Analysis of association and linkage for the interleukin-4 and interleukin-4 receptor b;alpha; regions in Swedish atopic dermatitis families.
BACKGROUND
Atopic dermatitis (AD) is caused by genetic and environmental factors that interact to determine disease susceptibility and severity. Several lines of evidence suggest that the IL-4 gene and the IL-4-receptor alpha (IL-4Ralpha) gene are involved in the development of atopic diseases.


OBJECTIVE
The objective of this study was to evaluate the possible involvement of the chromosomal regions 5q31 and 16p12, which include the genes coding for the IL-4 and the IL-4Ralpha in AD.


METHODS
We conducted linkage analysis and association studies using the microsatellite markers D16S298 and D16S403 and a single nucleotide polymorphism in the promoter region of the IL-4 gene (- 590C/T) in 406 Swedish families with at least two siblings affected with AD, in total 1514 individuals.


CONCLUSIONS
We report linkage (P < 0.005) to the - 590C/T polymorphism in the promoter of the IL-4 gene for the semiquantitative trait severity score of AD. Neither linkage nor association was found to the IL-4Ralpha chromosomal region.
Departments of Molecular Medicine, Karolinska Institute at Karolinska Hospital, Stockholm, Sweden. Cilla.Soderhall@cmm.ki.se
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C
Söderhäll
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M
Bradley
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I
Kockum
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H
Luthman
C-F
CF
Wahlgren
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Nordenskjöld
D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D002895:Chromosomes, Human, Pair 5; D003876:Dermatitis, Atopic / Q000235:genetics* / Q000276:immunology*; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D015847:Interleukin-4 / Q000235:genetics*; D019948:Receptors, Interleukin-4 / Q000235:genetics*; D012720:Severity of Illness Index; D035781:Siblings; D013548:Sweden
D019948:Receptors, Interleukin-4; D015847:Interleukin-4; D007073:Immunoglobulin E