Polymorphisms in RYBP and AOAH genes are associated with chronic rhinosinusitis in a Chinese population: a replication study.
BACKGROUND
The development of CRS is believed to be the result of combined interactions between the genetic background of the affected subject and environmental factors.


OBJECTIVE
To replicate and extend our recent findings from genetic association studies in chronic rhinosinusitis (CRS) performed in a Canadian Caucasian population in a Chinese population.


METHODS
In a case-control replication study, DNA samples were obtained from CRS with (n  = 306; CRSwNP) and without (n = 332; CRSsNP) nasal polyps, and controls (n = 315) in a Chinese population. A total of forty-nine single nucleotide polymorphisms (SNPs) selected from previous identified SNPs associated with CRS in Canadian population, and SNPs from the CHB HapMap dataset were individually genotyped.


RESULTS
We identified two SNPs respectively in RYBP (rs4532099, p = 2.15E-06, OR = 2.59) and AOAH (rs4504543, p = 0.0001152, OR = 0.58) significantly associated with whole CRS cohort. Subgroup analysis for the presence of nasal polyps (CRSwNP and CRSsNP) displayed significant association in CRSwNP cohorts regarding to one SNP in RYBP (P = 3.24(E)-006, OR = 2.76). Evidence of association in the CRSsNP groups in terms of 2 SNPs (AOAH_rs4504543 and RYBP_rs4532099) was detected as well. Stratifying analysis by gender demonstrated that none of the selected SNPs were associated with CRSwNP as well as CRSsNP. Meanwhile 3 SNPs (IL1A_rs17561, P = 0.005778; IL1A_rs1800587, P = 0.009561; IRAK4_rs4251513, P = 0.03837) were associated with serum total IgE level.


CONCLUSIONS
These genes are biologically plausible, with roles in regulation of transcription (RYBP) and inflammatory response (AOAH). The present data suggests the potential common genetic basis in the development of CRS in Chinese and Caucasian population.
Department of Otolaryngology Head and Neck Surgery, Beijing TongRen Hospital, Capital Medical University, Beijing, People's Republic of China.
Yuan
Y
Zhang
Leandra Mfuna
LM
Endam
Abdelali
A
Filali-Mouhim
Liping
L
Zhao
Martin
M
Desrosiers
Demin
D
Han
Luo
L
Zhang
D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002265:Carboxylic Ester Hydrolases / Q000235:genetics*; D002681:China; D002908:Chronic Disease; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood / Q000276:immunology; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009298:Nasal Polyps / Q000235:genetics / Q000276:immunology; D020641:Polymorphism, Single Nucleotide; D012097:Repressor Proteins; D012220:Rhinitis / Q000235:genetics* / Q000276:immunology; D012852:Sinusitis / Q000235:genetics* / Q000276:immunology; D055815:Young Adult
D047908:Intracellular Signaling Peptides and Proteins; C434957:RYBP protein, human; D012097:Repressor Proteins; D007073:Immunoglobulin E; D002265:Carboxylic Ester Hydrolases; C048964:acyloxyacyl hydrolase