Chromosome 14 linkage analysis and mutation study of 2 serpin genes in allergic asthmatic families

Malerba, Giovanni; Patuzzo, Cristina; Trabetti, Elisabetta; Lauciello, Maria Camilla; Galavotti, Roberta; Pescollderungg, Lydia; Whalen, Michael B.; Zanoni, Giovanna; Martinati, L. C.; Boner, Attilio; Pignatti, Pier Franco

doi:10.1067/mai.2001.113865

Cited by 18 publications

(15 citation statements)

References 27 publications

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“…PGD2 exerts its biological function through the D prostanoid receptor (PTGDR or DP) and D prostanoid receptor 2 (DP2, also known as chemoattractant receptor‐homologous molecule expressed on Th2 cells or CRTH2) (Boie et al ., 1995; Hirai et al ., 2001). The gene encoding PTGDR is located on human chromosome 14q22.1, a region repeatedly linked to asthma (Daniels et al ., 1996; Mansur et al ., 1999; Malerba et al ., 2001; Hakonarson et al ., 2002). A study of mouse model provides evidence that the PTGDR is required for the expression of the asthma (Matsuoka et al ., 2000).…”

Section: Introductionmentioning

confidence: 99%

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

Li¹,

Liu²,

Wang³

et al. 2007

Int J Immunogenetics

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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.

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Section: Introductionmentioning

confidence: 99%

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

Li¹,

Liu²,

Wang³

et al. 2007

Int J Immunogenetics

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“…Identifying the pathways that allow asthma to be expressed is fundamental to improving preventive strategies, developing diagnostic tools, and designing therapies. [6][7][8][9][10] The prostanoid DP receptor is required for the development of sensitization in a mouse model of asthma. 4 It is a candidate asthma gene because it is required for the expression of asthma 5 and because its genetic location has been linked to asthma and atopy.…”

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Role of Prostanoid DP Receptor Variants in Susceptibility to Asthma

et al. 2004

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“…Body mass, BW28(Wu et al 2002); asthma(Malerba et al 2001) Crohn's disease, NOD2(Hugot et al 2001;Ogura et al 2001) diabetes with obesity(Parker et al 2001); LDL(Bosse et al 2003), RA29…”

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An investigation of genome-wide associations of hypertension with microsatellite markers in the family blood pressure program (FBPP)

Hunt

Kardia

et al. 2007

Hum Genet

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The Family Blood Pressure Program (FBPP) has data on 387 microsatellite markers in 13,524 subjects from four major ethnic groups. We investigated genetic association with hypertension of the linkage markers. Family-based methods were used to test association of the 387 loci with resting blood pressures (BPs) [systolic blood pressure (SBP) and diastolic blood pressure (DBP)] and the hypertension status (HT). We applied a vote-counting approach to pool results across the three correlated traits, network samples, and ethnic groups to refine the selection of susceptibility loci. The association analyses captured signals missed by previous linkage scans. We found 71 loci associated with at least one of the three traits in at least one of the four ethnic groups at the significance level of 0.01. After validation across multiple samples and related traits, we identified by vote-counting 21 candidate loci for hypertension. Two loci, D3S2459 and D10S1412 confirmed findings in Network-specific linkage scans (GENOA and SAPPHIRe). Many of the candidate loci were reported by others in linkage to BPs, body weight, heart disease, and diabetes. We also observed frequent presence of quantitative trait loci (QTLs) involved in autoimmune and neurological disorders (e.g., NOD2). The vote-counting method of pooling results recognizes the potential that a gene may be involved in varying ways among different samples, which we believe is responsible for identifying genes in the less explored inflammatory pathways to hypertension.

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Chromosome 14 linkage analysis and mutation study of 2 serpin genes in allergic asthmatic families

Cited by 18 publications

References 27 publications

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

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

Role of Prostanoid DP Receptor Variants in Susceptibility to Asthma

An investigation of genome-wide associations of hypertension with microsatellite markers in the family blood pressure program (FBPP)

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