PMID- 8774571 OWN - NLM STAT- MEDLINE DCOM- 19961010 LR - 20190611 IS - 0140-6736 (Print) IS - 0140-6736 (Linking) VI - 348 IP - 9027 DP - 1996 Aug 31 TI - Association between genetic variants of mast-cell chymase and eczema. PG - 581-3 AB - BACKGROUND: Atopy is a common syndrome underlying asthma, rhinitis, and eczema, and is characterised by high immunoglobulin E (IgE) responses to common antigens. IgE and mast-cell chymase (MCC-a serine protease secreted by skin mast cells) have a key role in atopic or allergic inflammation of the skin. The gene for MCC is located within a cluster of genes for cellular proteases on chromosome 14q11.2. We aimed to identify variants of MCC and another gene within this complex, and assess whether there is a genetic association between variants of MCC and atopic disorders-particularly eczema. METHODS: We randomly selected 100 controls and recruited patients-100 in each group-with atopic asthma, non-atopic asthma, atopic rhinitis, and atopic eczema. PCR amplification was used to test genomic DNA for an association between allelic polymorphisms in MCC and a flanking gene (CGL1, for the cathepsin-G-like protein) on chromosome 14q11 and asthma, rhinitis, and eczema. FINDINGS: We found a significant association between a BstXI polymorphism in MCC and eczema (odds ratio 2.17 [95% CI 1.21-3.88], p = 0.009), but no association with atopic asthma, rhinitis, or non-atopic asthma. There was no association between an Mboll polymorphism in CGL1 and any of the atopic disorders. INTERPRETATION: These findings suggest that variants of MCC may be one source of genetic risk for eczema. FAU - Mao, X Q AU - Mao XQ AD - Department of Hygeine and Preventive Medicine, Osaka University School of Medicine, Suita, Japan. FAU - Shirakawa, T AU - Shirakawa T FAU - Yoshikawa, T AU - Yoshikawa T FAU - Yoshikawa, K AU - Yoshikawa K FAU - Kawai, M AU - Kawai M FAU - Sasaki, S AU - Sasaki S FAU - Enomoto, T AU - Enomoto T FAU - Hashimoto, T AU - Hashimoto T FAU - Furuyama, J AU - Furuyama J FAU - Hopkin, J M AU - Hopkin JM FAU - Morimoto, K AU - Morimoto K LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Lancet JT - Lancet (London, England) JID - 2985213R RN - EC 3.4.21.- (Serine Endopeptidases) RN - EC 3.4.21.39 (Chymases) SB - IM EIN - Lancet 1997 Jan 4;349(9044):64 CIN - Lancet. 1996 Aug 31;348(9027):560-1. PMID: 8774564 MH - Adolescent MH - Adult MH - Asthma/genetics MH - Autoradiography MH - Base Sequence MH - Case-Control Studies MH - Chymases MH - Eczema/*genetics MH - Female MH - Genetic Linkage MH - Genetic Variation MH - Genotype MH - Humans MH - Hypersensitivity, Immediate/*genetics MH - Male MH - Middle Aged MH - Molecular Sequence Data MH - Polymerase Chain Reaction MH - Random Allocation MH - Rhinitis/genetics MH - Serine Endopeptidases/*genetics EDAT- 1996/08/31 00:00 MHDA- 1996/08/31 00:01 CRDT- 1996/08/31 00:00 PHST- 1996/08/31 00:00 [pubmed] PHST- 1996/08/31 00:01 [medline] PHST- 1996/08/31 00:00 [entrez] AID - S0140673695102442 [pii] AID - 10.1016/s0140-6736(95)10244-2 [doi] PST - ppublish SO - Lancet. 1996 Aug 31;348(9027):581-3. doi: 10.1016/s0140-6736(95)10244-2.