Association of defensin β-1 gene polymorphisms with asthma

摘要: Background Defensins are antimicrobial peptides that may take part in airway inflammation and hyperresponsiveness. Objective We characterized the genetic diversity defensin β-1 (DEFB1) locus tested for an association between common variants asthma diagnosis. Methods To identify single nucleotide polymorphisms (SNPs), we resequenced this gene 23 self-defined European Americans 24 African Americans. test whether DEFB1 associated with asthma, genotyped 4 haplotype-tag SNPs 517 asthmatic 519 control samples from Nurses' Health Study (NHS) performed a case-control analysis. replicate these findings, evaluated second cohort Childhood Asthma Management Program. Results Within NHS, SNP testing suggested diagnosis 5′ genomic (g.−1816 T>C; P =.025) intronic (IVS+692 G>A; =.054). A significant haplotype (Adenine, Cytosine, Thymine, Adenine [ACTA]) ( =.024) was also identified. Associations both were observed Program, cohort: g.−1816 T>C IVS+692 G>A demonstrated transmission distortion =.05 .007, respectively). Transmission not male subjects. The rare alleles (−1816C +692A) undertransmitted to offspring suggesting protective effect, contrary findings NHS cohort. Similar effects evident at level: ACTA =.04) more prominent female subjects =.007). Conclusion Variation contributes diagnosis, apparent gender-specific effects.