A common SNP of MCPH1 is associated with cranial volume variation in Chinese population

Microcephaly (MCPH) genes are informative in understanding the genetics and evolution of human brain volume. MCPH1 and abnormal spindle-like MCPH associated (ASPM) are the two known MCPH causing genes that were suggested undergone recent positive selectio

Relationship between COPD and polymorphisms of HOX-1 and mEPH in a Chinese population

Recent studies have proposed that susceptibility to chronic obstructive pulmonary disease (COPD) might be related with the polymorphisms of some genes encoding antioxidant enzymes, such as heme oxygenase-1 (HOX-1) and microsomal epoxide hydrolase (mEPH).

Absence of association between SNPs in the promoter region of the insulin-like growth factor 1 (IGF-1) gene and longevity in the Han Chinese population

Previous studies have indicated that genetic variations in the factors of insulin/insulin-like growth factor 1 (IGF-1) signaling pathway could influence human life-span by affecting IGF-1 levels. The promoter region of the IGF-1 gene is an obvious candida

Lack of genetic association between the angiotensin-converting enzyme gene insertion/deletion polymorphism and longevity in a Han Chinese population

Introduction. The insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene has been reported to associate with human longevity. However, little information is available in a Han Chinese longevity Population. Therefore, we investigat

The Acquisition of an Inheritable 50-bp Deletion in the Human mtDNA Control Region Does Not Affect the mtDNA Copy Number in Peripheral Blood Cells

The mitochondrial DNA (mtDNA) control region is believed to play an important biological role in mtDNA replication. Large deletions in this region are rarely found, but when they do occur they might be expected to interfere with the replication of the molecule, thus leading to a reduction of mtDNA copy number. During a survey for mtDNA sequence variations in 5,559 individuals from the general Chinese population and 2,538 individuals with medical disorders, we identified a 50-bp deletion (m.298_347del50) in the mtDNA control region in a member of a healthy Han Chinese family belonging to haplogroup B4c1b2, as suggested by complete mtDNA genome sequencing. This deletion removes the conserved sequence block II (CSBII; region 299-315) and the replication primer location (region 317-321). However, quantification of the mtDNA copy number in this subject showed a value within a range that was observed in 20 healthy subjects without the deletion. The deletion was detected in the hair samples of the maternal relatives of the subject and exhibited variable heteroplasmy. Our current observation, together with a recent report for a benign 154-bp deletion in the mtDNA control region, suggests that the control of mtDNA replication may be more complex than we had thought. Hum Mutat 31:538-543, 2010. (C) 2010 Wiley-Liss, Inc.

中国都江堰汉族人群IIS信号通路基因的遗传变异与长寿的相关性研究

随着人口老龄化的发展，对衰老和长寿的研究越来越受到关注。科学家们希望找到衰老相关疾病的致病机理以及治疗手段，从而降低这些疾病的发病风险，减少社会和经济负担。长寿老人受衰老相关疾病的困扰相对较少，自然成为研究的热点人群。而由于长寿的遗传力相对较高，关于长寿的遗传学研究也成为这个领域的热点之一。作为在从无脊椎动物到脊椎动物中一条非常保守的信号通路，胰岛素/胰岛素样生长因子1（IIS）信号通路是一条与生长发育代谢密切相关的信号通路。同时，在模式生物的研究中发现，减弱这条信号通路会导致模式生物寿命的延长。而在人类群体的相关性研究中，这条通路上一些基因的遗传变异位点与长寿、血清胰岛素样生长因子1（IGF1）水平以及一些衰老相关疾病如糖尿病、癌症和心脑血管疾病相关。为了探讨IIS信号通路上一些基因的遗传变异与长寿的关系，本研究在中国四川省都江堰市招募了共493名无相互关系的长寿老人，其中男性252人，年龄均大于90岁，女性241人，年龄均大于94岁。同时，在该地区招募了442名年轻的对照个体，年龄在22岁到73岁之间。我们对IIS信号通路上的一些基因的遗传变异位点利用测序，片段分析，RFLP等方法进行了扫描。包括（1）IGF1基因启动子区域及内含子1中的一个微卫星位点；（2）IGF1R基因外显子序列中的4个变异位点，包括3个SNP和一个2碱基缺失位点；（3）FOXO3A基因内含子1中的3个SNP位点。本研究发现，在该人群中，IGF1基因启动子区域的遗传变异与长寿没有相关性，但携带该区域中的微卫星位点18/21基因型的男性个体在长寿群体中所占比例高于在对照群体中所占的比例(11.11 vs. 5.45%, p=0.011)。虽然经过多重检验校正后显著性消失了，但考虑到这个位点曾被报道与多种衰老相关疾病相关，因此，这个位点不是影响长寿的潜在功能位点，但有可能与真正的潜在功能位点相连锁，这一观点有待进一步研究的验证。本研究并没有发现IGF1R基因外显子序列中的遗传变异与长寿存在相关性。同时，研究结果支持FOXO3A基因的遗传变异与长寿相关，这样，继日籍美国人，德国人，意大利人群体后，在中国汉族人群中也证实了这一结果。同时，在FOXO3A基因上的一个未报道过的单核苷酸多态性（SNP）位点（109080595）在本研究中被发现，携带这个基因突变纯和基因型的个体仅在长寿人群中出现（8/492 vs. 0/414, 基因型分布差异p值为0.011）。关于FOXO3A基因的功能以及新发现位点在其他群体中的基因型分布情况值得进一步深入研究。综上所述，本研究第一次在中国汉族人群中对IIS信号通路的一些基因的遗传变异与长寿的相关性进行了探讨，更多群体及更大样本量的研究有助于加深对长寿遗传机制的认识。

中国都江堰汉族人群线粒体DNA 控制区遗传变异与长寿的相关性研究

随着社会的进步和医疗卫生水平的不断提高，人类获得了更高的平均寿 命，很多国家都步入了老龄化社会的行列。由于长寿具有遗传的倾向，所以 科学家们致力于人类长寿及衰老性疾病发生机理的研究，目的是为了使人类 在获得更长寿命的同时能够抵御或减缓老年性疾病的侵袭，远离衰老带来的 困扰，享受高质量的生活。 线粒体是真核生物的重要细胞器，具有长度为约为16569bp 的环状 DNA 分子。在人类群体，特别是欧洲群体的相关性研究中，线粒体DNA （mtDNA）编码区和控制区的一些多态性位点显示出与长寿及衰老性疾病的 相关。特别是mtDNA 控制区的C150T 变异除了在多个长寿人群中富集之外， 更是具有改变mtDNA 重链复制起始位点的功能。 为了探讨mtDNA 控制区多态性位点与中国汉族长寿人群是否存在相关 性，本研究在中国四川省都江堰地区采集了556 名年龄90 至108 岁的互无 关系的长寿老人血液样本，其中男性202 名，女性354 名。同时还采集了 214 名长寿老人的亲属和312 名无关对照的血液样本，年龄分别在10 至69 岁之间和22 到73 岁之间。我们对这些样本的mtDNA 通过测序和RFLP 等 手段进行了扫描，采集并记录了mtDNA 单倍型类群信息和控制区位点多态 信息。 在该人群中，本研究发现mtDNA 的主要单倍型类群与长寿没有显著的 相关性，总体单倍型类群频率分布在三个组别中基本一致（p=0.318）。对 mtDNA 控制区C150T 变异的频率在三个组别中做了包括总体频率差异，区 分mtDNA 单倍型类群的频率差异，区分样本性别的频率差异以及mtDNA 单倍型类群与性别信息联合的频率差异的分析。虽然在个别的比较中得到了 显著差异，但经过多重检验校正后，结果均变得不显著。此外，对146、152189 和195 等四个同样处于mtDNA 控制区复制起始区域的变异位点的初步 分析，同样没有获得显著的差异。不支持此前在欧洲长寿人群和日本长寿人 群得到的结论。 综上所述，本研究第一次在中国汉族人群中对mtDNA 控制区多态性与 长寿的相关性进行了研究。mtDNA 与人类长寿的关系还有待于更深层次的 机理性研究和功能性研究来揭示。

Morphology and infraciliature of three species of Metaurostylopsis (Ciliophora, Stichotrichia): M. songi n. sp., M. salina n. sp., and M. marina (Kahl 1932) from sediments, saline ponds, and coastal waters.

Two new urostylid ciliates, Metaurostylopsis songi n. sp. and Metaurostylopsis salina n. sp. and Metaurostylopsis marina (Kahl 1932) are investigated using live observation and protargol impregnation. These species were isolated in Korea from intertidal sediments, saline ponds, and coastal waters. Metaurostylopsis songi is in vivo about 120 pm x 25 mu m, has a slenderly ellipsoidal body, colorless cortical granules in rows on ventral and dorsal body sides, about 54 macronuclear nodules, 28-47 adoral membranelles, five frontal, two or three frontoterminal and six or seven transverse cirri, and 9-12 midventral cirral pairs followed posteriorly by 1-3 single cirri. In vivo M. salina is about 60 pin x 25 mu m, has a pyriform body, colorless cortical granules irregularly arranged, about 45 macronuclear nodules, 18-23 adoral membranelles, three frontal, three to five frontoterminal and two to five transverse cirri, and four or five midventral cirral pairs followed posteriorly by five to seven single cirri. Both species have three marginal cirral rows on each body side and 3 long dorsal kineties. The Korean specimens of M. marina match the Chinese population in all main features. Metaurostylopsis songi differs from M. marina by the more slender body, the number of frontal cirri (invariably five vs. four), and the arrangement of cortical granules (in rows on dorsal and ventral cortex vs. only along dorsal kinetics and anterior body margin). Metaurostylopsis salina differs from its congeners by the distinctly smaller size, the pyriform body shape, the scattered cortical granules (vs. in rows), and number of frontal cirri. It differs from M. marina also by the number of midventral cirral pairs (four or five vs. seven to 11).