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A novel promoter polymorphism in the gene encoding complement component 5 receptor 1 on chromosome 19q13.3 is not associated with asthma and atopy in three independent populations

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A novel promoter polymorphism in the gene encoding complement component 5 receptor 1 on chromosome 19q13.3 is not associated with asthma and atopy in three independent populations. / Barnes, K C; Caraballo, L; Muñoz, M; Zambelli-Weiner, A; Ehrlich, E; Burki, M; Jimenez, S; Mathias, R A; Stockton, M L; Deindl, P; Mendoza, L; Hershey, G K; Nickel, R; Wills-Karp, M.

In: CLIN EXP ALLERGY, Vol. 34, No. 5, 01.05.2004, p. 736-44.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Barnes, KC, Caraballo, L, Muñoz, M, Zambelli-Weiner, A, Ehrlich, E, Burki, M, Jimenez, S, Mathias, RA, Stockton, ML, Deindl, P, Mendoza, L, Hershey, GK, Nickel, R & Wills-Karp, M 2004, 'A novel promoter polymorphism in the gene encoding complement component 5 receptor 1 on chromosome 19q13.3 is not associated with asthma and atopy in three independent populations', CLIN EXP ALLERGY, vol. 34, no. 5, pp. 736-44. https://doi.org/10.1111/j.1365-2222.2004.1942.x

APA

Barnes, K. C., Caraballo, L., Muñoz, M., Zambelli-Weiner, A., Ehrlich, E., Burki, M., Jimenez, S., Mathias, R. A., Stockton, M. L., Deindl, P., Mendoza, L., Hershey, G. K., Nickel, R., & Wills-Karp, M. (2004). A novel promoter polymorphism in the gene encoding complement component 5 receptor 1 on chromosome 19q13.3 is not associated with asthma and atopy in three independent populations. CLIN EXP ALLERGY, 34(5), 736-44. https://doi.org/10.1111/j.1365-2222.2004.1942.x

Vancouver

Barnes KC, Caraballo L, Muñoz M, Zambelli-Weiner A, Ehrlich E, Burki M et al. A novel promoter polymorphism in the gene encoding complement component 5 receptor 1 on chromosome 19q13.3 is not associated with asthma and atopy in three independent populations. CLIN EXP ALLERGY. 2004 May 1;34(5):736-44. https://doi.org/10.1111/j.1365-2222.2004.1942.x

Bibtex

@article{26f779d4f13b41ba970f8f87dfb0bcca,
title = "A novel promoter polymorphism in the gene encoding complement component 5 receptor 1 on chromosome 19q13.3 is not associated with asthma and atopy in three independent populations",
abstract = "BACKGROUND: The inflammatory functions of complement component 5 (C5) are mediated by its receptor, C5R1, which is expressed on bronchial, epithelial, vascular endothelial and smooth muscle cells. A susceptibility locus for murine allergen-induced airway hyper-responsiveness was identified in a region syntenic to human chromosome 19q13, where linkage to asthma has been demonstrated and where the gene encoding C5R1 is localized.OBJECTIVE: The aim of this study was to screen for novel polymorphisms in the C5R1 gene and to determine whether any identified polymorphisms are associated with asthma and/or atopy and whether they are functional.METHODS: Single-nucleotide polymorphism (SNP) detection in the gene encoding C5R1 was performed by direct sequencing. Genotyping was performed in three populations characterized for asthma and/or atopy: (1) 823 German children from The Multicenter Allergy Study; (2) 146 individuals from Tangier Island, Virginia, a Caucasian isolate; and (3) asthma case-parent trios selected from 134 families (N=783) in Barbados. Functional studies were performed to evaluate differences between the wild-type and the variant alleles.RESULTS: We identified a novel SNP in the promoter region of C5R1 at position -245 (T/C). Frequency of the -245C allele was similar in the German (31.5%) and Tangier Island (36.3%) populations, but higher in the Afro-Caribbean population (53.0%; P=0.0039 to <0.0001). We observed no significant associations between the -245 polymorphism and asthma or atopy phenotypes. Upon examination of the functional consequences of the -245T/C polymorphism, we did not observe any change in promoter activity.CONCLUSION: This new marker may provide a valuable tool to assess the risk for C5a-associated disorders, but it does not appear to be associated with asthma and/or atopy.",
keywords = "African Continental Ancestry Group, Asthma, Barbados, Base Sequence, Child, Child, Preschool, Chromosomes, Human, Pair 19, Cohort Studies, European Continental Ancestry Group, Female, Gene Expression, Gene Frequency, Germany, Humans, Hypersensitivity, Infant, Infant, Newborn, Male, Membrane Proteins, Molecular Sequence Data, Point Mutation, Promoter Regions, Genetic, Receptors, Complement, Transfection, U937 Cells, United States",
author = "Barnes, {K C} and L Caraballo and M Mu{\~n}oz and A Zambelli-Weiner and E Ehrlich and M Burki and S Jimenez and Mathias, {R A} and Stockton, {M L} and P Deindl and L Mendoza and Hershey, {G K} and R Nickel and M Wills-Karp",
year = "2004",
month = may,
day = "1",
doi = "10.1111/j.1365-2222.2004.1942.x",
language = "English",
volume = "34",
pages = "736--44",
journal = "CLIN EXP ALLERGY",
issn = "0954-7894",
publisher = "Wiley-Blackwell",
number = "5",

}

RIS

TY - JOUR

T1 - A novel promoter polymorphism in the gene encoding complement component 5 receptor 1 on chromosome 19q13.3 is not associated with asthma and atopy in three independent populations

AU - Barnes, K C

AU - Caraballo, L

AU - Muñoz, M

AU - Zambelli-Weiner, A

AU - Ehrlich, E

AU - Burki, M

AU - Jimenez, S

AU - Mathias, R A

AU - Stockton, M L

AU - Deindl, P

AU - Mendoza, L

AU - Hershey, G K

AU - Nickel, R

AU - Wills-Karp, M

PY - 2004/5/1

Y1 - 2004/5/1

N2 - BACKGROUND: The inflammatory functions of complement component 5 (C5) are mediated by its receptor, C5R1, which is expressed on bronchial, epithelial, vascular endothelial and smooth muscle cells. A susceptibility locus for murine allergen-induced airway hyper-responsiveness was identified in a region syntenic to human chromosome 19q13, where linkage to asthma has been demonstrated and where the gene encoding C5R1 is localized.OBJECTIVE: The aim of this study was to screen for novel polymorphisms in the C5R1 gene and to determine whether any identified polymorphisms are associated with asthma and/or atopy and whether they are functional.METHODS: Single-nucleotide polymorphism (SNP) detection in the gene encoding C5R1 was performed by direct sequencing. Genotyping was performed in three populations characterized for asthma and/or atopy: (1) 823 German children from The Multicenter Allergy Study; (2) 146 individuals from Tangier Island, Virginia, a Caucasian isolate; and (3) asthma case-parent trios selected from 134 families (N=783) in Barbados. Functional studies were performed to evaluate differences between the wild-type and the variant alleles.RESULTS: We identified a novel SNP in the promoter region of C5R1 at position -245 (T/C). Frequency of the -245C allele was similar in the German (31.5%) and Tangier Island (36.3%) populations, but higher in the Afro-Caribbean population (53.0%; P=0.0039 to <0.0001). We observed no significant associations between the -245 polymorphism and asthma or atopy phenotypes. Upon examination of the functional consequences of the -245T/C polymorphism, we did not observe any change in promoter activity.CONCLUSION: This new marker may provide a valuable tool to assess the risk for C5a-associated disorders, but it does not appear to be associated with asthma and/or atopy.

AB - BACKGROUND: The inflammatory functions of complement component 5 (C5) are mediated by its receptor, C5R1, which is expressed on bronchial, epithelial, vascular endothelial and smooth muscle cells. A susceptibility locus for murine allergen-induced airway hyper-responsiveness was identified in a region syntenic to human chromosome 19q13, where linkage to asthma has been demonstrated and where the gene encoding C5R1 is localized.OBJECTIVE: The aim of this study was to screen for novel polymorphisms in the C5R1 gene and to determine whether any identified polymorphisms are associated with asthma and/or atopy and whether they are functional.METHODS: Single-nucleotide polymorphism (SNP) detection in the gene encoding C5R1 was performed by direct sequencing. Genotyping was performed in three populations characterized for asthma and/or atopy: (1) 823 German children from The Multicenter Allergy Study; (2) 146 individuals from Tangier Island, Virginia, a Caucasian isolate; and (3) asthma case-parent trios selected from 134 families (N=783) in Barbados. Functional studies were performed to evaluate differences between the wild-type and the variant alleles.RESULTS: We identified a novel SNP in the promoter region of C5R1 at position -245 (T/C). Frequency of the -245C allele was similar in the German (31.5%) and Tangier Island (36.3%) populations, but higher in the Afro-Caribbean population (53.0%; P=0.0039 to <0.0001). We observed no significant associations between the -245 polymorphism and asthma or atopy phenotypes. Upon examination of the functional consequences of the -245T/C polymorphism, we did not observe any change in promoter activity.CONCLUSION: This new marker may provide a valuable tool to assess the risk for C5a-associated disorders, but it does not appear to be associated with asthma and/or atopy.

KW - African Continental Ancestry Group

KW - Asthma

KW - Barbados

KW - Base Sequence

KW - Child

KW - Child, Preschool

KW - Chromosomes, Human, Pair 19

KW - Cohort Studies

KW - European Continental Ancestry Group

KW - Female

KW - Gene Expression

KW - Gene Frequency

KW - Germany

KW - Humans

KW - Hypersensitivity

KW - Infant

KW - Infant, Newborn

KW - Male

KW - Membrane Proteins

KW - Molecular Sequence Data

KW - Point Mutation

KW - Promoter Regions, Genetic

KW - Receptors, Complement

KW - Transfection

KW - U937 Cells

KW - United States

U2 - 10.1111/j.1365-2222.2004.1942.x

DO - 10.1111/j.1365-2222.2004.1942.x

M3 - SCORING: Journal article

C2 - 15144465

VL - 34

SP - 736

EP - 744

JO - CLIN EXP ALLERGY

JF - CLIN EXP ALLERGY

SN - 0954-7894

IS - 5

ER -