“乳癌基因”与多囊卵巢综合征有关

当男同官能恋的卵巢囊肿阻断正常人受精和月经周期时，就都会愈演愈烈多囊卵巢综合征（Polycystic ovary syndrome， PCOS）。这个问题表面上很简单，但事实上，这种疾病是很复杂的，除此以外到多表现型混合物和周边表型。深受PCOS负面影响的男同官能恋占总到男同官能恋总人均收入的5%，而且那些被临床为PCOS的男同官能恋演进为2标准型癌症（T2DM）的危险是其他人的2到7倍。正是由于这个情况，研究工作人员似乎一个癌症涉及突变也许在PCOS的愈演愈烈当中所起效用。一项由146名PCOS病征组成的最上新研究工作声称“癌症突变”calpain-10（CAPN10）仅仅是都能解释该青光眼的一个令人有兴趣的候选突变。一项上新研究工作一项题名为“白种人群中所钙酶活官能-10的人体内体和单倍体与多囊卵巢青光眼涉及”的上新研究工作构成了这些研究工作结果。该研究工作由位于德国Neuherberg的GSF-国家周边环境和健康研究工作中所心的Caren Vollmert, Claudia Lamina, Cornelia Huth, Melanie Kolz, Andreas Schopfer-Wendels, Friedhelm Bongardt, Florian Kronenberg, Hannelore Lowel 和 Thomas Illig；位于Essen的Duisburg-Essen的大学的Susanne Hahn,Klaus Mann and Onno E. Janssen；Munich的Ludwig Maximilians的大学的H.-Erich Wichmann；Munich 技术的大学的Jakob C. Mueller；Dusseldorf的Heinrich Heine的大学的Christian Herder以及GSF-国家周边环境和健康研究工作中所心的Rolf Holle均是由。他们的研究工作发表在英国荷尔蒙生物合成神经医学杂志的网络版（）。该杂志是英国神经医学都会（APS）（）每月推出的14种医学出版物之一。方法研究工作除此以外752名男同官能恋。其中所，146人临床为PCOS，其余606人用来作为相比较的义大利人来自原先进行的与本研究工作无关的一项研究工作，且为无关的非癌症男同官能恋。PCOS混合物离外周血并分离出突变组DNA，准确率从全血粒细胞中所分离出突变组DNA。鉴定出8 个CAPN10人体内体的突变标准型：UCSNP-44，-43，-56，ins/del-19（CAPN10 突变UCSNP-19位点的视频，构成DNA核酸中所的插入或其都会人体内），-110， -58， -63，和 -22。研究工作人员分离出了这8个类似的单氨基酸衍生物官能；还有（SNPs）iV；还有愈演愈烈在人类DNA核酸的一种微小的表现型人体内，因为它们和PCOS，2标准型癌症或涉及症状有关。然后用来得DNA系统官能的方法认真突变分标准型来判定个体对某种疾病的表现型缺陷。为估计值每个SNPs与PCOS的表现型彼此间，研究工作人员测定了流感组和准确率突变标准型分布区的相异。还计算了4组中所年龄和体重股票价格（BMI）的不同归因于的负面影响。研究工作人员用他们自己获得的样本以及所有的之前发表的能声称CAPN10和PCOS的表现型彼此间的样本认真了meta-系统官能，来较好的阐明CAPN10和PCOS的表现型彼此间。结果研究工作人员的推测除此以外以下通则：* 有明显的证据声称癌症的突变范围内CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感官能有彼此间。* CAPN10 UCSNP-22和PCOS之间有预期彼此间。* CAPN10 UCSNP-44， -43， -110， -58，or -63和PCOS易感官能没有特别是在彼此间。结论本研究工作进一步为一个突变的两个范围内CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感官能涉及的理论发放了强有力的支持。这些样本也声称SNP ins/del-19可能与PCOS和2标准型癌症都有彼此间。这些结果对于共约占总男同官能恋人均收入5%，被临床患有这种眼部甚至致残的疾病的病征而言是个圣诗。同时，所写们建议进行进一步的流感-相比较研究工作和meta-系统官能来较好的解释这些结果。 '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 have 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 analysis 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-analysis using their own data and all available 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-analysis be undertaken to better understand these findings.

编辑：白色梦幻

编辑： 张靖