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Alternative titles; symbolsASRT3Cytogenetic location: 2p16 Genomic coordinates (GRCh38): 2:54,700,000-61,000,000▼ DescriptionAsthma-related traits include cl...

Alternative titles; symbols

  • ASRT3

Cytogenetic location: 2p16 Genomic coordinates (GRCh38): 2:54,700,000-61,000,000

▼ Description
Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).

For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see 600807.

▼ Mapping
By genomewide linkage analysis of 364 families with asthma, Pillai et al. (2006) identified a region on chromosome 2p that was associated with susceptibility to bronchial hyperresponsiveness. BHR was defined as a positive response on a methacholine challenge test showing a 20% or greater reduction in forced expiratory volume at or below 8 mg/ml of methacholine. The patients with BHR included 184 informative sib pairs. Fine mapping yielded a multipoint lod score of 4.58 with a peak at the marker rs2063871 and flanked by rs737030 and rs920520. The 'strict asthma' phenotype, defined as 2 or more classic clinical asthma symptoms and a positive methacholine challenge test, also showed significant linkage to this region, yielding a lod score of 3.98. Pillai et al. (2006) noted that the candidate region overlapped with a locus for BHR on 2p at marker D2S2298 reported in a genomewide scan of 97 German families by Wjst et al. (1999) and Immervoll et al. (2001).

Tags: 2p16