“肾病基因”与多囊卵巢综合征有关

当异性恋的卵巢囊肿抑制正常排卵和月经周期时，就但会发生多囊卵巢病症（Polycystic ovary syndrome， PCOS）。这个疑问表面上很简单，但事实上，这种传染病是很复杂的，限于到多遗传学四支分和环境因素。受PCOS直接影响的异性恋分之一到异性恋辖区的5%，而且那些被确诊为PCOS的异性恋发展为2型心血管传染病（T2DM）的危险性是其他人的2到7倍。正是由于这个原因，深入研究职员相信一个心血管传染病都是遗传学毫无疑问在PCOS的发生当之中起效用。一项由146名PCOS病患者四支成的最最初深入研究暗示“心血管传染病遗传学”calpain-10（CAPN10）其实是能够解读该青光眼的一个令人很感兴趣的候选遗传学。一项最初深入研究一项题名为“土著人群之中钙蛋白酶-10的基因突变躯和单倍躯与多囊卵巢青光眼都是”的最初深入研究包涵了这些深入研究结果。该深入研究由设于瑞典Neuherberg的GSF-国家环境和生活品质深入研究之中心的Caren Vollmert, Claudia Lamina, Cornelia Huth, Melanie Kolz, Andreas Schopfer-Wendels, Friedhelm Bongardt, Florian Kronenberg, Hannelore Lowel 和 Thomas Illig；设于Essen的Duisburg-Essen该大学的Susanne Hahn,Klaus Mann and Onno E. Janssen；Munich的Ludwig Maximilians该大学的H.-Erich Wichmann；Munich 高效率该大学的Jakob C. Mueller；Dusseldorf的Heinrich Heine该大学的Christian Herder以及GSF-国家环境和生活品质深入研究之中心的Rolf Holle----。他们的深入研究刊载在美国内分泌降解神经科周刊的网络版（）。该周刊是美国神经科但会（APS）（）每月公开发行的14种科学借助于版物之一。作法深入研究有数752名异性恋。其之中，146人确诊为PCOS，其余606人用来作为对照的瑞典人来自先前来进行的与本深入研究都是的一项深入研究，且为都是的非糖尿性。PCOS四支受控外周血并合成遗传学四支DNA，对照四支从全血炎症之中合成遗传学四支DNA。断定借助于8 个CAPN10基因突变躯的遗传学型：UCSNP-44，-43，-56，ins/del-19（CAPN10 遗传学UCSNP-19核糖体的片段，包涵DNA数列之中的插进或缺陷基因突变），-110， -58， -63，和 -22。深入研究职员合成了这8个比如说的单残基性片断（SNPs）iV----发生在人类DNA数列的一种微小的遗传学基因突变，因为它们和PCOS，2型心血管传染病或都是症状有关。然后用相比较DNA统计分析的作法来作遗传学分型来判定个躯对某种传染病的遗传学缺陷。为预估每个SNPs与PCOS的遗传学联系，深入研究职员测量了发生率四支和对照四支遗传学型栖息于的关联。还近似值了两四支之中年龄组和躯重基准（BMI）的不同产生的直接影响。深入研究职员用他们自己获得的数据以及所有的已经刊载的能暗示CAPN10和PCOS的遗传学联系的数据来作了meta-统计分析，来更佳的探究CAPN10和PCOS的遗传学联系。结果深入研究职员的发现有数以下要点：* 有明显的证据暗示心血管传染病的遗传学地带CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感性有联系。* CAPN10 UCSNP-22和PCOS之间有预期联系。* CAPN10 UCSNP-44， -43， -110， -58，or -63和PCOS易感性不会显着联系。论据本深入研究进一步为一个遗传学的两个地带CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感性都是的理论提供了强有力的支持。这些数据也暗示SNP ins/del-19不太可能与PCOS和2型心血管传染病都有联系。这些结果对于近分之一异性恋人口5%，被确诊精神病这种瘙痒甚至致残的传染病的病患者而言是个福音。同时，作者们建议来进行进一步的发生率-对照深入研究和meta-统计分析来更佳的解读这些结果。 '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 ---- CAPN10 UCSNP-56 and UCSNP-ins/del-19 ---- 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.

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