Abstract:
:The CATHGEN study reported associations of chromosome 3q13-21 genes (KALRN, MYLK, CDGAP, and GATA2) with early-onset coronary artery disease (CAD). This study attempted to independently validate those associations. Eleven single nucleotide polymorphisms (SNPs) were examined (rs10934490, rs16834817, rs6810298, rs9289231, rs12637456, rs1444768, rs1444754, rs4234218, rs2335052, rs3803, rs2713604) in patients (N = 1618) from the Intermountain Heart Collaborative Study (IHCS). Given the higher smoking prevalence in CATHGEN than IHCS (41% vs. 11% in controls, 74% vs. 29% in cases), smoking stratification and genotype-smoking interactions were evaluated. Suggestive association was found for GATA2 (rs2713604, p = 0.057, OR = 1.2). Among smokers, associations were found in CDGAP (rs10934490, p = 0.019, OR = 1.6) and KALRN (rs12637456, p = 0.011, OR = 2.0) and suggestive association was found in MYLK (rs16834871, p = 0.051, OR = 1.8, adjusting for gender). No SNP association was found among non-smokers, but smoking/SNP interactions were detected for CDGAP (rs10934491, p = 0.017) and KALRN (rs12637456, p = 0.010). Similar differences in SNP effects by smoking status were observed on re-analysis of CATHGEN. CAD associations were suggestive for GATA2 and among smokers significant post hoc associations were found in KALRN, MYLK, and CDGAP. Genetic risk conferred by some of these genes may be modified by smoking. Future CAD association studies of these and other genes should evaluate effect modification by smoking.
journal_name
Ann Hum Genetjournal_title
Annals of human geneticsauthors
Horne BD,Hauser ER,Wang L,Muhlestein JB,Anderson JL,Carlquist JF,Shah SH,Kraus WEdoi
10.1111/j.1469-1809.2009.00540.xsubject
Has Abstractpub_date
2009-11-01 00:00:00pages
551-8issue
Pt 6eissn
0003-4800issn
1469-1809pii
AHG540journal_volume
73pub_type
杂志文章abstract::Klippel-Trenaunay syndrome (KTS) is a congenital vascular disorder comprised of capillary, venous and lymphatic malformations associated with overgrowth of the affected tissues. In this study, we report the identification of a de novo supernumerary ring chromosome in a patient with mild mental retardation, long taperi...
journal_title:Annals of human genetics
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journal_title:Annals of human genetics
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journal_title:Annals of human genetics
pub_type: 杂志文章
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journal_title:Annals of human genetics
pub_type: 杂志文章
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journal_title:Annals of human genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:1978-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:1999-01-01 00:00:00
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pub_type: 杂志文章
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journal_title:Annals of human genetics
pub_type: 杂志文章
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1992.tb01154.x
更新日期:1992-10-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1976.tb00175.x
更新日期:1976-11-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1986.tb01942.x
更新日期:1986-01-01 00:00:00
abstract::Determination of activity and electrophoretic mobility of GALT in patients with various chromosome 9 deletions and duplications confirms the assignment of its locus to 9p and suggests its locus is in the segment 9cen leads to p22. Two inversions of 9qh (inv(9)(p11q12)) did not alter GALT expression. ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1980.tb01568.x
更新日期:1980-05-01 00:00:00
abstract::Selection of important genetic and environmental factors is of strong interest in quantitative trait analyses. In this study, we use parallel genetic algorithm (PGA) to identify genetic and environmental factors in genetic association studies of complex human diseases. Our method can take account of both multiple mark...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2009.00548.x
更新日期:2010-01-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章,评审
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journal_title:Annals of human genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1979.tb02004.x
更新日期:1979-10-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
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journal_title:Annals of human genetics
pub_type: 杂志文章
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更新日期:2008-11-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
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更新日期:1986-10-01 00:00:00
abstract::The lysosomal storage disorder glycogenosis type II, caused by a deficiency of lysosomal alpha-glucosidase, is very heterogeneous in its clinical presentation. It has been suggested that this heterogeneity may be due to differential expression of neutral alpha-glucosidases. We have therefore analysed the activity of t...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1989.tb01783.x
更新日期:1989-05-01 00:00:00
abstract::Genetic variations in cardiac ion channels have been implicated not only as the causes of inherited arrhythmic syndromes, but also as genetic risk factors for some acquired arrhythmias. To elucidate the potential roles of genetic polymorphisms of the alpha subunit of the voltage-gated sodium channel type V (SCN5A) in ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1529-8817.2005.00167.x
更新日期:2005-07-01 00:00:00
abstract::The mitochondrial DNA variation of 295 Berber-speakers from Morocco (Asni, Bouhria and Figuig) and the Egyptian oasis of Siwa was evaluated by sequencing a portion of the control region (including HVS-I and part of HVS-II) and surveying haplogroup-specific coding region markers. Our findings show that the Berber mitoc...
journal_title:Annals of human genetics
pub_type: 杂志文章
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更新日期:2009-03-01 00:00:00
abstract::Published data on the association between the methylenetetrahydrofolate reductase (MTHFR) gene A1298C (rs1801131) polymorphism and male infertility risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. In this meta-analysis, a total of seven case-control studies...
journal_title:Annals of human genetics
pub_type: 杂志文章,meta分析
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更新日期:2012-01-01 00:00:00
abstract::A substantial proportion of patients with pulmonary arterial hypertension (PAH) have mutations in the Bone Morphogenetic Protein Receptor type-2 (BMPR2) gene. PAH due to BMPR2 mutations is inherited as an autosomal dominant trait with several unique features, including a wide variety of mutations, reduced penetrance, ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12096
更新日期:2015-03-01 00:00:00