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Affected Mother (affected + mother)
Selected AbstractsGenetic Determination of Colles' Fracture and Differential Bone Mass in Women With and Without Colles' FractureJOURNAL OF BONE AND MINERAL RESEARCH, Issue 7 2000Hong-Wen Deng Abstract Osteoporotic fractures (OFs) are a major public health problem. Direct evidence of the importance and, particularly, the magnitude of genetic determination of OF per se is essentially nonexistent. Colles' fractures (CFs) are a common type of OF. In a metropolitan white female population in the midwestern United States, we found significant genetic determination of CF. The prevalence (K) of CF is, respectively, 11.8% (±SE 0.7%) in 2471 proband women aged 65.55 years (0.21), 4.4% (0.3%) in 3803 sisters of the probands, and 14.6% (0.7%) in their mothers. The recurrence risk (K0), the probability that a woman will suffer CF if her mother has suffered CF is 0.155 (0.017). The recurrence risk (Ks), the probability that a sister of a proband woman will suffer CF given that her proband sister has suffered CF is 0.084 (0.012). The relative risk , (the ratio of the recurrence risk to K), which measures the degree of genetic determination of complex diseases such as CF, is 1.312 (0.145; ,0) for a woman with an affected mother and 1.885 (0.276; ,s) for a woman with an affected sister. A ,-value significantly greater than 1.0 indicates genetic determination of CF. The terms ,0 and ,s are related to the genetic variances of CF. These parameters translate into a significant and moderately high heritability (0.254 [0.118]) for CF. These parameters were estimated by a maximum likelihood method that we developed, which provides a general tool for characterizing genetic determination of complex diseases. In addition, we found that women without CF had significantly higher bone mass (adjusted for important covariates such as age, weight, etc.) than women with CF. [source] The Essence of Linkage-based Imprinting Detection: Comparing Power, Type 1 Error, and the Effects of Confounders in Two Different Analysis ApproachesANNALS OF HUMAN GENETICS, Issue 3 2010David A. Greenberg Summary Imprinting is critical to understanding disease expression. It can be detected using linkage information, but the effects of potential confounders (heterogeneity, sex-specific penetrance, and sex-biased ascertainment) have not been explored. We examine power and confounders in two imprinting detection approaches, and we explore imprinting-linkage interaction. One method (PP) models imprinting by maximising lod scores w.r.t. parent-specific penetrances. The second (DRF) approximates imprinting by maximising lods over differential male-female recombination fractions. We compared power, type 1 error, and confounder effects in these two methods, using computer-simulated data. We varied heterogeneity, penetrance, family and dataset size, and confounders that might mimic imprinting. Without heterogeneity, PP had more imprinting-detecting power than DRF. PP's power increased when parental affectedness status was ignored, but decreased with heterogeneity. With heterogeneity, type 1 error increased dramatically for both methods. However, DRF's power also increased under heterogeneity, more than was attributable to inflated type 1 error. Sex-specific penetrance could increase false positives for PP but not for DRF. False positives did not increase on ascertainment through an affected "mother". For PP, non-penetrant individuals increased information, arguing against using affecteds-only methods. The high type 1 error levels under some circumstances means these methods must be used cautiously. [source] COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage,ANNALS OF NEUROLOGY, Issue 1 2009Linda S. de Vries MD Objective To report the presence of intracerebral hemorrhage and porencephaly, both present at birth, in two preterm infants with a mutation in the collagen 4 A1 gene. Methods Two preterm infants with antenatal intracerebral hemorrhage and established porencephaly, as well as their affected mother and grandfather, underwent neurological and ophthalmological examination and magnetic resonance imaging of the brain. Mutation analysis of the COL4A1 gene was performed in the infants and in their mother. Results Both infants had a novel G1580R mutation in the COL4A1 gene, encoding procollagen type IV ,1. A history of mild antenatal trauma was present in the first but not in the second infant. Both preterm infants were asymptomatic at birth. The intracerebral hemorrhage and porencephaly were diagnosed with cranial ultrasound examination and were subsequently confirmed with magnetic resonance imaging. Leukoencephalopathy was present in the mother and in her father. Interpretation Mutation of the COL4A1 gene appears to be a risk factor of antenatal intracerebral hemorrhage followed by porencephaly in the preterm newborn. Ann Neurol 2009;65:12,18 [source] Parental lung cancer as predictor of cancer risks in offspring: Clues about multiple routes of harmful influence?INTERNATIONAL JOURNAL OF CANCER, Issue 3 2006Kari Hemminki Abstract The carcinogenic effects of active smoking have been demonstrated for many sites, but the effects of passive smoking and exposures during pregnancy and breastfeeding are less well documented. We examined whether 0,70-year-old offspring of parents with lung cancer are at a risk of cancer that cannot be explained by their smoking or familial risk. It was assumed that known target sites for tobacco carcinogenesis would be affected, if any. The nationwide Swedish Family-Cancer Database with cancers recorded from 1958 to 2002 was used to calculate age-specific standardized incidence ratios (SIRs). Among offspring of affected mothers, increased risks were observed for upper aerodigestive (SIR 1.45), nasal (2.93), lung (1.71) and bladder (1.52) cancers and for kidney cancer (6.41) in one age group. The risk of bladder cancer was found in younger age groups than that of lung cancer. Cancers at many of these sites, but not the kidney or the bladder, were in excess in offspring of affected fathers. Nasal cancer was even increased when either parent was diagnosed with lung cancer; the highest risk was for nasal adenoid cystic carcinoma (7.73). The data suggest that passive smoking during childhood is associated with an increase risk of nasal cancer. For bladder and kidney cancers, a contribution by tobacco carcinogens is implicated through breastfeeding and in utero exposure. © 2005 Wiley-Liss, Inc. [source] | ||||||||||