-associated neurodegeneration (PLAN) comprises heterogeneous neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation 2B, and Parkinson disease 14 (PARK14). In addition, very recently, PLA2G6 mutations have been reported to represent a phenotype of he...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0519-7

    authors： Koh K,Ichinose Y,Ishiura H,Nan H,Mitsui J,Takahashi J,Sato W,Itoh Y,Hoshino K,Tsuji S,Takiyama Y,Japan Spastic Paraplegia Research Consotium.

    更新日期：2019-01-01 00:00:00

  • Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.

    abstract：:Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene. GNPTG encodes the γ-subunit of GlcNAc-1-phosphotransferase that catalyzes mannose 6-phosphate targeting signal synthesis on soluble lysosomal enzymes. ML III gamma patients are characterized by missort...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.13

    authors： Velho RV,Ludwig NF,Alegra T,Sperb-Ludwig F,Guarany NR,Matte U,Schwartz IV

    更新日期：2016-06-01 00:00:00

  • Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese.

    abstract：:Most studies on the genetic basis of human skin pigmentation have focused on people of European ancestry and only a few studies have focused on Asian populations. We investigated the association of skin reflectance and freckling with genetic variants of melanocortin 1 receptor (MC1R) gene in Japanese. DNA samples were...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.96

    authors： Yamaguchi K,Watanabe C,Kawaguchi A,Sato T,Naka I,Shindo M,Moromizato K,Aoki K,Ishida H,Kimura R

    更新日期：2012-11-26 00:00:00

  • Haplotype-based analysis of alpha 2A, 2B, and 2C adrenergic receptor genes captures information on common functional loci at each gene.

    abstract：:The alpha 2-adrenergic receptors (alpha2-AR) mediate physiological effects of epinephrine and norepinephrine. Three genes encode alpha2-AR subtypes carrying common functional polymorphisms (ADRA2A Asn251Lys, ADRA2B Ins/Del301-303 and ADRA2C Ins/Del322-325). We genotyped these functional markers plus a panel of single ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0211-y

    authors： Belfer I,Buzas B,Hipp H,Phillips G,Taubman J,Lorincz I,Evans C,Lipsky RH,Enoch MA,Max MB,Goldman D

    更新日期：2005-01-01 00:00:00

  • Haplotype analysis at the alcohol dehydrogenase gene region in New Zealand Māori.

    abstract：:Alcohol response is a genetically influenced trait, and there is significant variation in the patterns of alcohol consumption between Māori and Caucasians in New Zealand. Previous studies have found that a variant of the alcohol dehydrogenase (ADH) gene (ADH1B*47His) is associated with protection against alcohol depen...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0094-1

    authors： Hall DA,Chambers GK,Lea RA

    更新日期：2007-01-01 00:00:00

  • Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.

    abstract：:In successive reports from 2014 to 2015, X-ray repair cross-complementing protein 4 (XRCC4) has been identified as a novel causative gene of primordial dwarfism. XRCC4 is indispensable for non-homologous end joining (NHEJ), the major pathway for repairing DNA double-strand breaks. As NHEJ is essential for V(D)J recomb...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/jhg.2016.46

    authors： Saito S,Kurosawa A,Adachi N

    更新日期：2016-08-01 00:00:00

  • Confirmation of two novel loci for infantile hypertrophic pyloric stenosis on chromosomes 3 and 5.

    abstract：:Infantile hypertrophic pyloric stenosis (IHPS) is a multifactorial heritable condition affecting infants in the first 3 months of life. It is characterized by hypertrophy of the pylorus resulting in blockage of the pyloric canal. Patients present with projectile vomiting, weight loss and dehydration. Five susceptibili...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.10

    authors： Everett KV,Chung EM

    更新日期：2013-04-01 00:00:00

  • Functional promoter polymorphism in SREBP cleavage-activating protein (SCAP).

    abstract：:We report the identification of a loss-of-function -11C>T promoter mutation in the gene encoding the sterol regulatory element binding protein cleavage-activating protein (SCAP). The -11T allele was associated with a marked reduction in promoter activity in a luciferase-based expression system. We also report addition...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200072

    authors： Cao H,Miskie BA,Hegele RA

    更新日期：2002-01-01 00:00:00

  • No association between the brain-derived neurotrophic factor gene and panic disorder in Japanese population.

    abstract：:Panic disorder (PD) is a severe and chronic psychiatric disorder, with significant genetic components in the etiology. Brain-derived neurotrophic factor (BDNF) gene, which has regulatory effects on neurotransmitter systems such as serotonin and dopamine, is a candidate for susceptibility locus of PD. This study invest...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2009.46

    authors： Otowa T,Shimada T,Kawamura Y,Liu X,Inoue K,Sugaya N,Minato T,Nakagami R,Tochigi M,Umekage T,Kasai K,Kato N,Tanii H,Okazaki Y,Kaiya H,Sasaki T

    更新日期：2009-08-01 00:00:00

  • Human calcitonin receptor-like receptor for adrenomedullin: genomic structure, eight single-nucleotide polymorphisms, and haplotype analysis.

    abstract：:Adrenomedullin (ADM), a peptide characterized by persistent hypotensive activity, is thought to be involved when the control mechanism of blood pressure is deranged, because its plasma concentration is upregulated in hypertensive patients. The receptor for ADM, a molecular complex consisting of calcitonin-receptor-lik...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170100

    authors： Nakazawa I,Nakajima T,Harada H,Ishigami T,Umemura S,Emi M

    更新日期：2001-01-01 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

  • Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

    abstract：:Mature-onset diabetes of the young, type 2 (MODY2) is associated with mutations in the glucokinase (GCK) gene that result in impaired glucokinase activity. Although more than 200 inactivating GCK mutations have been reported, only less than 20% of these mutations have been functionally characterized. In this work, we ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-008-0271-5

    authors： Estalella I,Garcia-Gimeno MA,Marina A,Castaño L,Sanz P

    更新日期：2008-01-01 00:00:00

  • Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion.

    abstract：:Cystic fibrosis is a hereditary disease that mostly affects the sweat glands, respiratory system, digestive system, and reproductive system. Many and various types of mutations have been reported in CFTR in different ethnicities and countries/regions. Analysis of CFTR gene rearrangements is recommended in patients wit...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00859-w

    authors： Duz MB,Ozyavuz Cubuk P

    更新日期：2021-03-01 00:00:00

  • A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia.

    abstract：:Essential hypersomnia (EHS) is a lifelong disorder characterized by excessive daytime sleepiness without cataplexy. EHS is associated with human leukocyte antigen (HLA)-DQB1*06:02, similar to narcolepsy with cataplexy (narcolepsy). Previous studies suggest that DQB1*06:02-positive and -negative EHS are different in te...

    journal_title：Journal of human genetics

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1038/s10038-018-0518-8

    authors： Miyagawa T,Khor SS,Toyoda H,Kanbayashi T,Imanishi A,Sagawa Y,Kotorii N,Kotorii T,Ariyoshi Y,Hashizume Y,Ogi K,Hiejima H,Kamei Y,Hida A,Miyamoto M,Ikegami A,Wada Y,Takami M,Higashiyama Y,Miyake R,Kondo H,Fujimura

    更新日期：2018-12-01 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

  • Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis.

    abstract：:Osteoprotegerin (OPG), a secreted glycoprotein and a member of the tumor necrosis factor receptor superfamily, is considered to play an important role in the regulation of bone resorption by modifying osteoclast differentiation. Overexpression of OPG in mice has been reported to result in osteopetrosis, whereas target...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200058

    authors： Ohmori H,Makita Y,Funamizu M,Hirooka K,Hosoi T,Orimo H,Suzuki T,Ikari K,Nakajima T,Inoue I,Hata A

    更新日期：2002-01-01 00:00:00

  • A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome.

    abstract：:Mutations in CDH1, which encodes E-cadherin, have been associated with hereditary diffuse gastric cancer (HDGC) in Western populations but have not been shown to play a major role in Asians. Recently, a patient with familial gastric cancer (FGC) was shown to harbor a germline mutation in the TP53 gene, which encodes p...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0193-9

    authors： Kim IJ,Kang HC,Shin Y,Park HW,Jang SG,Han SY,Lim SK,Lee MR,Chang HJ,Ku JL,Yang HK,Park JG

    更新日期：2004-01-01 00:00:00

  • Identification of novel candidate loci for anorexia nervosa at 1q41 and 11q22 in Japanese by a genome-wide association analysis with microsatellite markers.

    abstract：:The Japanese Genetic Research Group for Eating Disorders (JGRED) is a multisite collaborative study group that was organized for the systematic recruitment of patients with an eating disorder for the purpose of genetic study in Japan. We conducted a genome-wide case-control association study using 23 465 highly polymo...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1038/jhg.2009.74

    authors： Nakabayashi K,Komaki G,Tajima A,Ando T,Ishikawa M,Nomoto J,Hata K,Oka A,Inoko H,Sasazuki T,Japanese Genetic Research Group for Eating Disorders (JGRED).,Shirasawa S

    更新日期：2009-09-01 00:00:00

  • New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

    abstract：:Congenital myopathies (CMs) are a heterogeneous group of muscle diseases characterized by hypotonia, delayed motor skills and muscle weakness with onset during the first years of life. The diagnostic workup of CM is highly dependent on the interpretation of the muscle histology, where typical pathognomonic findings ar...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.2

    authors： Oliveira J,Gonçalves A,Taipa R,Melo-Pires M,Oliveira ME,Costa JL,Machado JC,Medeiros E,Coelho T,Santos M,Santos R,Sousa M

    更新日期：2016-06-01 00:00:00

  • Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia.

    abstract：:The importance of epigenetic control in the development of the central nervous system has recently been attracting attention. Methylation patterns of lysine 4 and lysine 36 in histone H3 (H3K4 and H3K36) in the central nervous system are highly conserved among species. Numerous complications of body malformations and ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00889-4

    authors： Yokotsuka-Ishida S,Nakamura M,Tomiyasu Y,Nagai M,Kato Y,Tomiyasu A,Umehara H,Hayashi T,Sasaki N,Ueno SI,Sano A

    更新日期：2021-01-06 00:00:00

  • The SCARB1 gene is associated with lipid response to dietary and pharmacological interventions.

    abstract：:The scavenger receptor class B type 1 (SCARB1) gene is a key component in the reverse cholesterol transport pathway and thus plays an important role in lipid metabolism. Studies suggest that the SCARB1 gene may contribute to variation in plasma lipid levels at fasting; however, the results have been inconsistent, and ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-008-0302-2

    authors： Liu Y,Ordovas JM,Gao G,Province M,Straka RJ,Tsai MY,Lai CQ,Zhang K,Borecki I,Hixson JE,Allison DB,Arnett DK

    更新日期：2008-01-01 00:00:00

  • Human endogenous retroviruses with transcriptional potential in the brain.

    abstract：:Genetic studies of neuropsychiatric disorders have often produced conflicting results, which might partly result from the involvement of epigenetic modifications. We intended to explore the possible implication of DNA methylation and human endogenous retroviruses (HERVs) in neuropsychiatric disorders. In the present s...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0081-8

    authors： Nakamura A,Okazaki Y,Sugimoto J,Oda T,Jinno Y

    更新日期：2003-01-01 00:00:00

  • Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population.

    abstract：:There is evidence that the obesity phenotype in the Caucasian populations is associated with variations in several genes, including neuronal growth regulator 1 (NEGR1), SEC16 homolog B (SCE16B), transmembrane protein 18 (TMEM18), ets variant 5 (ETV5), glucosamine-6-phosphate deaminase 2 (GNPDA2), prolactin (PRL), brai...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2009.106

    authors： Hotta K,Nakamura M,Nakamura T,Matsuo T,Nakata Y,Kamohara S,Miyatake N,Kotani K,Komatsu R,Itoh N,Mineo I,Wada J,Masuzaki H,Yoneda M,Nakajima A,Funahashi T,Miyazaki S,Tokunaga K,Kawamoto M,Ueno T,Hamaguchi K,Tanak

    更新日期：2009-12-01 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