PTPN22 polymorphisms,but not R620W,were associated with the genetic susceptibility of systemic lupus erythematosus and rheumatoid arthritis in a Chinese Han population

ObjectivesThe present study aimed to detect a possible association between PTPN22 gene polymorphisms and rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) in a Chinese Han population.Methods7 PTPN22 SNPs were genotyped in 358 patients with RA and 713 patients with SLE, as well as 564 RA controls and 672 SLE controls by Restriction Fragment Length Polymorphism (RFLP). Association analyses were conducted on the whole data set. Significant relationships were also examined between clinical features and SNPs for both RA and SLE.ResultsRs2476601 was lack of polymorphism with a ⩽0.1% frequency in both SLE and RA patients and healthy controls in our study. The two SNPs rs1217414 and rs3811021 of PTPN22 shown strong association with both SLE (rs1217414T: p_adj = 6.07e−004, OR = 0.57; rs3811021C: p_adj = 4.68e−005, OR = 0.65) and RA (rs1217414T: p_adj = 2.01e−008, OR = 0.26; rs3811021C: p_adj = 0.028, OR = 0.70). And the rs3765598 revealed a strong risk factor for SLE (p = 9.38e−009, p_adj = 6.57e−008, OR = 1.93), but not for RA (p = 0.48, OR = 1.12). Moreover, protective haplotype ACTTC in RA (p = 7.73e−016, p_adj = 5.51−015, OR[95%CI] = 0.02[0.002–0.10]) and SLE (p = 8.29e−018, p_adj = 5.80e−017, OR[95%CI] = 0.11[0.06–0.21]) were observed. In addition, the distribution of risk haplotypes ACGTC and GCTTT in RA (ACGTC: p = 0.0006, p_adj = 0.004, OR[95%CI] = 1.85[1.29–2.63]; GCTTT: p = 2.62e−005, p_adj = 1.85e−004, OR[95%CI] = 2.40[1.57–3.65]) and SLE (ACGTC: p = 0.0006, p_adj = 0.004, OR[95%CI] = 1.85[1.29–2.63]; ACGTC: p = 7.74e−011, p_adj = 6.81e−010, OR[95%CI] = 2.21[1.12–3.34]; GCTTT: p = 2.40[1.57–3.65], p_adj = 2.26e−006, OR[95%CI] = 2.64[1.79–3.87]) were significant different from that in controls. Furthermore, significant association was observed between the PTPN22 rs3765598 and antinuclear antibodies 1 (ANA1) in SLE.ConclusionsOur data provide strong evidence that the rs1217414 and rs3811021 in PTPN22 gene might be common protective factors contributed to SLE and RA susceptibility in the Chinese Han population. While, the rs3765598 might increase the genetic susceptibility of SLE, but not RA.     

少弱精症患者精子顶体酶活性分析

目的:研究少弱精症不育男性精子顶体酶活性变化与其生育力的关系。方法:以159例少弱精症和25例正常生育男性为研究对象,应用改良Kennedy法检测精子顶体酶活性,分析不同精子密度、活力、形态与顶体酶活性的关系。结果:正常组的顶体酶活性高于不同精子密度不育各组(>50×106ml、20～50×106ml、<20×106ml)(F=7.504,P<0.001);不同精子密度不育各组之间顶体酶活性比较,>50×106ml组顶体酶活性高于<20×106ml组(P<0.05),其它各亚组两两比较顶体酶活性无统计学差异;少弱精症不育者的精子畸形率与顶体酶活性呈负相关(r=-0.171),a+b级精子活力(r=+0.142)和顶体完整率(r=+0.154)与顶体酶活性呈正相关。结论:顶体酶活性对少弱精症男性生育力评价有重要价值,顶体酶活性可以作为精子形态分析之外重要的预测精子受精能力的指标。     

云南省2013-2017年农村地区育龄人群梅毒螺旋体特异性抗体筛查结果分析

目的:了解云南省农村地区育龄人群梅毒螺旋体感染的流行情况、流行病学特征及相关因素,为孕前优生和科学干预提供依据。方法:研究对象为2013-2017年云南省农村地区接受国家免费孕前优生健康检查的18~49岁育龄夫妇。分析不同特征育龄人群梅毒螺旋体特异性抗体（TPsAb）阳性率及其差异。结果:农村育龄人群中,共筛查2 16...     

云南傣族、彝族、汉族Citrin缺陷SLC25A13基因突变的筛查

目的:调查云南傣族、彝族、汉族希特林蛋白缺陷SLC25A13基因突变的分布特点。方法:应用等位基因特异性扩增方法(AS-PCR),复合扩增10个SLC25A13基因高频突变位点,用毛细管电泳检测扩增产物和GeneMapper software 5软件,分析2189个样本的SLC25A13基因型,用Sanger测序验证。结果:3个民族均检出CT4(IVS16ins3kb)和CT8(c.851-854del4)突变,汉族群体还发现CT2(c.1638_1660dup23)突变。c.851-854del4在傣族人群的突变类型中占有较高比例(75%)。傣、彝、汉族SLC25A13基因的突变携带率分别为1.2%(1/83)、0.44%(1/227)和1.48%(1/67);傣、彝族分别与汉族突变基因携带率比较无差异(P>0.05)。理论上3个民族的NICCD发病率分别为1/27445、1/206116和1/18151,总发病率为1/30667。结论:希特林缺陷病在云南群体中广泛存在。通过SLC25A13基因突变筛查可以为临床遗传咨询和干预提供参考。     

云南省2013－2017年农村地区育龄人群HBsAg筛查结果分析

目的 了解云南省农村地区育龄人群孕前HBV感染状况,筛查出HBV易感人群及高发地区,为孕前优生和科学干预提供依据。方法 研究对象为2013－2017年云南省农村地区接受国家免费孕前优生健康检查的18~49岁育龄人群。描述和分析不同特征育龄人群HBsAg阳性率及其差异。采用SPSS 22.0软件进行统计学分析。结果 农村育龄人群中,共筛查2 180 841例研究对象,HBsAg阳性率为3.13%（68 314/2 180 841）。男性HBsAg阳性率（3.56%,37 694/1 057 376）高于女性（2.73%,30 620/1 123 465）;41~49岁年龄组HBsAg阳性率最高（3.77%,3 126/82 931）;少数民族HBsAg阳性率（3.77%,27 974/742 518）高于汉族（2.81%,40 024/1 425 870）,瑶族HBsAg阳性率最高（8.20%,851/10 378）;小学及以下文化程度人群HBsAg阳性率最高,为3.97%（17 294/435 219）;西双版纳傣族自治州（西双版纳州）HBsAg阳性率最高（6.65%,3 875/58 232）;深度贫困地区HBsAg阳性率（3.32%,19 755/595 665）高于贫困地区（3.17%,29 750/939 101）与非贫困地区（2.91%,18 809/646 075）。不同特征育龄人群HBsAg阳性率的差异均有统计学意义（均P<0.001）。结论 云南省农村地区育龄人群HBsAg阳性率与其性别、年龄、民族、文化程度、筛查地区及地区经济发展水平等因素相关。育龄人群中,男性、年龄较大、文化程度较低、少数民族（尤其是瑶族）、来自西双版纳州和贫困地区HBsAg阳性率较高。     

Changing pattern in the clinical presentation of breast cancer in the absence of a screening program over a period of thirty-three years in Iran

ObjectiveTo survey the proportion of stages at the presentation of the disease without a screening program, among a population of breast cancer patients that is as a representative sample of the country in a distinct period.Materials and methodsThe population of the current study is found among the female breast cancer patients who were referred to oncology centers in northeastern Iran over a thirty-three-year period from 1980 to 2012.ResultsFour thousand patients were divided into three time periods consisting of 521 cases from 1980 to 1990, 1178 cases from 1991 to 2001, and 2302 cases from 2002 to 2012. While there was no difference in the proportions of T1 and T3 tumors, T2 tumors showed an increase (P = 0.001) and T4 tumors a decrease (P = 0.000) during these periods. There was no change in the proportion of stage I, however the proportion of stage II had risen (P = 0.000), while that of stage III (P = 0.002), and stage IV (P = 0.000) had fallen. The study's urban and rural populations experienced a similar trend in this respect, with the exception that the rural population exhibited more striking changes during the study's recent years.ConclusionAfter a thirty-three-year follow up on breast cancer in northeastern Iran, it is obvious that this disease is now presented in its earlier stages even in the absence of a screening program. In spite of this, the proportion of T1 disease and those tumors are discovered by a screening program has not significantly changed.