当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Association of an intragenic microsatellite marker in the CC16 gene with asthma in the Indian population.

Association of an intragenic microsatellite marker in the CC16 gene with asthma in the Indian population.

Abstract：

:The gene for Clara cell secretory protein (CC16) is an ideal candidate for investigating genetic predisposition to asthma because of its role in the airway as an anti-inflammatory molecule, differences in its levels between asthmatics and healthy controls, and its genetic location (11q13). We investigated the association of an SNP (A38G) and an intragenic repeat polymorphism in the CC16 gene with asthma and its associated traits, such as total serum IgE levels, in a case control as well as in a family based study design. A significant association was observed for the microsatellite repeat at the level of alleles and genotypes with asthma (P<0.05) in both the study designs. However, no association was observed for the A38G SNP with asthma. When haplotypes were constructed for these two loci and compared, the haplotype A_18 was found at higher frequency in patients (OR=1.59, 95%CI=1.08, 2.33, P=0.016). Also, in the family based design, a biased transmission was observed for haplotypes from parents to affected offspring (P=0.003). Individually, haplotype A_18 showed preferential transmission (82.6%) to affected offspring (P=0.001), thereby confirming the case-control results. In summary, this is the first study identifying the CC16 gene to be associated with asthma in the Indian population.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Sharma S,Ghosh B

doi

10.1007/s10038-004-0206-8

keywords:

subject

Has Abstract

pub_date

2004-01-01 00:00:00

pages

677-683

issue

12

eissn

1434-5161

issn

1435-232X

pii

10.1007/s10038-004-0206-8

journal_volume

49

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

    abstract：:Methylation-specific (MS) multiplex ligation-dependent probe amplification (MLPA) at two differentially methylated regions (DMRs) at chromosome 11p15, H19-DMR and LIT1-DMR, and microsatellite analysis for uniparental disomy (UPD) at chromosome 7 or 11, have been recommended for the genetic diagnosis of the Beckwith-Wi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.67

    authors： Lee BH,Kim GH,Oh TJ,Kim JH,Lee JJ,Choi SH,Lee JY,Kim JM,Choi IH,Kim YM,Choi JH,Yoo HW

    更新日期：2013-09-01 00:00:00

  • Genetic effects have a dominant role on poor responses to infant vaccination to hepatitis B virus.

    abstract：:The objective of this study was to investigate the overall contribution of genetic and environmental effects on poor response to hepatitis B virus (HBV) vaccination in Chinese infants. One-year-old healthy twins were recruited from child-care settings. Parental factors, neonates' condition at birth, postnatal infant f...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.18

    authors： Yan K,Cai W,Cao F,Sun H,Chen S,Xu R,Wei X,Shi X,Yan W

    更新日期：2013-05-01 00:00:00

  • Preferential reduction of dicentrics in reciprocal exchanges due to the combination of the size of broken chromosome segments by radiation.

    abstract：:Induction rates of the dicentrics and translocations involving chromosomes 2 and 4 in peripheral lymphocytes irradiated with X-rays at a dose of 3 Gy were examined using a conventional Giemsa staining method and a chromosome painting method. In total, 228 reciprocal exchanges detected in 982 metaphases were classified...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0071-x

    authors： Zhang W,Hayata I

    更新日期：2003-01-01 00:00:00

  • Phylogeny of Y-chromosome haplogroup C3b-F1756, an important paternal lineage in Altaic-speaking populations.

    abstract：:In previous studies, a specific paternal lineage with a null value for the Y-chromosome short tandem repeat (Y-STR) marker DYS448 was identified as common among Mongolic- and Turkic-speaking populations. This paternal lineage (temporarily named C3*-DYS448del) was determined to be M217+, M93-, P39-, M48-, M407-, and P5...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2017.60

    authors： Wei LH,Huang YZ,Yan S,Wen SQ,Wang LX,Du PX,Yao DL,Li SL,Yang YJ,Jin L,Li H

    更新日期：2017-10-01 00:00:00

  • Identification of three missense mutations in the peroxisome proliferator-activated receptor alpha gene in Japanese subjects with maturity-onset diabetes of the young.

    abstract：:We screened the protein-coding region of the peroxisome proliferator-activated receptor alpha gene (PPARA) and the flanking intron sequences for mutations in 57 unrelated Japanese subjects with maturity-onset diabetes of the young (MODY). We found three missense mutations, designated P22R, D140Y, and V227A. The D140Y ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170080

    authors： Hara M,Wang X,Paz VP,Iwasaki N,Honda M,Iwamoto Y,Bell GI

    更新日期：2001-01-01 00:00:00

  • The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.

    abstract：:Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). In this study of the PAH mutation spectrum in the Taiwanese population, 139 alleles were identified including 34 different mutations. The V190G, Q267R and F392I mutations are first reported in this study. The most common...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.136

    authors： Liang Y,Huang MZ,Cheng CY,Chao HK,Fwu VT,Chiang SH,Hsiao KJ,Niu DM,Su TS

    更新日期：2014-03-01 00:00:00

  • KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients.

    abstract：:The widely used Western BRCA mutation prediction models underestimated the risk of having a BRCA mutation in Korean breast cancer patients. This study aimed to identify predictive factors for BRCA1/2 mutations and to develop a Korean BRCA risk calculator. The model was constructed by logistic regression model, and it ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2015.164

    authors： Kang E,Park SK,Lee JW,Kim Z,Noh WC,Jung Y,Yang JH,Jung SH,Kim SW

    更新日期：2016-05-01 00:00:00

  • Transitional change in interaction between HIF-1 and HNF-4 in response to hypoxia.

    abstract：:The roles of the erythropoietin (Epo) 3' enhancer in the activation of gene expression in response to hypoxia were investigated. The enhancer contains hypoxia-inducible enhancer binding site 1 (HIF-1 element) and two direct repeats of hexanucleotide consensus nuclear receptor half site (HNF-4 element). HIF-1, which is...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050163

    authors： Zhang W,Tsuchiya T,Yasukochi Y

    更新日期：1999-01-01 00:00:00

  • Adult onset limb-girdle type mitochondrial myopathy with a mitochondrial DNA np8291 A-to-G substitution.

    abstract：:We analyzed mitochondrial DNA (mtDNA) from 7 patients in four families with adult onset limb-girdle type mitochondrial myopathy to clarify their genetic background. The patients, 2 men and 5 women, showed common clinical features, characterized by isolated skeletal myopathy, high serum creatine kinase level, ragged-re...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050145

    authors： Hirata K,Nakagawa M,Higuchi I,Hashimoto K,Hanada K,Takahashi K,Niiyama T,Izumi K,Sakoda S,Yamada H,Osame M

    更新日期：1999-01-01 00:00:00

  • No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population.

    abstract：:Ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1, also known as PC-1) inhibits insulin signal transduction pathway(s). Previous studies have demonstrated the K121Q variant of the ENPP1 gene to have a significant functional role in determining susceptibility to insulin resistance and type 2 diabetes (T2D). To...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0399-0

    authors： Keshavarz P,Inoue H,Sakamoto Y,Kunika K,Tanahashi T,Nakamura N,Yoshikawa T,Yasui N,Shiota H,Itakura M

    更新日期：2006-01-01 00:00:00

  • The effect of genetic polymorphisms in the vinyl chloride metabolic pathway on mutagenic risk.

    abstract：:Vinyl chloride (VC) is a human carcinogen known to undergo metabolism by cytochrome P450 2E1 (CYP2E1) to reactive intermediates that can cause oncogene and tumor suppressor gene mutations and that are further metabolized by acetaldehyde dehydrogenase (ALDH2) and glutathione-S-transferases (GSTs) to non-mutagenic end p...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0134-5

    authors： Schindler J,Li Y,Marion MJ,Paroly A,Brandt-Rauf PW

    更新日期：2007-01-01 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

  • Effect of enzyme replacement therapy on the growth of patients with Morquio A.

    abstract：:Mucopolysaccharidosis IVA (MPS IVA) is a degenerative systemic skeletal dysplasia, in which children exhibit marked short stature and become physically handicapped. This study evaluated the growth patterns of patients treated with enzyme replacement therapy (ERT), compared with those of untreated patients. Cross-secti...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-019-0604-6

    authors： Doherty C,Stapleton M,Piechnik M,Mason RW,Mackenzie WG,Yamaguchi S,Kobayashi H,Suzuki Y,Tomatsu S

    更新日期：2019-07-01 00:00:00

  • A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation.

    abstract：:We report the case of a 12 year-old boy with oto-palato-digital syndrome type II (OPD II). He had various anomalies at birth, including bilateral cataracts, bilateral glaucoma, bilateral severe hearing impairment, congenital heart defect, umbilical herniation, bowed extremities and constrictions of various joints. The...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0108-7

    authors： Kondoh T,Okamoto N,Norimatsu N,Uetani M,Nishimura G,Moriuchi H

    更新日期：2007-01-01 00:00:00

  • Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

    abstract：:A few mutations in the gene encoding the gamma 2 subunit of the gamma-aminobutyric acid receptor type A (GABRG2) have been reported in various types of epilepsy. The aim of this study is to investigate the role of GABRG2 in the pathogenesis of childhood epilepsy in a large Japanese cohort. Genetic analysis of GABRG2 w...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.47

    authors： Shi X,Huang MC,Ishii A,Yoshida S,Okada M,Morita K,Nagafuji H,Yasumoto S,Kaneko S,Kojima T,Hirose S

    更新日期：2010-06-01 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

  • 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

  • Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population.

    abstract：:Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase ( MTHFR) gene is a risk factor for neural tube defects (NTDs) in many populations, including Italians. Another common mutation on the MTHFR gene, A1298C, has also been described as a risk mutation. Furthermore, several studies have suggeste...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200043

    authors： De Marco P,Calevo MG,Moroni A,Arata L,Merello E,Finnell RH,Zhu H,Andreussi L,Cama A,Capra V

    更新日期：2002-01-01 00:00:00

  • Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.

    abstract：:Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic hearing loss. Recently, homozygous loss-of-function variants have been reported in two patients with syndromic intellectual disability, with or without hearing loss. However, the clinical and molecular spectrum of SLC12A2 disease ha...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-021-00904-2

    authors： Bilal Shamsi M,Saleh M,Almuntashri M,Alharby E,Samman M,Peake RWA,Al-Fadhli FM,Alasmari A,Faqeih EA,Almontashiri NAM

    更新日期：2021-01-27 00:00:00

  • A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.

    abstract：:Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies with lack of myelination of the posterior limb of the internal capsule, brainstem tracts, and ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-0765-3

    authors： Sakamoto M,Kouhei D,Haniffa M,Silva S,Troncoso M,Santander P,Schonstedt V,Stecher X,Okamoto N,Hamanaka K,Mizuguchi T,Mitsuhashi S,Miyake N,Matsumoto N

    更新日期：2020-09-01 00:00:00

  • Expression profiles of two types of human knee-joint cartilage.

    abstract：:We have performed a comprehensive analysis of gene-expression profiles in human articular cartilage (hyaline cartilage) and meniscus (fibrocartilage) by means of a cDNA microarray consisting of 23,040 human genes. Comparing the profiles of the two types of cartilage with those of 29 other normal human tissues identifi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0004-8

    authors： Ochi K,Daigo Y,Katagiri T,Saito-Hisaminato A,Tsunoda T,Toyama Y,Matsumoto H,Nakamura Y

    更新日期：2003-01-01 00:00:00

  • Anticipation in Japanese families with schizophrenia.

    abstract：:The identification of anticipation in schizophrenia is a recent focus in the genetic epidemiology of schizophrenia, although it involves some controversial methodological issues. We explored the evidence of anticipation among 44 Japanese two-generation pairs with schizophrenia found by reviewing nine years of admissio...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050076

    authors： Imamura A,Honda S,Nakane Y,Okazaki Y

    更新日期：1998-01-01 00:00:00

  • A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

    abstract：:In mammals, X-linked gene products can be dosage compensated between males and females by inactivation of one of the two X chromosomes in the developing female embryos. X inactivation choice is usually random in embryo mammals, but several mechanisms can influence the choice determining skewed X inactivation. As a con...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0049-6

    authors： Cau M,Addis M,Congiu R,Meloni C,Cao A,Santaniello S,Loi M,Emma F,Zuffardi O,Ciccone R,Sole G,Melis MA

    更新日期：2006-01-01 00:00:00

  • Robust imaging and gene delivery to study human lymphoblastoid cell lines.

    abstract：:Lymphoblastoid cell lines (LCLs) have been by far the most prevalent cell type used to study the genetics underlying normal and disease-relevant human phenotypic variation, across personal to epidemiological scales. In contrast, only few studies have explored the use of LCLs in functional genomics and mechanistic stud...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0483-2

    authors： Jolly LA,Sun Y,Carroll R,Homan CC,Gecz J

    更新日期：2018-09-01 00:00:00

  • Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.

    abstract：:Autosomal dominant nonsyndromic hearing loss (ADNSHL/DFNA) is a highly genetically heterogeneous disorder. Hitherto only about 30 ADNSHL-causing genes have been identified and many unknown genes remain to be discovered. In this research, genome-wide linkage analysis mapped the disease locus to a 4.3 Mb region on chrom...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.114

    authors： Wang H,Wang X,He C,Li H,Qing J,Grati M,Hu Z,Li J,Hu Y,Xia K,Mei L,Wang X,Yu J,Chen H,Jiang L,Liu Y,Men M,Zhang H,Guan L,Xiao J,Zhang J,Liu X,Feng Y

    更新日期：2015-03-01 00:00:00

  • Variant in ERAP1 promoter region is associated with low expression in a patient with a Behçet-like MHC-I-opathy.

    abstract：:Behçet disease (BD) is an immune-mediated disease. The cause of BD remains unknown, but the existence of multiple pathological pathways is suspected, including different genetic factors. Polymorphisms in ERAP1 gene have been associated with an increased risk of BD. However, while current BD-associated ERAP1 variants a...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-019-0709-y

    authors： Dimopoulou C,Lundgren JD,Sundal J,Ullum H,Aukrust P,Nielsen FC,Marvig RL

    更新日期：2020-03-01 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 CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.

    abstract：:Sinoatrial node dysfunction and deafness (SANDD) syndrome is rare and characterized by a low heart beat and severe-to-profound deafness. Additional features include fatigue, dizziness, and episodic syncope. The sinoatrial node (SAN) drives heart automaticity and continuously regulates heart rate. The CACNA1D gene enco...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0542-8

    authors： Liaqat K,Schrauwen I,Raza SI,Lee K,Hussain S,Chakchouk I,Nasir A,Acharya A,Abbe I,Umair M,Ansar M,Ullah I,Shah K,University of Washington Center for Mendelian Genomics.,Bamshad MJ,Nickerson DA,Ahmad W,Leal SM

    更新日期：2019-02-01 00:00:00

  • Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability.

    abstract：:Although large deletions in the dystrophin gene have been identified in more than two-thirds of Duchenne and Becker muscular dystrophy patients, the molecular mechanisms that lead to the generation of these deletions are largely unknown. Here, Alu and LINE-1 (L1) repetitive elements were shown to be present at one or ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380070003

    authors： Suminaga R,Takeshima Y,Yasuda K,Shiga N,Nakamura H,Matsuo M

    更新日期：2000-01-01 00:00:00

  • Regulation of LOXL2 and SERPINH1 by antitumor microRNA-29a in lung cancer with idiopathic pulmonary fibrosis.

    abstract：:Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive lung disease that is refractory to treatment and carries a high mortality rate. IPF is frequently associated with lung cancer. Identification of molecular targets involved in both diseases may elucidate novel molecular mechanisms contributing to their patho...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.99

    authors： Kamikawaji K,Seki N,Watanabe M,Mataki H,Kumamoto T,Takagi K,Mizuno K,Inoue H

    更新日期：2016-12-01 00:00:00