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Anti-diuretic hormone and genetic study in primary nocturnal enuresis

JOURNAL OF PEDIATRIC UROLOGY 2013年第6期9卷 831-837页

作者： Fatouh, Amany A. A. Motawie, Ayat A. Abd Al-Aziz, Amany M. Hamed, Hanan M. Awad, Mona A. M. Abd El-Ghany, Amany El Bassyouni, Hala T. Shehab, Marwa I. K. Eid, Maha M. Natl Res Ctr Dept Pediat Cairo Egypt Natl Res Ctr Dept Clin Pathol Cairo Egypt Natl Res Ctr Dept Clin Genet Cairo Egypt Natl Res Ctr Cytogenet Dept Cairo Egypt

Objective: To investigate whether primary nocturnal enuresis (PNE) is related to a disturbance in anti-diuretic hormone (ADH) secretion pattern at night which may be genetically inherited. Subjects and methods: This study included 121 children aged 6-18 years with PNE and 45 matched healthy children as controls. Enuretic children were subjected to genetic evaluation and cytogenetic assessment (n = 99). Assay of ADH levels (9-11 am & 9-11 pm) was performed for cases (n = 99) and controls. Results: There was a positive family history in 82.4% (autosomal dominant in 35.4% and autosomal recessive in 64.6%). ADH morning and evening values were reversed in cases vs controls with significant difference in morning level. Reversal of circadian rhythm was present in 71.7% of cases and normal rhythm in 28.3% of them. Morning and evening ADH levels revealed significant difference between patients with reversed rhythm and those with normal one, and with controls. mode of inheritance had no influence on hormonal level. Chromosomal abnormality was detected in 3 cases with reversed ADH rhythm, involving chromosome 22 in two of them. Conclusion: PNE could be attributed in part to reversed ADH circadian rhythm which may be linked to chromosome 22. (C) 2012 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

关键词： Primary nocturnal enuresis Anti-diuretic hormone mode of inheritance Cyto-genetics

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Incorporating parental information into family-based association tests

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BIOSTATISTICS 2013年第3期14卷 556-572页

作者： Yu, Zhaoxia Gillen, Daniel Li, Carey F. Demetriou, Michael Univ Calif Irvine Dept Stat Irvine CA 92697 USA Univ Calif Irvine Dept Neurol Irvine CA 92697 USA Univ Calif Irvine Inst Immunol Irvine CA 92697 USA Univ Calif Irvine Dept Microbiol & Mol Genet Irvine CA 92697 USA

Assumptions regarding the true underlying genetic model, or mode of inheritance, are necessary when quantifying genetic associations with disease phenotypes. Here we propose new methods to ascertain the underlying genetic model from parental data in family-based association studies. Specifically, for parental mating-type data, we propose a novel statistic to test whether the underlying genetic model is additive, dominant, or recessive;for parental genotype-phenotype data, we propose three strategies to determine the true mode of inheritance. We illustrate how to incorporate the information gleaned from these strategies into family-based association tests. Because family-based association tests are conducted conditional on parental genotypes, the type I error rate of these procedures is not inflated by the information learned from parental data. This result holds even if such information is weak or when the assumption of Hardy-Weinberg equilibrium is violated. Our simulations demonstrate that incorporating parental data into family-based association tests can improve power under common inheritance models. The application of our proposed methods to a candidate-gene study of type 1 diabetes successfully detects a recessive effect in MGAT5 that would otherwise be missed by conventional family-based association tests.

关键词： Case-parents Dominant mode of inheritance Nuclear families Recessive Robust

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mode of inheritance of primary metabolic traits in tomato

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PLANT CELL 2008年第3期20卷 509-523页

作者： Schauer, Nicolas Semel, Yaniv Balbo, Ilse Steinfath, Matthias Repsilber, Dirk Selbig, Joachim Pleban, Tzili Zamir, Dani Fernie, Alisdair R. Max Planck Inst Mol Plant Physiol D-14476 Potsdam Germany Hebrew Univ Jerusalem Inst Plant Sci & Genet IL-76100 Rehovot Israel Hebrew Univ Jerusalem Fac Agr Otto Warburg Ctr Biotechnol IL-76100 Rehovot Israel Univ Potsdam Inst Biochem & Biol Dept Bioinformat D-14476 Potsdam Germany Res Inst Biol Farm Anim D-18196 Dummerstorf Germany

To evaluate components of fruit metabolic composition, we have previously metabolically phenotyped tomato (Solanum lycopersicum) introgression lines containing segmental substitutions of wild species chromosome in the genetic background of a cultivated variety. Here, we studied the hereditability of the fruit metabolome by analyzing an additional year's harvest and evaluating the metabolite profiles of lines heterozygous for the introgression (ILHs), allowing the evaluation of putative quantitative trait locus (QTL) mode of inheritance. These studies revealed that most of the metabolic QTL (174 of 332) were dominantly inherited, with relatively high proportions of additively (61 of 332) or recessively (80 of 332) inherited QTL and a negligible number displaying the characteristics of overdominant inheritance. Comparison of the mode of inheritance of QTL revealed that several metabolite pairs displayed a similar mode of inheritance of QTL at the same chromosomal loci. Evaluation of the association between morphological and metabolic traits in the ILHs revealed that this correlation was far less prominent, due to a reduced variance in the harvest index within this population. These data are discussed in the context of genomics-assisted breeding for crop improvement, with particular focus on the exploitation of wide biodiversity.

关键词： .wild species allowing mode of inheritance displayed metabolically Evaluating Solanum displaying overdominant Lycopersicum metabolic traits Pleban ILHs

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Spectrum of HLA associations: the case of medically refractory pediatric acute lymphoblastic leukemia

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IMMUNOGENETICS 2012年第6期64卷 409-419页

作者： Klitz, William Gragert, Loren Trachtenberg, Elizabeth Univ Calif Berkeley Sch Publ Hlth Berkeley CA 94720 USA Natl Marrow Donor Program Minneapolis MN USA Childrens Hosp Oakland Res Inst Oakland CA 94609 USA

Although studies of HLA and disease now date back some 50 years, a principled understanding of that relationship has been slow to emerge. Here, we examine the associations of three HLA loci with medically refractory pediatric acute lymphoblastic leukemia (pALL) patients in a case-control study involving 2,438 cases and 41,750 controls. An analysis of alleles from the class I loci, HLA-A and HLA-B, and the class II locus DRB1 illuminates a spectrum of extremely significant allelic associations conferring both predisposition and protection. Genotypes constructed from predisposing, protective, and neutral allelic categories point to an additive mode of disease causation. For all three loci, genotypes homozygous for predisposing alleles are at highest disease risk while the favorable effect of homozygous protective genotypes is less striking. Analysis of A-B and B-DRB1 haplotypes reveals locus-specific differences in disease effects, while that all three loci influence pALL;the influence of HLA-B is greater than that of HLA-A, and the predisposing effect of DRB1 exceeds that of HLA-B. We propose that the continuum in disease susceptibility suggests a system in which many alleles take part in disease predisposition based on differences in binding affinity to one or a few peptides of exogenous origin. This work provides evidence that an immune response mediated by alleles from several HLA loci plays a critical role in the pathogenesis of pALL, adding to the numerous studies pointing to a role for an infectious origin in pALL.

关键词： HLA Pediatric Acute lymphoblastic leukemia Immunodominance Allelic polymorphism mode of inheritance

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Familial juvenile systemic lupus erythematosus in Arab children

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RHEUMATOLOGY INTERNATIONAL 2012年第7期32卷 1939-1943页

作者： Al-Mayouf, Sulaiman Abdwani, Reem Al-brawi, Safia Riyadh Saudi Arabia Muscat Oman

Aim of this study is to analyze the demographic, clinical, and biochemical features, and survival of familial juvenile systemic lupus erythematosus (FJSLE) in Arab children. The medical records of children with FJSLE seen at three pediatric rheumatology clinics in Saudi Arabia and Oman were retrospectively reviewed. All included children have met the following criteria: Arab ethnicity, definite diagnosis of SLE using the revised 1982 American College of Rheumatology classification criteria and family history of more than one affected sibling with SLE. The collected data included: gender, age at diagnosis, clinical and laboratory features at diagnosis. Unusual co-morbidity and mortality associated with the disease were studied. There were 50 children with FJSLE belonging to 18 families;the frequency of FJSLE in our cohort was 20.8%. The mean age at onset of SLE was 86 months (range, 18-168 months), while the mean age at diagnosis was 95 months (range, 24-192 months), and the mean duration of follow-up was 60.9 months (range, 7-132 months). The proportion of girls was predominant (78%). Autosomal recessive mode of inheritance was strongly suggested in number of our families. Mucocutaneous manifestations, arthritis, and nephritis were the most frequent features. Thirty-five patients had renal lesions, 18 of them had class IV nephritis according WHO classification. All patients were treated with different doses of steroid and immunosuppressive drugs;37 (74%) patients received cyclophosphamide, and 6 patients treated with Rituximab. There were 5 patients required dialysis due to ESRD and 8 deaths related to SLE during the period of follow-up. FJSLE is not uncommon in our society. These findings may be helpful in identifying SLE patients with a stronger genetic predisposition;hopefully, one or more additional risk loci can be identified in multiplex Arab families that are different from what has been reported in other ethnic populations.

关键词： Juvenile systemic lupus erythematosus Familial lupus Multiplex lupus families mode of inheritance C1q deficiency

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Single Marker Association Analysis for Unrelated Samples

Single Marker Association Analysis for Unrelated Samples

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作者： Gang Zheng Jinfeng Xu Ao Yuan Joseph L. Gastwirth

Methods for single marker association analysis are presented for binary and quantitative traits. For a binary trait, we focus on the analysis of retrospective case–control data using Pearson’s chi-squared test, the trend test, and a robust test. For a continuous trait, typical methods are based on a linear regression model or the analysis of variance. We illustrate how these tests can be applied using a public available R package “Rassoc” and some existing R functions. Guidelines for choosing these test statistics are provided. less

关键词： Statistical Calculation Genome-Wide Association Study ANOVA Robustness Association Quantitative trait Binary trait Additive Case–control design Dominant Genetic model Genotype relative risks MAX3 mode of inheritance Penetrance Rassoc Recessive

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The Impact of Incomplete Linkage Disequilibrium and Genetic model Choice on the Analysis and Interpretation of Genome-wide Association Studies

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ANNALS OF HUMAN GENETICS 2010年第4期74卷 375-379页

作者： Iles, Mark M. Univ Leeds St Jamess Univ Hosp Leeds Inst Mol Med Canc Res UK Clin CtrSect Epidemiol & Biostat Leeds LS9 7TF W Yorkshire England

P>When conducting a genetic association study, it has previously been observed that a multiplicative risk model tends to fit better at a disease-associated marker locus than at the ungenotyped causative locus. This suggests that, while overall risk decreases as linkage disequilibrium breaks down, non-multiplicative components are more affected. This effect is investigated here, in particular the practical consequences it has on testing for trait/marker associations and the estimation of mode of inheritance and risk once an associated locus has been found. The extreme significance levels required for genome-wide association studies define a restricted range of detectable allele frequencies and effect sizes. For such parameters there is little to be gained by using a test that models the correct mode of inheritance rather than the multiplicative;thus the Cochran-Armitage trend test, which assumes a multiplicative model, is preferable to a more general model as it uses fewer degrees of freedom. Equally when estimating risk, it is likely that a multiplicative risk model will provide a good fit to the data, regardless of the underlying mode of inheritance at the true susceptibility locus. This may lead to problems in interpreting risk estimates.

关键词： mode of inheritance genome-wide association linkage disequilibrium modelling

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Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

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CLINICAL GENETICS 2009年第4期75卷 394-400页

作者： Ben-Shachar, S. Khajavi, M. Withers, M. A. Shaw, C. A. van Bokhoven, H. Brunner, H. G. Lupski, J. R. Baylor Coll Med Dept Mol & Human Genet Houston TX 77030 USA Radboud Univ Nijmegen Dept Human Genet Med Ctr NL-6525 ED Nijmegen Netherlands Baylor Coll Med Dept Pediat Houston TX 77030 USA Texas Childrens Hosp Houston TX 77030 USA

Ben-Shachar S, Khajavi M, Withers MA, Shaw CA, van Bokhoven H, Brunner HG, Lupski JR. Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?Clin Genet 2009: 75: 394-400. (C) Blackwell Munksgaard, 2009 Mutations in ROR2, encoding a receptor tyrosine kinase, can cause autosomal recessive Robinow syndrome (RRS), a severe skeletal dysplasia with limb shortening, brachydactyly, and a dysmorphic facial appearance. Other mutations in ROR2 result in the autosomal dominant disease, brachydactyly type B (BDB1). No functional mechanisms have been delineated to effectively explain the association between mutations and different modes of inheritance causing different phenotypes. BDB1-causing mutations in ROR2 result from heterozygous premature termination codons (PTCs) in downstream exons and the conveyed phenotype segregates as an autosomal dominant trait, whereas heterozygous missense mutations and PTCs in upstream exons result in carrier status for RRS. Given that the distribution of PTC mutations revealed a correlation between the phenotype and the mode of inheritance conveyed, we investigated the potential role for the nonsense-mediated decay (NMD) pathway in the abrogation of possible aberrant effects of selected mutant alleles. Our experiments show that triggering or escaping NMD may cause different phenotypes with a distinct mode of inheritance. We generalize these findings to other disease-associated genes by examining PTC mutation distribution correlation with conveyed phenotype and inheritance patterns. Indeed, NMD may explain distinct phenotypes and different inheritance patterns conveyed by allelic truncating mutations enabling better genotype-phenotype correlations in several other disorders.

关键词： brachydactyly type B genotype phenotype correlation mode of inheritance nonsense-mediated decay premature termination codons Robinow syndrome ROR2

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Genetic analysis of diapause capability and association between larval and pupal photoperiodic responses in the flesh fly Sarcophaga similis

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PHYSIOLOGICAL ENTOMOLOGY 2009年第1期34卷 46-51页

作者： Goto, Shin G. Osaka City Univ Grad Sch Sci Dept Biol & Geosci Osaka 5588585 Japan

A variant of the flesh fly Sarcophaga similis, which does not enter pupal diapause even under diapause-inducing conditions, is established by artificial selection. Interline crosses of the wild-type and the variant revealed that the diapause capability is inherited in an incomplete dominant manner. Neither sex linkage nor a maternal factor is involved in the mode of inheritance. Genetic and genetic-environmental interactions are involved in the induction of diapause. In the wild-type, the post-feeding larval period is prolonged in response to short days. However, in the variant, the duration of the larval period under short-day conditions is identical to that under long-day conditions. Long-day responses under short-day conditions at both the larval and pupal stages in the variant indicate that the responses are established by common factors in both stages. The factors causing the long-day responses under short-day conditions at different developmental stages in the variant remain to be identified. However, it is plausible to hypothesize that common factors regulate ecdysteroid release at both the larval and pupal stages, and that malfunction of the system regulating these factors triggers such ecdysteroid release, irrespective of the photoperiod. Hence, the photoperiodic responses disappear in the variant in both stages. The adult stage of the variant has a functional circadian clock, suggesting that the nondiapause phenotype is not necessarily involved in malfunction of the circadian clock.

关键词： Circadian clock diapause capability low-diapause variant mode of inheritance photoperiodic response post-feeding larval period pupal diapause pupariation quantitative photoperiodic time measurement system Sarcophaga similis

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Time-shifted reproductive behaviours among fall armyworm (Noctuidae: Spodoptera frugiperda) host strains: evidence for differing modes of inheritance

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JOURNAL OF EVOLUTIONARY BIOLOGY 2009年第7期22卷 1447-1459页

作者： Schoefl, G. Heckel, D. G. Groot, A. T. Max Planck Inst Chem Ecol Dept Entomol D-07745 Jena Germany

The noctuid moth Spodoptera frugiperda consists of two strains associated with different larval host plants (most notably corn and rice). These strains exhibit differential temporal patterns of female calling and copulation during scotophase, with the corn strain more active earlier in the night. We investigated strain-specific constraints in reproductive timing, mating interactions between the two strains, and the mode of inheritance of timing of female calling, male calling, copulation and oviposition. We observed an allochronic shift of all reproductive behaviours by approximately 3 h and a parallel shift of nonreproductive locomotor activity, suggesting involvement of the circadian clock. The corn strain was more variable in the timing of calling and copulation than the rice strain. Rice strain females were more restricted in the timing of copulation than rice strain males, while such differences between the sexes were not apparent in the corn strain. There were significant interactions between the strains affecting onset times of copulation and male calling. The four investigated reproductive traits differed in their modes of inheritance: timing of female and male calling exhibited strong maternal effects, timing of copulation was controlled by a combination of maternal effects and corn strain dominant autosomal factors, and timing of oviposition was inherited in a corn strain dominant fashion. We conclude that the allochronic separation of reproduction between fall armyworm strains is asymmetric, less pronounced than previously thought, and under complex genetic control.

关键词： Lepidoptera mating interactions mode of inheritance prezygotic barriers reproductive isolation temporal isolation

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