当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.

Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.

Abstract：

:Several lines of evidence suggest that in Caucasian populations, mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene are associated with susceptibility to lung disease caused by nontuberculous mycobacteria (NTM). However, there is little data available in Asian populations, in which the prevalence of CF is very low. Therefore, we investigated this potential relationship in a Korean population. Sixty patients who fulfilled the diagnostic criteria for NTM lung disease were screened for genetic alterations in the CFTR gene by whole-exon resequencing. For all identified CFTR gene variants, matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) genotyping was performed. Genotype and haplotype data were compared between 360 patients with NTM lung disease and 446 healthy controls. Among 13 CFTR genetic variants that were found by whole-exon resequencing, Q1352H showed a significantly higher frequency in NTM patients than in controls, giving an odds ratio (OR) of 4.27 (95% confidence interval (CI), 1.43-12.78). A haplotype with Q1352H showed the strongest association with the disease, with an OR of 3.73 (95% CI, 1.50-9.25). Furthermore, all Q1352H alleles were associated with the V allele of the V470M variant. Our results suggest that CFTR gene variants may increase susceptibility to NTM lung disease in the Korean population. Q1352H appears to be strongly related to NTM lung disease susceptibility in the Korean population.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Jang MA,Kim SY,Jeong BH,Park HY,Jeon K,Kim JW,Ki CS,Koh WJ

doi

10.1038/jhg.2013.19

subject

Has Abstract

pub_date

2013-05-01 00:00:00

pages

298-303

issue

5

eissn

1434-5161

issn

1435-232X

pii

jhg201319

journal_volume

58

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population.

    abstract：:Autosomal dominant cerebellar ataxia (ADCA) is a genetically heterogeneous group of neurodegenerative disorders with overlapping clinical presentation. Recently, a single nucleotide substitution in the 5'-untranslated region (UTR) of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 has been shown to be associate...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0372-y

    authors： Wieczorek S,Arning L,Alheite I,Epplen JT

    更新日期：2006-01-01 00:00:00

  • Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.

    abstract：:Mutation analysis of the PDS gene and the EYA1 gene, which are reported to be responsible for hearing loss associated with ear anomalies, was performed in 24 deaf patients with various middle and inner ear anomalies. The present study was done to clarify the spectrum of middle and inner ear malformations covered by th...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170033

    authors： Namba A,Abe S,Shinkawa H,Kimberling WJ,Usami SI

    更新日期：2001-01-01 00:00:00

  • Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.

    abstract：:L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive neurometabolic disorder characterized essentially by the presence of elevated levels of L-2-hydroxyglutaric acid (LGA) in plasma, cerebrospinal fluid and urine. L2HGA is caused by a deficiency in the L2-Hydroxyglutaric dehydrogenase (L2HGDH) enzyme involve...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.4

    authors： Jellouli NK,Hadj Salem I,Ellouz E,Kamoun Z,kamoun F,tlili A,Kaabachi N,Triki C,Fakhfakh F,Tunisian Network on Mental Retardation study.

    更新日期：2014-04-01 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

  • Isolation and radiation hybrid mapping of a highly polymorphic CA repeat sequence at the human nuclear factor kappa-beta subunit 1 (NFKB1) locus.

    abstract：:The transcriptional factor nuclear factor kappa-beta (NFKB) consists of a multicomponent protein complex that plays a major role in the regulation of many viral and cellular genes. The NFKB complex has two alternative DNA binding subunits. We isolated a polymorphic dinucleotide (CA) repeat sequence from a genomic clon...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050125

    authors： Ota N,Nakajima T,Shirai Y,Emi M

    更新日期：1999-01-01 00:00:00

  • Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

    abstract：:The cblC type of combined methylmalonic aciduria (MMA) and homocystinuria (HC) is the most common inborn error of vitamin B(12) metabolism and is caused by mutations in the MMACHC gene. To elucidate the spectrum of mutations that causes combined MMA and HC in Chinese patients, the MMACHC gene was sequenced in 79 unrel...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.81

    authors： Liu MY,Yang YL,Chang YC,Chiang SH,Lin SP,Han LS,Qi Y,Hsiao KJ,Liu TT

    更新日期：2010-09-01 00:00:00

  • A two-stage case-control association study of the dihydropyrimidinase-like 2 gene (DPYSL2) with schizophrenia in Japanese subjects.

    abstract：:We examined the association of schizophrenia (SCZ) and dihydropyrimidinase-like 2 (DPYSL2), also known as collapsin response mediator protein 2, which regulates axonal growth and branching. We genotyped 20 tag single nucleotide polymorphisms (SNPs) in 1464 patients and 1310 controls. There were two potential associati...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.38

    authors： Koide T,Aleksic B,Ito Y,Usui H,Yoshimi A,Inada T,Suzuki M,Hashimoto R,Takeda M,Iwata N,Ozaki N

    更新日期：2010-07-01 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • "Distribution of paternal lineages in Mestizo populations throughout Mexico: an in silico study based on Y-STR haplotypes".

    abstract：:The Mexican-Mestizo population arose following European contact with the Americas due to the admixture of principally Spaniards, Native Americans, and Africans around 500 years ago. Because the paternal lineage distribution of the Mexican population has been poorly investigated, this study inferred the haplogroups of ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00824-7

    authors： Aguilar-Velázquez JA,Rangel-Villalobos H

    更新日期：2021-03-01 00:00:00

  • Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis.

    abstract：:22q11.2 duplication syndrome has recently been established as a new syndrome manifesting broad clinical phenotypes including mental retardation. It is reciprocal to DiGeorge (DGS)/velo-cardio-facial syndrome (VCFS), in which the same portion of the chromosome is hemizygously deleted. Deletions and duplications of the ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.100

    authors： Shimojima K,Okamoto N,Inazu T,Yamamoto T

    更新日期：2011-11-01 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

  • Association of natural tooth loss with genetic variation at the human matrix Gla protein locus in elderly women.

    abstract：:Natural tooth loss represents a major medical issue within the elderly population, since it impairs masticatory function critical for oral intake of essential nutrition. Contribution of genetic factors has been implicated in the determination of natural tooth loss; degree of reduction in number of natural teeth remain...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0024-4

    authors： Hirano H,Ezura Y,Ishiyama N,Yamaguchi M,Nasu I,Yoshida H,Suzuki T,Hosoi T,Emi M

    更新日期：2003-01-01 00:00:00

  • A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach.

    abstract：:Migraine is a common debilitating primary headache disorder with significant mental, physical and social health implications. The brain neurotransmitter 5-hydroxytryptamine (5-HT; serotonin) is involved in nociceptive pathways and has been implicated in the pathophysiology of migraine. With few genetic studies investi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-005-0301-5

    authors： Johnson MP,Griffiths LR

    更新日期：2005-01-01 00:00:00

  • Genetic polymorphism of nonsyndromic cleft lip with or without cleft palate is associated with developmental dyslexia in Chinese school-aged populations.

    abstract：:Developmental dyslexia (DD) is a neurodevelopment disorder characterized by reading disabilities without apparent etiologies. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a structural craniofacial malformation featured by isolated orofacial abnormalities. Despite substantial phenotypic differences, ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.121

    authors： Wang B,Zhou Y,Leng S,Zheng L,Lv H,Wang F,Tan LH,Sun Y

    更新日期：2017-02-01 00:00:00

  • Localization of human midisatellite and macrosatellite DNA sequences on chromosomes 1 and X in the great apes.

    abstract：:The mechanism of speciation has remained largely unresolved, and hominoid evolutionary history based on chromosome rearrangements has been continuously challenged. The recent availability of the human-derived chromosome 1-specific midisatellite (D1Z2) and chromosome X-specific macrosatellite (DXZ4) DNA sequence probes...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050108

    authors： Samonte RV,Conte RA,Verma RS

    更新日期：1999-01-01 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

  • Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.

    abstract：:Interstitial deletion of 7q11.23-q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci for D7S653 and D7S...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050064

    authors： Mizugishi K,Yamanaka K,Kuwajima K,Kondo I

    更新日期：1998-01-01 00:00:00

  • Association of a G994 --> T (Val279 --> Phe) polymorphism of the plasma platelet-activating factor acetylhydrolase gene with myocardial damage in Japanese patients with nonfamilial hypertrophic cardiomyopathy.

    abstract：:Plasma platelet-activating factor acetylhydrolase (PAF-AH) acts as a key defense against oxidative stress by hydrolyzing PAF and oxidized phospholipids. Deficiency of the activity of this enzyme may thus potentially result in predisposition to myocardial damage. The possible role of the G994 (V allele) --> T (F allele...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170042

    authors： Yamada Y,Ichihara S,Izawa H,Tanaka M,Yokota M

    更新日期：2001-01-01 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

  • Erratum to: Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation.

    abstract：:In Table 2, a column heading was inadvertently omitted. Corrected table is as follows. ...

    journal_title：Journal of human genetics

    pub_type： 已发布勘误

    doi：10.1007/s10038-008-0256-4

    authors： Paradisi I,Hernández A,Arias S

    更新日期：2008-04-01 00:00:00

  • Different roles of MTHFR C677T and A1298C polymorphisms in colorectal adenoma and colorectal cancer: a meta-analysis.

    abstract：:Association studies on the MTHFR polymorphisms (C677T and A1298C) in colorectal cancer (CRC) and colorectal adenoma have shown conflicting results. We performed a meta-analysis to better assess the purported associations. Overall, the 677T allele (10,131 patients and 15,362 controls) showed a small but significant pro...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,meta分析

    doi：10.1007/s10038-006-0082-5

    authors： Huang Y,Han S,Li Y,Mao Y,Xie Y

    更新日期：2007-01-01 00:00:00

  • Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease.

    abstract：:Fabry disease is a genetic disorder caused by a deficiency of α-galactosidase A (GLA). In our previous studies, we structurally investigated Fabry disease using a structural analysis system, and revealed that structural changes in GLA are very important for understanding the molecular basis of this disease. To the bes...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.31

    authors： Saito S,Ohno K,Sakuraba H

    更新日期：2011-06-01 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

  • 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

  • Entropy-based joint analysis for two-stage genome-wide association studies.

    abstract：:Genome-wide association studies (GWAS) are being conducted to identify common genetic variants that predispose to human diseases to unravel the genetic etiology of complex human diseases now. Because of genotyping cost constraints, it often follows a two-stage design, in which a large number of markers are identified ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0177-7

    authors： Kang G,Zuo Y

    更新日期：2007-01-01 00:00:00