Source:http://linkedlifedata.com/resource/pubmed/id/20431603
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
2010-6-25
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| pubmed:abstractText |
The human chromosomal 5q31-33 region has been implicated as a susceptibility locus for several immune-mediated diseases including asthma in several populations. Recently, the extraneuronal GABAergic system has been implicated as a new link to airway obstruction in asthma. In addition, the SLC6A7 gene, which is positioned at 5q31-32 and encodes the transporter for an excitatory neurotransmitter of L-proline, has never been studied for its association with asthma. In this study, resequencing of all exon, promoter region (2 kb), and exon-intron boundary regions in the SLC6A7 gene found a total of 33 single nucleotide polymorphisms (SNPs) in 24 Korean asthmatic patients. After the initial SNP survey, a total of 17 common SNPs with minor allele frequency (MAF) over 10% were genotyped in 498 asthmatic patients and 303 normal controls. Logistic analyses revealed significant associations between genetic variants of the SLC6A7 gene and asthma (P-value up to 6.0 x 10(-4); P(corr) value up to 0.009). In further regression analyses, minor alleles of intronic +11431T>C, +12213C>T and +12927A>G in linkage disequilibrium block 2 and +20113T>C in 3'UTR significantly increased the bronchodilator response in asthmatics (P-value of recessive model up to 0.008; which are not significant after multiple correction). Therefore, our findings suggest that SLC6A7 could be a susceptible gene for asthma.
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| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
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| pubmed:issn |
1435-232X
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| pubmed:author |
pubmed-author:BaeJoon SeolJS,
pubmed-author:CheongHyun SubHS,
pubmed-author:HwangHyeon-KyuHK,
pubmed-author:JangAn SooAS,
pubmed-author:JungSeokS,
pubmed-author:KimJeong-HyunJH,
pubmed-author:KimYong-HoonYH,
pubmed-author:ParkByung-LaeBL,
pubmed-author:ParkChoon-SikCS,
pubmed-author:ParkJong SookJS,
pubmed-author:ParkSung WooSW,
pubmed-author:ShinHyoung DooHD,
pubmed-author:UhSoo-TaekST,
pubmed-author:YoonSang-HyukSH
|
| pubmed:issnType |
Electronic
|
| pubmed:volume |
55
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
358-65
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| pubmed:meshHeading |
pubmed-meshheading:20431603-Adolescent,
pubmed-meshheading:20431603-Adult,
pubmed-meshheading:20431603-Aged,
pubmed-meshheading:20431603-Aged, 80 and over,
pubmed-meshheading:20431603-Amino Acid Transport Systems, Neutral,
pubmed-meshheading:20431603-Asthma,
pubmed-meshheading:20431603-Child,
pubmed-meshheading:20431603-Chromosomes, Human, Pair 5,
pubmed-meshheading:20431603-Exons,
pubmed-meshheading:20431603-Female,
pubmed-meshheading:20431603-Gene Frequency,
pubmed-meshheading:20431603-Genetic Predisposition to Disease,
pubmed-meshheading:20431603-Genome-Wide Association Study,
pubmed-meshheading:20431603-Haplotypes,
pubmed-meshheading:20431603-Humans,
pubmed-meshheading:20431603-Introns,
pubmed-meshheading:20431603-Linkage Disequilibrium,
pubmed-meshheading:20431603-Male,
pubmed-meshheading:20431603-Middle Aged,
pubmed-meshheading:20431603-Polymorphism, Single Nucleotide,
pubmed-meshheading:20431603-Promoter Regions, Genetic,
pubmed-meshheading:20431603-Young Adult
|
| pubmed:year |
2010
|
| pubmed:articleTitle |
A new association between polymorphisms of the SLC6A7 gene in the chromosome 5q31-32 region and asthma.
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| pubmed:affiliation |
Department of Life Science, Sogang University, Seoul, Republic of Korea.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|