[Relationship between disintegrin and metalloproteinase gene polymorphism of bronchial asthma and its severity in...

To explore the relationship between disintegrin and metalloproteinase (ADAM33) gene polymorphism of bronchial asthma and its severity in Xinjiang Uygur population.

From January to December 2009, a total of 126 consecutive Uighur asthmatics with a definite diagnosis at First Affiliated Hospital of Xinjiang Medical University were assigned into intermittent mild (n = 62), moderate (n = 39) and severe (n = 25) groups according to the severity of illness. The control group was a 1: 1 paired population from healthy subjects matched similarly with regards to gender, race, residence and age (with a difference <5 years). The ADAM33 gene polymorphisms of F+1, S+1, T1, T2 and V4 locus allele in each group were tested by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

In ADAM33, the distribution of T1, T2 and V4 locus allele in asthmatics and controls had a significant difference (χ² = 8.064, P = 0.018; χ² = 8.013, P = 0.018 and χ² = 11.737, P = 0.003). The distribution of allelic frequency showed that all T1 (C), T2 (A) and V4 (G) locus allele increased the relative risk degree of asthmatics (OR = 2.080, 2.139 and 1.912). The distribution frequency of T1 (TC and TT), T2 (AG and GG), V4 (GG and CC) genotypes in mild, moderate and severe groups had significant differences (all P < 0.05).Linkage disequilibrium analysis showed that in asthmatics, the presence of Hap2 (CATGC) was much lower than controls (20.4% vs 30.4%; χ² = 6.597, P = 0.010) while Hap4 (CACAC) and Hap5 (TACAG) were much higher than those in controls (9.6% vs 4.8% and 6.8% vs 2.8%; χ² = 4.545, P = 0.033 and χ² = 4.377, P = 0.036).

The ADAM33 gene polymorphism of T1, T2 and V4 locus allele may be associated with asthma and its severity in Xinjiang. And Uighur population may have both susceptible and protective haplotypes of asthmatics.