“乳癌基因”与多囊卵巢综合征有关

当女官能的卵巢囊肿切断但才会排卵和月经周期时，就才会遭遇多囊卵巢综合征（Polycystic ovary syndrome， PCOS）。这个问题外层上很非常简单，但事实上，这种传染病是很复杂的，涉及到多表现型组分和周围各种因素。受PCOS冲击的女官能占总到女官能人口的5%，而且那些被临床为PCOS的女官能发展为2标准型哮喘（T2DM）的危险官能是其他人的2到7倍。正是由于这个或许，研究者管理人员相信一个哮喘具基底等位基因某种程度在PCOS的遭遇当里面起发挥作用。一项由146名PCOS患儿组成的简介研究者说明了“哮喘等位基因”calpain-10（CAPN10）基本上是必须阐释该症的一个最让人有兴趣的候选等位基因。一项新研究者一项题名为“白种人群里面矿物质蛋白酶-10的官能状基底和单倍基底与多囊卵巢症具基底”的新研究者举例来说了这些研究者结果。该研究者由设在奥地利Neuherberg的GSF-国际组织周围环境和肥胖研究者里面心的Caren Vollmert, Claudia Lamina, Cornelia Huth, Melanie Kolz, Andreas Schopfer-Wendels, Friedhelm Bongardt, Florian Kronenberg, Hannelore Lowel 和 Thomas Illig；设在Essen的Duisburg-Essen所大学的Susanne Hahn,Klaus Mann and Onno E. Janssen；Munich的Ludwig Maximilians所大学的H.-Erich Wichmann；Munich 技术所大学的Jakob C. Mueller；Dusseldorf的Heinrich Heine所大学的Christian Herder以及GSF-国际组织周围环境和肥胖研究者里面心的Rolf Holle共同完成。他们的研究者刊发在新泽西州肾上腺代谢免疫学刊物的网络版（）。该刊物是新泽西州免疫学才会（APS）（）每月上架的14种生物科学单单版物之一。方法研究者举例来说752名女官能。其里面，146人临床为PCOS，其余606人用来作为解读的奥地利人来自先前来进行的与本研究者比如说的一项研究者，且为比如说的非糖尿官能。PCOS组复合外周血并抽取等位表现型物质DNA，解读组从全血炎症里面抽取等位表现型物质DNA。鉴定单单8 个CAPN10官能状基底的等位基因标准型：UCSNP-44，-43，-56，ins/del-19（CAPN10 等位基因UCSNP-19肽链的片段，举例来说DNA序列里面的插入或缺失官能状），-110， -58， -63，和 -22。研究者管理人员抽取了这8个特殊的单多肽官能片断（SNPs）iV；还有遭遇在生命体DNA序列的一种微小的表现型官能状，因为它们和PCOS，2标准型哮喘或具基底病症有关。然后用比较DNA信息分析的方法做等位基因种系统来判定个基底对某种传染病的表现型缺陷。为估算每个SNPs与PCOS的表现型的关系，研究者管理人员测量了病例组和解读组等位基因标准型分布的差异。还计算了组里面年龄和基底重基准（BMI）的有所不同产生的冲击。研究者管理人员用他们自己获的信息以及所有的已经刊发的能说明了CAPN10和PCOS的表现型的关系的信息做了meta-信息分析，来更快的阐明CAPN10和PCOS的表现型的关系。结果研究者管理人员的见到举例来说一般而言要点：* 有明显的事实说明了哮喘的等位基因周围CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感官能有的关系。* CAPN10 UCSNP-22和PCOS之间有预期的关系。* CAPN10 UCSNP-44， -43， -110， -58，or -63和PCOS易感官能无法显著的关系。结论本研究者进一步为一个等位基因的两个周围CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感官能具基底的假说提供了强有力的赞成。这些信息也说明了SNP ins/del-19意味著与PCOS和2标准型哮喘都有的关系。这些结果对于达占总女官能人口5%，被临床患这种瘙痒甚至截肢的传染病的患儿而言是个基督。同时，所写们劝告来进行进一步的病例-解读研究者和meta-信息分析来更快的阐释这些结果。 'Diabetes Gene' And Polycystic Ovary Syndrome May Be LinkedMain Category: Diabetes NewsArticle Date: 11 Dec 2006 - 20:00pm (PST)Polycystic ovary syndrome (PCOS) occurs when ovarian cysts block a woman's normal ovulation and menstrual cycle. While the problem sounds straightforward, the disease is complex, born from both multiple genetic components and environmental factors. PCOS affects up to five percent of the female population, and those diagnosed with the disease he a 2- to 7-fold risk of developing type 2 diabetes mellitus (T2DM). For this reason researchers believe a gene related to diabetes may also play a role in the onset of PCOS. A new study of 146 PCOS patients has found that the "diabetes gene" (calpain-10 (CAPN10)) is in fact an interesting candidate for explaining the syndrome. A New Study The findings are contained in a new study entitled "Calpain-10 Variants and Haplotypes are Associated with Polycystic Ovary Syndrome in Caucasians." The study was conducted by Caren Vollmert, Claudia Lamina, Cornelia Huth, Melanie Kolz, Andreas Schopfer-Wendels, Friedhelm Bongardt, Florian Kronenberg, Hannelore Lowel and Thomas Illig, all of the GSF-National Research Center for Environment and Health, Neuherberg; Susanne Hahn, Klaus Mann and Onno E. Janssen, University of Duisburg-Essen, Essen; H.-Erich Wichmann, Ludwig Maximilians University, Munich; Jakob C. Mueller, Technical University, Munich; Christian Herder, Heinrich Heine University, Dusseldorf; and Rolf Holle, GSF-National Research Center of Environment and Health, Neuherberg, Germany. Their study appears in the online edition of the American Journal of Physiology-Endocrinology and Metabolism (). The journal is one of the 14 scientific publications published by the American Physiological Society (APS) () each month. Methodology The study comprised 752 females. Of the total, 146 were diagnosed with PCOS and 606 were unrelated non-diabetic female controls drawn from a previously conducted independent study of the German population. Genomic DNA was taken from the PCOS group and isolated from whole blood, and genomic DNA was extracted from the blood leukocytes of the controls. Eight CAPN10 variants were genotyped: UCSNP-44, -43, -56, ins/del-19 (a fragment of gene CAPN10 UCSNP-19, which contains an insertion or deletion variation in the DNA sequence), -110, -58, -63, and -22. The researchers extracted these eight specific single-nucleotide polymorphisms (SNPs) ¡V the small genetic variations that can occur within a person's DNA sequence because they are known to be associated with PCOS, type 2 diabetes, or related traits. Genotyping using comparative DNA ysis to determine the predisposition of individuals to certain diseases was then performed. To estimate the genetic association of each of the eight SNPs with PCOS the differences in genotype distributions between the case and control groups were measured. The impact of the differences in age and body mass index (BMI) structures for both groups was also calculated. To better clarify the purported associations between CAPN10 and PCOS the researchers performed a meta-ysis using their own data and all ailable published data showing a genetic association between CAPN10 and PCOS. Results Highlights of the researchers' findings include the following: * clear evidence associating the diabetes gene areas CAPN10 UCSNP-56 and UCSNP-ins/del-19 with PCOS susceptibility * an expected association between CAPN10 UCSNP-22 and PCOS * no significant association between CAPN10 UCSNP-44, -43, -110, -58, or -63 and PCOS susceptibility Conclusions This study provides additional strong support for the theory that two areas of one gene ；还有 CAPN10 UCSNP-56 and UCSNP-ins/del-19 ；还有 are related to PCOS susceptibility. These data also suggest that the SNP ins/del-19 may be related to both PCOS and type 2 diabetes.The findings are good news for the estimated five percent of the female population who are diagnosed with the painful and sometimes disabling disease. At the same time, the authors recommend that additional case-control studies and meta-ysis be undertaken to better understand these findings.

编辑：蓝色幻想

编辑： 张靖