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Int J Mol Epidemiol Genet 2012;3(2):179-183

Original Article
Distribution of polymorphisms IL4 -590 C/T and IL4 RP2 in the human
populations of Madeira, Azores, Portugal, Cape Verde and Guinea-Bissau

Anabela G Berenguer, Rita A Câmara, António D Brehm, Susana Oliveira, Ana T Fernandes

Human Genetics Laboratory, University of Madeira, 9000-390 Funchal, Portugal; Imunoallergology Unit, Central Hospital of
Funchal, 9000-514 Funchal, Portugal

Received June 24, 2011; accepted April 23, 2012; Epub May 10, 2012; Published May 30, 2012

Abstract: The IL4 gene is located on chromosome 5q23.3-31.2. Polymorphisms within this cytokine gene, like the derivative
allele T of IL4-590, have been reported as being associated to elevated IgE serum levels and asthma. In the present work, the
allelic and genotypic frequency of the IL4-590 and IL4 RP2 polymorphisms was carried out in 599 individuals from Madeira,
Azores, Portugal, Cape Verde and Guinea-Bissau and in a sample of 101 asthmatics from Madeira population. In all
populations the polymorphisms were in LD and presented a significant dissimilar allelic and genotypic distribution (p<0.05)
except between mainland Portugal and Madeira when compared to Azores. Significant differences regarding both loci were
found between Madeira population and the group of asthmatics. Genotype 183183TT frequency is higher for African
populations while 253253CC prevails in Caucasian populations. The existence of a Hardy-Weinberg Disequilibrium in
Guinea-Bissau population not observed in neutral markers leads to the hypothesis of natural selection occurring in these loci
probably associated to a rapid population growth hypothesis strengthened by neutral STRs D5S818 and CSF1PO gene
diversity. (IJMEG1106004).

Key words: IL4-590, IL4 RP2, D5S818, CSF1PO, Asthma, Madeira, Azores, Portugal, Cape Verde, Guinea-Bissau

Address all correspondence to:
Dr. Ana T Fernandes or Dr. António Brehm
Human Genetics Laboratory, University of Madeira
9000-390 Funchal, Portugal.
Tel: 351 291 705380; Fax: 351 291705399
E-mail: lgh@uma.pt