Polymorphisms of PHF11 and DPP10 are associated with asthma and related traits in a Chinese population.
BACKGROUND
Initial studies by positional cloning have identified the genes encoding the plant homeodomain zinc finger protein 11 (PHF11) and dipeptidyl-peptidase 10 (DPP10) as asthma susceptibility genes. The variants in the two genes have been associated with asthma in several populations of European or Latin American origin.


OBJECTIVE
The aim of this study was to assess the common PHF11 and DPP10 polymorphisms for associations to asthma and asthma-related traits in a Han Chinese population.


METHODS
We genotyped six polymorphic markers in PHF11 and five polymorphic markers in DPP10 in a Han Chinese case-control cohort consisting of 408 asthma patients and 288 unrelated disease-free controls recruited from the Northern region of China. We analyzed the association between these markers and asthma as well as a number of intermediate, asthma-related traits. Linkage disequilibrium and haplotype patterns were also evaluated.


RESULTS
Significant associations were identified between two makers in PHF11 (rs1046295 and rs16659) and asthma susceptibility (odds ratio, OR = 1.32, 95% con fidence interval, CI = 1.06-1.65, p = 0.0096, for rs1046295, and OR = 1.41, 95% CI = 1.12-1.75, p = 0.0026, for rs16659). A strong association was observed between an SNP in DPP10 (rs10208402) and log(e)-transformed total IgE (p = 0.0003) and the percentage of peripheral blood eosinophils (p = 0.0023). A weak association between rs1430090 in DPP10 and forced expiratory volume in 1 s was also observed (p = 0.048). Haplotype analysis revealed two protective haplotypes in PHF11 against asthma.


CONCLUSIONS
The results provide supporting evidence for genetic variants in PHF11 and DPP10 genes underlying asthma susceptibility and asthma-related quantitative traits in a Han Chinese population.
Gao
Jinming
J
Department of Respiratory Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China. gaojm@pumch.cn
Li
Weijuan
W
Willis-Owen
Saffron A
SA
Jiang
Lei
L
Ma
Yi
Y
Tian
Xinlun
X
Moffatt
Miriam
M
Cookson
William
W
Lin
Yaoguang
Y
Zhang
Youming
Y
D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People; D001249:Asthma / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
D004268:DNA-Binding Proteins; C493258:PHF11 protein, human; D014157:Transcription Factors; C476879:DPP10 protein, human; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases