“糖尿病等位基因”与多囊卵巢综合征有关

当男人的卵巢囊肿抑制但都会受精和月经周期时，就都会牵涉到多囊卵巢症（Polycystic ovary syndrome， PCOS）。这个疑虑表面上很简单，但事实上，这种哮喘是很多样的，涉及到多遗传性状组分和持续性。受PCOS负面影响的男人占去到男人平方千米的5%，而且那些被诊疗为PCOS的男人持续发展为2标准型哮喘（T2DM）的危险性是其他人的2到7倍。正是由于这个主因，研究者其他部门相信一个哮喘之外性状也许在PCOS的牵涉到当中起作用。一项由146名PCOS患者组成的不断更新的研究者得出结论“哮喘性状”calpain-10（CAPN10）实际上是能够表述该性疾病的一个令人感兴趣的候选性状。一项新的研究者一项题名为“白种人群中钙酶活性-10的突变体和单倍体与多囊卵巢性疾病之外”的新的研究者包含了这些研究者结果。该研究者由毗邻德国Neuherberg的GSF-东欧国家环境和有益研究者中心的Caren Vollmert, Claudia Lamina, Cornelia Huth, Melanie Kolz, Andreas Schopfer-Wendels, Friedhelm Bongardt, Florian Kronenberg, Hannelore Lowel 和 Thomas Illig；毗邻Essen的Duisburg-Essen所学校的Susanne Hahn,Klaus Mann and Onno E. Janssen；Munich的Ludwig Maximilians所学校的H.-Erich Wichmann；Munich 技术所学校的Jakob C. Mueller；Dusseldorf的Heinrich Heine所学校的Christian Herder以及GSF-东欧国家环境和有益研究者中心的Rolf Holle共同完成。他们的研究者发表在澳大利亚荷尔蒙人体内生物化学华尔街日报的网络版（）。该华尔街日报是澳大利亚生物化学都会（APS）（）每月面世的14种科学知识单单版物之一。步骤研究者包含752名男人。其中，146人诊疗为PCOS，其余606人用来作为比对的德国人来自原先顺利完成的与本研究者相关联的一项研究者，且为相关联的非糖尿性。PCOS组分离外周血并分离出来性状组DNA，比对组从全血淋巴细胞中分离出来性状组DNA。鉴定单单8 个CAPN10突变体的性状标准型：UCSNP-44，-43，-56，ins/del-19（CAPN10 性状UCSNP-19启动子的短片，包含DNA序列中的插入或缺失突变），-110， -58， -63，和 -22。研究者其他部门分离出来了这8个特殊的单核苷酸性；还有（SNPs）iV；还有牵涉到在生命体DNA序列的一种或多或少的遗传性状突变，因为它们和PCOS，2标准型哮喘或之外症状有关。然后用较为DNA分析的步骤做性状分标准型来判定个体对某种哮喘的遗传性状缺陷。为估算每个SNPs与PCOS的遗传性状父子关系，研究者其他部门测定了患者组和比对组性状标准型分布的差异。还量化了两组中年龄和增重指数（BMI）的不同产生的负面影响。研究者其他部门用他们自己得到的数据库以及所有的已经发表的能得出结论CAPN10和PCOS的遗传性状父子关系的数据库做了meta-分析，来更佳的阐明CAPN10和PCOS的遗传性状父子关系。结果研究者其他部门的发现包含表列出应以：* 有明显的证据得出结论哮喘的性状区域内CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感性有父子关系。* CAPN10 UCSNP-22和PCOS之间有预期父子关系。* CAPN10 UCSNP-44， -43， -110， -58，or -63和PCOS易感性没有值得注意父子关系。结论本研究者进一步为一个性状的两个区域内CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感性之外的理论给予了强有力的背书。这些数据库也得出结论SNP ins/del-19可能与PCOS和2标准型哮喘都有父子关系。这些结果对于约占去男人人口5%，被诊疗患有这种瘙痒甚至砍伤的哮喘的患者而言是个福音。同时，作者们建议顺利完成进一步的患者-比对研究者和meta-分析来更佳的表述这些结果。 '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.

编者：蓝色梦幻

编者： 张靖