当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis.

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 targeted disruption of OPG in mice has been associated with osteoporosis. Accordingly, OPG could be a strong candidate gene for susceptibility to human osteoporosis. Here, we analyzed whether OPG is involved in the etiology of osteoporosis using both linkage and association analyses. We recruited 164 sib pairs in Gunma prefecture, which is located in the central part of Honshu (mainland Japan), for a linkage study, and 394 postmenopausal women in Akita prefecture, which is in the northern part of Honshu, for an association study. We identified two microsatellite polymorphisms in the linkage study, and six single-nucleotide polymorphisms (SNPs) in the OPG region for the association study. Although, no evidence of significant linkage between OPG and osteoporosis was found, a possible association of one SNP, located in the promoter region of the gene, was identified. A haplotype analysis with the six SNPs revealed that four major haplotypes account for 71% of the alleles in the Japanese population.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

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

doi

10.1007/s100380200058

keywords:

subject

Has Abstract

pub_date

2002-01-01 00:00:00

pages

400-6

issue

8

eissn

1434-5161

issn

1435-232X

journal_volume

47

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • 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

  • GNE myopathy in Chinese population: hotspot and novel mutations.

    abstract：:GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the bi-functional enzyme critical for sialic acid biosynthesis. In this study, we summarized the clinical features, pathological characteristics, and genetic profiles ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0525-9

    authors： Chen Y,Xi J,Zhu W,Lin J,Luo S,Yue D,Cai S,Sun C,Zhao C,Mitsuhashi S,Nishino I,Xu M,Lu J

    更新日期：2019-01-01 00:00:00

  • Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.

    abstract：:We present a 3⅓-year-old girl with severe Charcot-Marie-Tooth disease type 1 (Dejerine-Sottas disease), who was a compound heterozygote carrying a deletion of the whole peripheral myelin protein 22 (PMP22) and a deletion of exon 5 in the other PMP22 allele. Haplotype analyses and sequence determination revealed a 11.2...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.106

    authors： Abe A,Nakamura K,Kato M,Numakura C,Honma T,Seiwa C,Shirahata E,Itoh A,Kishikawa Y,Hayasaka K

    更新日期：2010-11-01 00:00:00

  • The ADD1 G460W polymorphism is not associated with variation in blood pressure in Canadian Oji-Cree.

    abstract：:Since adducin modulates cellular sodium retention, its follows that ADD1, which encodes the alpha-subunit of adducin, is an attractive candidate gene for blood pressure variation. Association studies examining the relationship between polymorphism at ADD1 codon 460 (G460W) and both hypertension and blood pressure, whi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050148

    authors： Busch CP,Harris SB,Hanley AJ,Zinman B,Hegele RA

    更新日期：1999-01-01 00:00:00

  • A combined linkage and association strategy identifies a variant near the GSTP1 gene associated with BMI in the Mexican population.

    abstract：:Obesity is a major public health concern in Mexico and worldwide. Although the estimated heritability is high, common variants identified by genome-wide association studies explain only a small proportion of this heritability. A combination of linkage and association strategies could be a more robust and powerful appr...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.145

    authors： Villamil-Ramírez H,León-Mimila P,Macias-Kauffer LR,Canizalez-Román A,Villalobos-Comparán M,León-Sicairos N,Vega-Badillo J,Sánchez-Muñoz F,López-Contreras B,Morán-Ramos S,Villarreal-Molina T,Zurita LC,Campos-Pérez F,Huertas-Vazq

    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

  • Long-read sequencing for rare human genetic diseases.

    abstract：:During the past decade, the search for pathogenic mutations in rare human genetic diseases has involved huge efforts to sequence coding regions, or the entire genome, using massively parallel short-read sequencers. However, the approximate current diagnostic rate is <50% using these approaches, and there remain many r...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/s10038-019-0671-8

    authors： Mitsuhashi S,Matsumoto N

    更新日期：2020-01-01 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

  • The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.

    abstract：:Type 2 diabetes mellitus (T2DM) is a group of multifactorial disorders due to either defective insulin secretion or action. Despite the fact that numerous genetic researches of T2DM have been pursued, the pathogenic mechanisms remain obscure. We encountered a T2DM family associated with a balanced reciprocal transloca...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0158-z

    authors： Kamimura J,Wakui K,Kadowaki H,Watanabe Y,Miyake K,Harada N,Sakamoto M,Kinoshita A,Yoshiura KI,Ohta T,Kishino T,Ishikawa M,Kasuga M,Fukushima Y,Niikawa N,Matsumoto N

    更新日期：2004-01-01 00:00:00

  • Novel locus for fibrinogen in 3' region of LEPR gene in island population of Vis (Croatia).

    abstract：:Leptin, a possible mediator between energy homeostasis, inflammation and cardiovascular disease (CVD), acts via leptin receptors. We investigated association of single-nucleotide polymorphisms (SNPs) and haplotypes of the leptin receptor gene (LEPR) with several CVD risk factors: body mass index, waist circumference (...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.82

    authors： Tomas Ž,Petranović MZ,Škarić-Jurić T,Barešić A,Salihović MP,Narančić NS

    更新日期：2014-11-01 00:00:00

  • Strategies for genome-wide association studies: optimization of study designs by the stepwise focusing method.

    abstract：:Recently, the use of genome-wide linkage disequilibrium (LD) analysis to localize traits has attracted much attention because of the introduction of high-throughput genotyping systems. However, a limitation of such studies is often the total cost of genotyping in addition to sample size. Therefore, it is important to ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200050

    authors： Saito A,Kamatani N

    更新日期：2002-01-01 00:00:00

  • Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis.

    abstract：:Germline mutations of the EVER1/TMC6 gene are associated with epidermodysplasia verruciformis (EV), which is characterized by an abnormal susceptibility to human papillomaviruses that were considered to be innocuous for the general population. In this study, we have employed polymerase chain reaction and DNA sequencin...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0135-6

    authors： Tate G,Suzuki T,Kishimoto K,Mitsuya T

    更新日期：2004-01-01 00:00:00

  • Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.

    abstract：:Androgen insensitivy syndrome (AIS) is the most frequent cause of male pseudohermaphroditism resulting from target-organ resistance to androgen action. Individuals bearing the complete form of the disease (CAIS) present a female phenotype and a lack of pubic and axillary hair. In the present study, four 46,XY patients...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0036-0

    authors： Vilchis F,Ramos L,Kofman-Alfaro S,Zenteno JC,Méndez JP,Chávez B

    更新日期：2003-01-01 00:00:00

  • Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.

    abstract：:We report the clinical and biochemical findings from a patient who presented with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal-dominant disorder characterized by optic atrophy, developmental delay and intellectual disability. In addition, the patient also displays hypotonia, stroke-like episodes...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-017-0398-3

    authors： Martín-Hernández E,Rodríguez-García ME,Chen CA,Cotrina-Vinagre FJ,Carnicero-Rodríguez P,Bellusci M,Schaaf CP,Martínez-Azorín F

    更新日期：2018-04-01 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

  • Linkage disequilibrium and haplotype analysis among ten single-nucleotide polymorphisms of interleukin 11 identified by sequencing of the gene.

    abstract：:Interleukin (IL11) is a member of the interleukin 6 (IL6)-related cytokine subfamily, which stimulates T cell-dependent development of immunoglobulin-producing B cells. IL11 is also an important paracrine regulator of bone metabolism that induces formation of osteoclasts. In the work reported here, we sequenced the en...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170052

    authors： Shinohara Y,Ezura Y,Iwasaki H,Nakazawa I,Ishida R,Kodaira M,Kajita M,Shiba T,Emi M

    更新日期：2001-01-01 00:00:00

  • A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.

    abstract：:X-linked inheritance is very rare and is estimated to account for only 1-5% of all nonsyndromic hearing loss cases. We found a multiplex family from China segregating with X-linked nonsyndromic hearing loss. After exclusive analysis of 10 common variations of three hearing loss-related genes, GJB2, mtDNA12srRNA and SL...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0443-x

    authors： Deng Y,Niu Z,Fan L,Ling J,Chen H,Cai X,Mei L,He C,Zhang X,Wen J,Li M,Li W,Li T,Sang S,Liu Y,Feng Y

    更新日期：2018-06-01 00:00:00

  • The short-term mortality and morbidity of very low birth weight infants with trisomy 18 or trisomy 13 in Japan.

    abstract：:Trisomy 18 (T18) and trisomy 13 (T13) are major concerns in prenatal genetic testing due to their poor prognosis; very low birth weight (VLBW) is also a concern in neonatology. The aim of this study was to investigate the mortality and morbidity of VLBW infants diagnosed with T18/T13 in Japan, compared with those with...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00825-6

    authors： Kawasaki H,Yamada T,Takahashi Y,Nakayama T,Wada T,Kosugi S,Neonatal Research Network of Japan.

    更新日期：2021-03-01 00:00:00

  • Family-based analysis of vitamin D receptor gene polymorphisms and type 1 diabetes in the population of South Croatia.

    abstract：:Type 1 diabetes mellitus (T1DM) is a disease characterised by the autoimmune destruction of insulin-producing pancreatic beta cells. Vitamin D is a known immune system modulator and its effects are exerted via the vitamin D receptor (VDR). Several VDR gene single nucleotide polymorphisms (SNPs) have been commonly stud...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0234-2

    authors： Boraska V,Škrabić V,Zeggini E,Groves CJ,Buljubašić M,Peruzović M,Zemunik T

    更新日期：2008-01-01 00:00:00

  • Association between four SNPs on chromosome 9p21 and myocardial infarction is replicated in an Italian population.

    abstract：:Genome-wide single nucleotide polymorphism (SNP) association studies recently identified four SNPs (rs10757274, rs2383206, rs2383207, and rs10757278) on chromosome 9p21 that were associated with coronary artery disease (CAD) and myocardial infarction (MI) in Caucasian populations from northern Europe and North America...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0230-6

    authors： Shen GQ,Rao S,Martinelli N,Li L,Olivieri O,Corrocher R,Abdullah KG,Hazen SL,Smith J,Barnard J,Plow EF,Girelli D,Wang QK

    更新日期：2008-01-01 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

  • Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.

    abstract：:The 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA; Online Mendelian Inheritance in Man [OMIN] #117210) is one of the most common ADCAs in Japan. Previously, we had reported that the patients share a common haplotype by founder effect and that a C-to-T substitution (-16C>T) in the puratrophin-1 gene was...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0154-1

    authors： Amino T,Ishikawa K,Toru S,Ishiguro T,Sato N,Tsunemi T,Murata M,Kobayashi K,Inazawa J,Toda T,Mizusawa H

    更新日期：2007-01-01 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

  • 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

  • A new haplogroup pattern displayed in Fujian Han in China.

    abstract：:Human Y-chromosomal binary polymorphisms have been considered to preserve the paternal genetic legacy and provide evidence on human evolution and the genetic relationships among and demographic history of different populations. To reveal the genetic origin and immigration of the Fujian Han, 13 binary markers on the Y ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200008

    authors： Yu M,Zhang Y,Xue Y,Chen F,Wang Q,Huang X,Wang B,Yu Y,Liu A,Ma L,Shi R,Lu F,Shi Z,Zhang Y,Cheng W,Ai Q,Xu F,Huang C,Chen B,Yang H,Kang X,Sun Y,Zhang G,Li P,Fu S

    更新日期：2002-01-01 00:00:00

  • De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva.

    abstract：:Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disease with autosomal dominant transmission characterized by the presence of malformations of the big toes and of postnatal progressive heterotopic endochondral osteogenesis. We report the case of 3-year-old girl with dysplasia of the first metatarsal b...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0069-2

    authors： Lin GT,Chang HW,Liu CS,Huang PJ,Wang HC,Cheng YM

    更新日期：2006-01-01 00:00:00

  • Association study using combination analysis of SNP and STRP markers: CD14 promoter polymorphism and IgE level in Taiwanese asthma children.

    abstract：:Chromosome 5, especially the 5q31-33 region, may contain one or more loci to control total serum IgE as well as asthma and bronchial hyperresponsiveness. To investigate the regions related with IgE level in chromosome 5, we performed a case-control association study on 105 high-IgE-level and 85 normal-IgE-level asthma...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0215-7

    authors： Wang JY,Wang LM,Lin CG,Chang AC,Wu LS

    更新日期：2005-01-01 00:00:00

  • Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy.

    abstract：:Dent's disease (DD) involves nephrocalcinosis, urolithiasis, hypercalciuria, LMW proteinuria, and renal failure in various combinations. Males are affected. It is caused by mutations in the chloride channel CLCN5 gene. It has been suggested that DD is underdiagnosed, occurring in less overt forms, apparently without f...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-005-0317-x

    authors： Tosetto E,Graziotto R,Artifoni L,Nachtigal J,Cascone C,Conz P,Piva M,Dell'Aquila R,De Paoli Vitali E,Citron L,Nalesso F,Antonello A,Vertolli U,Zagatti R,Lupo A,D'Angelo A,Anglani F,Gambaro G

    更新日期：2006-01-01 00:00:00

  • Regions of homozygosity in three Southeast Asian populations.

    abstract：:The genomes of outbred populations were first shown in 2006 to contain regions of homozygosity (ROHs) of several megabases. Further studies have also investigated the characteristics of ROHs in healthy individuals in various populations but there are no studies on Singapore populations to date. This study aims to iden...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.132

    authors： Teo SM,Ku CS,Salim A,Naidoo N,Chia KS,Pawitan Y

    更新日期：2012-02-01 00:00:00