期刊文献+
共找到2篇文章
< 1 >
每页显示 20 50 100
Recent progress in the genetics of generalized vitiligo 被引量:22
1
作者 richard a.spritz 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2011年第7期271-278,共8页
Vitiligo is an acquired disease characterized principally by patchy depigmentation of skin and overlying hair. Generalized vitiligo (GV), the predominant form of the disorder, results from autoimmune loss of melanoc... Vitiligo is an acquired disease characterized principally by patchy depigmentation of skin and overlying hair. Generalized vitiligo (GV), the predominant form of the disorder, results from autoimmune loss of melanocytes from affected regions. GV is a "complex trait", inherited in a non-Mendelian polygenic, multifactorial manner. GV is epidemiologically associated with other autoimmune diseases, both in GV patients and in their close relatives, suggesting that shared genes underlie susceptibility to this group of diseases. Early candidate gene association studies yielded a few successes, such as PTPN22, but most such reports now appear to be false-positives. Subsequent genomewide linkage studies identified NLRP1 and XBP1, apparent true GV susceptibility genes involved in immune regulation, and recent genome-wide association studies (GWAS) of GV in Caucasian and Chinese populations have yielded a large number of additional validated GV susceptibility genes. Together, these genes highlight biological systems and pathways that reach from the immune cells to the melanocyte, and provide insights into both disease pathogenesis and potential new targets for both treatment and even prevention of GV and other autoimmune diseases in genetically susceptible individuals. 展开更多
关键词 VITILIGO Autoimmune disease GENE ASSOCIATION LINKAGE
原文传递
The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela 被引量:7
2
作者 Mehmet A.Szen Marie M.Tolarova richard a.spritz 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2009年第5期283-288,共6页
Non-syndromic cleft lip with or without cleft palate (nsCL/P) is among the most common major birth defects, with complex inheritance involving multiple genes and environmental factors. Numerous studies of MTHFR, enc... Non-syndromic cleft lip with or without cleft palate (nsCL/P) is among the most common major birth defects, with complex inheritance involving multiple genes and environmental factors. Numerous studies of MTHFR, encoding methylenetetrahydrofolate reductase, which catalyzes the rate-limiting step of folic acid biosynthesis, have shown inconsistent association of two common hypomorphic allelic variants, C677T and A1298C, in nsCL/P patients and, in some cases, their mothers. We have studied the MTHFR C677T and A1298C polymorphisms in nsCL/P patients, their mothers, and population-matched controls from northern Venezuela. We found no evidence for contribution of the MTHFR C677T and A1298C variants to the risk of nsCL/P in northern Venezuela. Overall, our findings fail to support a causal role of either the MTHFR C677T or A 1298C variants in the pathogenesis of nsCL/P in northern Venezuela. 展开更多
关键词 cleft lip cleft palate methylenetetrahydrofolate reductase folic acid MTHFR polymorphisms
原文传递
上一页 1 下一页 到第
使用帮助 返回顶部