Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population

Here, we investigate the association of common polymorphisms of the NOS1AP gene with sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population. We genetically screened five common NOS1AP polymorphisms (rs10918594, rs12143842, rs16847548, rs12567209, and rs10494366) p...

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Veröffentlicht in:International journal of legal medicine 2014-11, Vol.128 (6), p.933-938
Hauptverfasser: Huang, Lei, Yu, Yangeng, Chen, Yili, Tester, David J., Tang, Shuangbo, Ackerman, Michael J., Yuan, Zichuang, Cheng, Jianding
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container_end_page 938
container_issue 6
container_start_page 933
container_title International journal of legal medicine
container_volume 128
creator Huang, Lei
Yu, Yangeng
Chen, Yili
Tester, David J.
Tang, Shuangbo
Ackerman, Michael J.
Yuan, Zichuang
Cheng, Jianding
description Here, we investigate the association of common polymorphisms of the NOS1AP gene with sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population. We genetically screened five common NOS1AP polymorphisms (rs10918594, rs12143842, rs16847548, rs12567209, and rs10494366) previously reported to be associated with QT interval variation and sudden cardiac death (SCD) in 123 sporadic SUNDS cases and 166 healthy controls using polymerase chain reaction (PCR) and direct DNA sequencing. In the present study, the A allele of rs12567209 was more common in controls than in SUNDS cases, which was associated with 0.656-fold decreased risk of SUNDS (95 % confidence interval 0.431 to 0.998, P  = 0.048) compared with G allele. Under the dominant genetic model, GA + AA genotype of rs12567209 was also more common in controls than in SUNDS cases, which was associated with 0.604-fold decreased risk of SUNDS (95 % confidence interval 0.368 to 0.991, P  = 0.045) compared with GG genotype. No significant associations of rs10918594, rs12143842, rs16847548, and rs10494366 with SUNDS were observed ( P  > 0.05). In haplotype analyses, the distribution of haplotype GCTA was significantly overrepresented in controls compared to SUNDS cases ( P  = 0.040). This is the first report of the association of common NOS1AP polymorphisms with SUNDS in the southern Chinese Han population. These findings suggest that the A allele of rs12567209 and haplotype GCTA may serve as a protective modifier.
doi_str_mv 10.1007/s00414-014-0973-5
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We genetically screened five common NOS1AP polymorphisms (rs10918594, rs12143842, rs16847548, rs12567209, and rs10494366) previously reported to be associated with QT interval variation and sudden cardiac death (SCD) in 123 sporadic SUNDS cases and 166 healthy controls using polymerase chain reaction (PCR) and direct DNA sequencing. In the present study, the A allele of rs12567209 was more common in controls than in SUNDS cases, which was associated with 0.656-fold decreased risk of SUNDS (95 % confidence interval 0.431 to 0.998, P  = 0.048) compared with G allele. Under the dominant genetic model, GA + AA genotype of rs12567209 was also more common in controls than in SUNDS cases, which was associated with 0.604-fold decreased risk of SUNDS (95 % confidence interval 0.368 to 0.991, P  = 0.045) compared with GG genotype. No significant associations of rs10918594, rs12143842, rs16847548, and rs10494366 with SUNDS were observed ( P  &gt; 0.05). In haplotype analyses, the distribution of haplotype GCTA was significantly overrepresented in controls compared to SUNDS cases ( P  = 0.040). This is the first report of the association of common NOS1AP polymorphisms with SUNDS in the southern Chinese Han population. 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In haplotype analyses, the distribution of haplotype GCTA was significantly overrepresented in controls compared to SUNDS cases ( P  = 0.040). This is the first report of the association of common NOS1AP polymorphisms with SUNDS in the southern Chinese Han population. 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We genetically screened five common NOS1AP polymorphisms (rs10918594, rs12143842, rs16847548, rs12567209, and rs10494366) previously reported to be associated with QT interval variation and sudden cardiac death (SCD) in 123 sporadic SUNDS cases and 166 healthy controls using polymerase chain reaction (PCR) and direct DNA sequencing. In the present study, the A allele of rs12567209 was more common in controls than in SUNDS cases, which was associated with 0.656-fold decreased risk of SUNDS (95 % confidence interval 0.431 to 0.998, P  = 0.048) compared with G allele. Under the dominant genetic model, GA + AA genotype of rs12567209 was also more common in controls than in SUNDS cases, which was associated with 0.604-fold decreased risk of SUNDS (95 % confidence interval 0.368 to 0.991, P  = 0.045) compared with GG genotype. No significant associations of rs10918594, rs12143842, rs16847548, and rs10494366 with SUNDS were observed ( P  &gt; 0.05). In haplotype analyses, the distribution of haplotype GCTA was significantly overrepresented in controls compared to SUNDS cases ( P  = 0.040). This is the first report of the association of common NOS1AP polymorphisms with SUNDS in the southern Chinese Han population. These findings suggest that the A allele of rs12567209 and haplotype GCTA may serve as a protective modifier.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>24504561</pmid><doi>10.1007/s00414-014-0973-5</doi><tpages>6</tpages></addata></record>
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source MEDLINE; HeinOnline Law Journal Library; SpringerLink Journals - AutoHoldings
subjects Adaptor Proteins, Signal Transducing - genetics
Adolescent
Adult
Alleles
Asian Continental Ancestry Group - genetics
Autopsies
Case-Control Studies
China - ethnology
Confidence intervals
Death, Sudden - epidemiology
Ethnic Groups - genetics
Forensic Medicine
Forensic pathology
Genetic testing
Genotype
Haplotypes
Histopathology
Humans
Male
Males
Medical Law
Medicine
Medicine & Public Health
Middle Aged
Nitric oxide
Polymorphism, Single Nucleotide
Short Communication
Young Adult
title Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population
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