Dense mapping of chromosome 12q13.12-q23.3 and linkage to asthma and atopy

Barnes, Kathleen C.; Freidhoff, Linda R.; Nickel, Renate; Chiu, Yen Feng; Juo, Suh Hang Hank; Hizawa, Nobuyuki; Naidu, Raana P.; Ehrlich, Eva; Duffy, David L.; Schou, C.; Levett, Paul N.; Marsh, David G.; Beaty, Terri H.

doi:10.1016/s0091-6749(99)70398-2

Cited by 82 publications

(73 citation statements)

References 36 publications

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“…We did not find evidence of linkage to an earlier reported allergic rhinitis candidate region 12q14-q24, 15 the markers D12S375, D12S1052 and D12S326 (chromosome 12 locus 11 ± 13) all gave LOD scores of 0.00. Genetic heterogeneity and the mode of sampling may explain this clear divergence between the two studies.…”

Section: Discussioncontrasting

confidence: 92%

Allergic rhinitis – a total genome-scan for susceptibility genes suggests a locus on chromosome 4q24-q27

et al. 2001

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Allergic rhinitis is a common disease of complex inheritance and is characterised by mucosal inflammation caused by allergen exposure. The genetics of closely related phenotypes such as asthma, atopy and to some extend atopic dermatitis has attracted attention in recent years. Genetic reports of allergic rhinitis on the contrary have as yet been most sparse. To identify candidate regions holding genes for allergic rhinitis we performed a total genome-scan on affected sib-pair families. From 100 Danish sib-pair families selected for allergy, families containing sib-pairs matching a phenotype definition of both clinical allergic rhinitis and confirmed specific allergy were chosen. Thirty-three affected sib-pair families qualified for the scan that was undertaken using 446 microsatellite markers. Non-parametric linkage results were obtained from MAPMAKER/SIBS computer program. The study revealed one major candidate region on chromosome 4q24-q27 (LOD=2.83) and eight minor candidate regions 2q12-q33, 3q13, 4p15-q12, 5q13-q15, 6p24-p23, 12p13, 22q13, and Xp21 (LOD=1.04 ± 1.63) likely to contain susceptibility genes for allergic rhinitis. Our findings did not support a previous report of linkage of allergic rhinitis to chromosome 12q14-q24 but they added positive evidence to the asthma and atopy candidate regions 2q33 and 6p23. Further identification of the specific genes involved in allergic rhinitis will give opportunities for improved diagnosis and treatment. European Journal of Human Genetics (2001) 9, 945 ± 952.

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Section: Discussioncontrasting

confidence: 92%

Allergic rhinitis – a total genome-scan for susceptibility genes suggests a locus on chromosome 4q24-q27

et al. 2001

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“…27,28 Briefly, asthmatic probands were recruited from six polyclinics, two private clinics, and from the Accident and Emergency Department (A&ED) of Queen Elizabeth Hospital (QEH). Patients with a positive family history of asthma or one or more asthmatic siblings were referred by physicians cooperating with on-site study investigators at the University of the West Indies.…”

Section: Subjectsmentioning

confidence: 99%

Variants in the gene encoding C3 are associated with asthma and related phenotypes among African Caribbean families

et al. 2005

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Proinflammatory and immunoregulatory products from C3 play a major role in phagocytosis, respiratory burst, and airways inflammation. C3 is critical in adaptive immunity; studies in mice deficient in C3 demonstrate that features of asthma are significantly attenuated in the absence of C3. To test the hypothesis that the C3 gene on chromosome 19p13.3-p13.2 contains variants associated with asthma and related phenotypes, we genotyped 25 single nucleotide polymorphism (SNP) markers distributed at intervals of B1.9 kb within the C3 gene in 852 African Caribbean subjects from 125 nuclear and extended pedigrees. We used the multiallelic test in the family-based association test program to examine sliding windows comprised of 2-6 SNPs. A five-SNP window between markers rs10402876 and rs366510 provided strongest evidence for linkage in the presence of linkage disequilibrium for asthma, high log[total IgE], and high log[IL-13]/[log[IFN-g] in terms of global P-values (P ¼ 0.00027, 0.00013, and 0.003, respectively). A three-SNP haplotype GGC for the first three of these markers showed best overall significance for the three phenotypes (P ¼ 0.003, 0.007, 0.018, respectively) considering haplotype-specific tests. Taken together, these results implicate the C3 gene as a priority candidate controlling risk for asthma and allergic disease in this population of African descent.

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“…However, it remains that the linkage between 5q31 and asthma and atopy phenotypes is one of the most reproduced of all the possible linkages reported along with chromosome 12q. [25][26][27] Based on the evidence of 5q31-33 linkage studies, a number of recent studies have begun to identify polymorphisms in candidate genes at this locus and examine possible association of these polymorphisms with disease traits. 1,28 One of the main difficulties in comparing results amongst these studies has been the multiplicity of methodologies used for assessing phenotype.…”

Section: Resultsmentioning

confidence: 99%

Linkage analysis of the 5q31–33 candidate region for asthma in 240 UK families

et al. 2001

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Atopy and asthma are complex genetic diseases resulting from the interactions of a number of genetic and environmental factors. We had previously reported allelic association between the IL9 marker on chromosome 5q31-33 and atopy. In order to further investigate the role of susceptibility genes on 5q31-33 in the development of atopy and asthma we have studied 240 UK families comprising 131 families selected at random, 60 multiplex families with affected sib pairs, and 49 single proband nuclear families. Polymorphic markers on 5q31-33 were genotyped and both single and multipoint linkage analysis was undertaken using the BETA program. We have used both affection status and quantitative scores for atopy and asthma for phenotypic variables, combining data into scores for asthma and atopy. The strongest suggestion of linkage using multipoint analysis was centred around D5S410 with a maximum Lod of 1.946 at location 171.3 cM and a standard error of 3.3 for the asthma quantitative score. There was no evidence of linkage with atopy, the atopy quantitative score or total serum IgE. Genes and Immunity (2001) 2, 20-24.

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Dense mapping of chromosome 12q13.12-q23.3 and linkage to asthma and atopy

Cited by 82 publications

References 36 publications

Allergic rhinitis – a total genome-scan for susceptibility genes suggests a locus on chromosome 4q24-q27

Allergic rhinitis – a total genome-scan for susceptibility genes suggests a locus on chromosome 4q24-q27

Variants in the gene encoding C3 are associated with asthma and related phenotypes among African Caribbean families

Linkage analysis of the 5q31–33 candidate region for asthma in 240 UK families

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