Lack of association between three promoter polymorphisms of PTGDR gene and asthma in a Chinese Han population

Abstract

Summary The PTGDR gene has been suggested to be an asthma susceptibility gene in previous genome‐wide linkage studies as well as in functional studies in a mouse model of asthma. Recently, promoter polymorphisms of the PTGDR gene have been reported to be associated with asthma in American and European populations. In order to determine the association of PTGDR promoter polymorphisms and asthma susceptibility in a Chinese Han population, three promoter single nucleotide polymorphisms (SNP) –549T/C, –441C/T, and –197T/C were genotyped in 336 patients with asthma and 264 healthy controls. Asthma was diagnosed according to the American Thoracic Society (ATS) criteria. SNPs –549T/C and –441C/T were genotyped by Tetra‐primer Amplification Refractory Mutation System PCR method and –197T/C by polymerase chain reaction‐restriction fragment length polymorphism method. Unlike the results observed in American and European populations, none of the three SNPs nor any haplotypes in the PTGDR promoter region were found to be associated with asthma susceptibility in this Chinese Han population (all P‐value > 0.05). The frequencies for both high‐transcriptional‐efficiency haplotype (CCC) and low‐transcriptional‐efficiency haplotype (TCT) were lower than 1% in patients and controls, significantly different from those observed in American and European populations. These results suggest that the three PTGDR gene promoter polymorphisms studied are not important risk factors for asthma susceptibility in the Chinese Han population.

A new PTGDR promoter polymorphism in a population of children with asthma

“…Association of different polymorphisms in promoter region of PTGDR and asthma phenotype has been previously described (9–11) in adults. However, this association has not been confirmed in certain populations (12, 13) and some inconsistencies have been observed regarding to the specific polymorphisms associated to the different asthma phenotypes (9, 10, 14).…”

“…This analysis provides more complete information on influence of diplotype combinations of PTGDR polymorphisms in asthma. association has not been confirmed in certain populations (12,13) and some inconsistencies have been observed regarding to the specific polymorphisms associated to the different asthma phenotypes (9,10,14).…”

Polymorphisms of the PTGDR and LTC4S influence responsiveness to leukotriene receptor antagonists in Korean children with asthma

“…Increased levels of cysLTs have been detected in airways, 19 exhaled breath condensates 21 and induced sputum, 22 and bronchial hyperresponsiveness has been induced by administration of cysLTs. 35 PTGDR expression was increased by the region including À441C allele 14 and increased expression of the PTGDR augmented the ability of PGD2 to recruit eosinophils and stimulate them to synthesize LTC4. 18 According to our data, the combined effects of the LTC4S À444C and PTGDR À441C alleles may have an additive effect on increasing TEC.…”

“…However, three SNPs were not significant in the Chinese population, as noted in our results. 14 These findings may be caused by the difference in allele frequency in a particular ethnic group. In fact, we confirmed the difference of 0.2 to 0.4 in Asians and CEPH (Utah residents with ancestry from northern and western Europe) according to the HapMap data.…”

“…The existence of genetic variants in the promoter region of the PTGDR (À549, À441 and À197) have been reported for several ethnic groups. [11][12][13][14] These three polymorphisms were not always related to asthma, but they may have a role in controlling PTGDR expression. Therefore, the PTGDR may serve as a therapeutic target for asthma.…”