A genetic and environmental time series analysis of blood pressure in male twins

Systolic and diastolic blood pressures were measured on 254 monozygotic (MZ) and 260 dizygotic (DZ) male twin pairs, during middle age (average age 48 years) and at two later age points. Genetic and environmental components of covariation were modeled by time series. For both measures, shared environmental influences were absent and specific environmental influences were largely time-specific. Although heritability was about 0.5 at each time point, genetic variation present at middle age contributed only about 60% to that present 9 years later, the remaining 40% being new. Fifteen years later, at the third time point, no new genetic variation was evident, variation in individual differences being entirely attributable to genetic differences laid down at the two earlier ages. © 1993 Wiley-Liss, Inc.     

人群中病毒性肝炎的型别研究

作者于1987年2月16日～1988年2月15日在四川五个点211 639人群中监测急性病毒性肝炎。其发病率为167.74/10万,其中甲型肝炎占24.51％;乙型肝炎占38.31％;非甲非乙型肝炎占24.51％,EB病毒和巨细胞病毒所致肝炎各占3.38％;混合感染占5.92％。病毒性肝炎中有14.93％重叠感染。发病高峰在春季。发病率,男:女=1.75:1。甲型肝炎20岁以下年龄组、乙型肝炎20～39岁年龄组的发病率明显高于其他年龄组,非甲非乙型较分散,5～19岁相对多一些,其他型别年龄组间无明显差异。355例急性病毒性肝炎患者中43.9％有接触史,36.6％有注射史。     

Linear Unsaturated Polyamides: Nylons 6 u18 and 18 u18

Summary: Linear unsaturated nylons 6 u18 and 18 u18 have been made containing a double bond in the center of the diacid segment with potential for additional functionalization. Solution state NMR showed the presence of a small portion of cis amide units. Solid state NMR verified the presence of the double bond in the bulk, and that the polyamides were present in the α‐crystalline form. Thermal stability was comparable to linear saturated nylons, and the melting and crystallization temperatures of the unsaturated nylons were lower compared to the saturated analogs.

DSC heating and cooling thermograms for nylons 6 u18 and 18 u18.     

Quantitative trait locus for reading disability on chromosome 6p is pleiotropic for attention‐deficit/hyperactivity disorder

Comorbidity is pervasive among both adult and child psychiatric disorders; however, the etiological mechanisms underlying the majority of comorbidities are unknown. This study used genetic linkage analysis to assess the etiology of comorbidity between reading disability (RD) and attention‐deficit hyperactivity disorder (ADHD), two common childhood disorders that frequently co‐occur. Sibling pairs (N = 85) were ascertained initially because at least one individual in each pair exhibited a history of reading difficulties. Univariate linkage analyses in sibling pairs selected for ADHD from within this RD‐ascertained sample suggested that a quantitative trait locus (QTL) on chromosome 6p is a susceptibility locus for ADHD. Because this QTL is in the same region as a well‐replicated QTL for reading disability, subsequent bivariate analyses were conducted to test if this QTL contributed to comorbidity between the two disorders. Analyses of data from sib pairs selected for reading deficits revealed suggestive bivariate linkage for ADHD and three measures of reading difficulty, indicating that comorbidity between RD and ADHD may be due at least in part to pleiotropic effects of a QTL on chromosome 6p. © 2002 Wiley‐Liss, Inc.     

Multivariate Genetic Analysis of Chronic Pelvic Pain and Associated Phenotypes

Chronic pelvic pain (CPP) is a common condition in women that is difficult to diagnose. Although heritability estimates have been published for some conditions potentially underlying pelvic pain, the heritability of CPP itself has never been investigated. Using data from 623 MZ and 377 DZ female twin pairs aged 29–50 from an Australian twin cohort, we found an increased CPP concordance among MZs compared to DZs, with tetrachoric correlations of 0.43 (95% CI: 0.26–0.58) and 0.11 (95% CI: –0.16–0.38), respectively. This corresponded to a heritability of 0.41 (95% CI: 0.25–0.56). Lack of correlations with environmental indicators suggested that violation of the equal environments assumption was not responsible for this effect. Multivariate Cholesky decomposition models incorporating CPP and significantly correlated phenotypes showed that the entire CPP heritability could be explained by genetic variance underlying endometriosis (38%), dysmenorrhoea (23%), fibroids (24%), and somatic distress (15%), the latter a possible indicator of increased nociception. CPP itself is unlikely to be a useful independent phenotype to conduct genetic aetiological studies; contributing conditions such as endometriosis and variation in nociception are likely to provide more useful phenotypes.     

The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants

Genetic studies in inflammatory bowel disease have identified multiple susceptibility loci, whose relevance depends critically on verification in independent cohorts. Genetic variants associated with Crohn's disease have now been identified on chromosomes 5 (IBD5/5q31 risk haplotype) and 16 (IBD1 locus, CARD15/NOD2 mutations). Stratification of genome-wide linkage analyses by disease associated variants is now possible, offering both increased power for identification of other loci and improved understanding of genetic mechanisms. We performed a genome-wide scan of 137 Crohn's disease affected relative pairs from 112 families. Multipoint non-parametric linkage analyses were performed, with further stratification of affection status by common CARD15 mutations and the IBD5 haplotype. We verified linkage of Crohn's disease to regions on chromosome 3 (P=0.0009) and X (P=0.001) in our cohort. Linkage to chromosome 16 (IBD1) was observed in Crohn's disease pairs not possessing common CARD15 mutations (P=0.0007), approximately 25 cM q telomeric of CARD15. Evidence for linkage to chromosome 19 (IBD6) was observed in Crohn's disease pairs not possessing CARD15 mutations (P=0.0001), and in pairs possessing one or two copies of the IBD5 risk haplotype (P=0.0005), with significant evidence for genetic heterogeneity and epistasis, respectively. These analyses demonstrate the complex genetic basis to Crohn's disease, and show that the discovery of disease-causing variants may be used to aid identification of further susceptibility loci in complex disease.     

Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease

The inflammatory bowel diseases (IBDs), Crohn's disease (CD) and ulcerative colitis, are chronic inflammatory disorders of the digestive tract. The pathogenesis of IBD is complicated, and it is widely accepted that immunologic, environmental and genetic components contribute to its etiology. To identify genetic susceptibility factors in CD, we performed a genome-wide association study in Japanese patients and controls using nearly 80,000 gene-based single nucleotide polymorphism (SNP) markers and investigated the haplotype structure of the candidate locus in Japanese and European patients. We identified highly significant associations (P = 1.71 x 10(-14) with odds ratio of 2.17) of SNPs and haplotypes within the TNFSF15 (the gene encoding tumor necrosis factor superfamily, member 15) genes in Japanese CD patients. The association was confirmed in the study of two European IBD cohorts. Interestingly, a core TNFSF15 haplotype showing association with increased risk to the disease was common in the two ethnic groups. Our results suggest that the genetic variations in the TNFSF15 gene contribute to the susceptibility to IBD in the Japanese and European populations.     

A LISREL 8 model with constrained parameters for twin and adoptive families

Constrained optimization recently has been implemented in the LISREL software package, allowing formulation of parent-offspring transmission models in a simple and efficient manner. A reverse path model of parental transmission is described within the LISREL framework for application to twin and/or adoptive family data. The model incorporates genetic and environmental parameter constraints arising from assortative mating and cultural transmission. An illustration of the LISREL model is given using measures obtained from twins and parents involving fear of social criticism.