Analysis of family history data for evidence of non-Mendelian inheritance resulting from vertical transmission.

Fine, Paul E. M.

doi:10.1136/jmg.14.6.399

Cited by 18 publications

(6 citation statements)

References 16 publications

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“…First, family members sharing a common environment may be more likely than unrelated persons to have common exposure to an infectious agent or to transmit the agent to each other through personal contact. It has been shown that with this mechanism a pattern of maternal transmission, such as that we have observed, is expected (16) . Second, there may be an inherited susceptibility to infection by a relevant organism.…”

Section: Discussionmentioning

confidence: 58%

Familial Aggregation of Paget's Disease of Bone

Siris

Ottman

Flaster

et al. 2005

Journal of Bone and Mineral Research

143

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This epidemiologic study of Paget's disease of bone used data from 788 cases and 387 spouse controls to investigate the following: (1) the extent to which this disorder aggregates in families; (2) the cumulative incidence of the disease in first‐degree relatives of patients throughout life; and (3) the influence of age at diagnosis (<55 versus 55+ years) and presence of bone deformity in the case on risk of Paget's disease in relatives. A positive family history in parents or siblings was reported by 12.3% of cases and 2.1% of controls. The rate of Paget's disease was approximately seven times as high in relatives of cases as in relatives of controls, and this increased rate did not differ according to gender of case or control or gender of relatives. Cumulative incidence of Paget's disease to age 90 was much higher in relatives of cases (8.9 ± 1.0% SEM) than in relatives of controls (1.8 ± 0.9% SEM). Among relatives of cases, cumulative risk was highest when the case had both early age at diagnosis and bone deformity (20.7 ± 3.6% SEM) compared with risk when the case had early age at diagnosis but not bone deformity (10.8 ± 3.2% SEM), bone deformity but not early age at diagnosis (5.8 ± 1.3% SEM), or neither bone deformity nor early age at diagnosis (3.6 ± 0.8% SEM). Risk in siblings of cases was higher when a parent was affected (22.1 ± 8.0% SEM) than when both parents were unaffected (6.7 ± 1.1% SEM). These findings suggest that first‐degree relatives of patients with Paget's disease have increased risk of developing the disorder, especially if the affected relatives have early age at diagnosis or deforming bone disease.

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Section: Discussionmentioning

confidence: 58%

Familial Aggregation of Paget's Disease of Bone

Siris

Ottman

Flaster

et al. 2005

Journal of Bone and Mineral Research

143

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“…Several genetic models have been considered in an effort to develop methods for testing this possibility of non-Mendelian maternal transmission [Fine, 1977;Boehnke et a]., 19831.…”

Section: Introductionmentioning

confidence: 99%

Two‐locus mitochondrial and nuclear gene models for mitochondrial disorders

Yang

Shohat

et al. 1992

Genetic Epidemiology

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Stimulated by a large pedigree with a cochlear form of deafness, for which we considered a two-locus mitochondrial and nuclear gene model, we have extended the classic methods of segregation analysis to these classes of two-locus disorders. Based on the unique maternal transmission pattern of the mitochondria, we demonstrate that utilization of the maternal line pedigree allows us to simplify the various two-locus mitochondrial models to "one nuclear locus" models. Classifying the nuclear families into different independent groups by the mother's phenotypes allows us to estimate the nuclear gene frequency in one group and to use this estimate as the expected value to test the fitness of the model on the other group. In addition, if we restrict the analysis to specific subsets of the mating type(s), we can also test the model on specific groups of nuclear families without estimating the gene frequency. Goodness-of-fit tests can be performed on pooled sibship data as well as individual sibship data. These methods of analysis should assume increasing importance as more disorders with features of mitochondrial inheritance are identified.

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“…Other approaches extend traditional genetic and aggregation models to specifically model transmission. 48,49 As mentioned earlier, some of the known or suspected risk factors in periodontal disease etiology are age, race, gender, socioeconomic status, genetics, periodontal microbes, comorbidities (systemic disease, diabetes, etc. ), dental hygiene, diet and nutrition, tobacco use (cigarette, cigar, pipe), alcohol, osteopenia, osteoporosis, psychosocial factors (stress, distress, coping behaviors), and polymorphonuclear leukocyte disorders.…”

Section: Statistical Analysis Of Family Datamentioning

confidence: 99%

“…Athough not described in detail here, the original model of Fine 48 permits inclusion of a net horizontal incidence rate covering the period from birth to reproductive age to allow for the possibility of supplemental horizontal transfer. Such horizontal transmission may be necessary to maintain infection within a host population; it is possible to define the extent of such horizontal transmission required to maintain equilibrium prevalence.…”

Section: Transmission Models-vertical Environmental Transmissionmentioning

confidence: 99%

Assessment of Familial Patterns of Microbial Infection in Periodontitis

Irfan

Dawson

Bissada

1999

Journal of Periodontology

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The purpose of this article is to review approaches to the assessment of familial patterns of microbial infection and disease in periodontitis, and to identify statistical methods appropriate to such considerations of family data. Previous studies have provided evidence for the presence of familial aggregation of periodontal pathogens and periodontitis and have alluded to possible transmissibility of these organisms within families. Modern statistical techniques permit the appropriate analysis of the correlated data inherent in families, properly allowing for these statistical dependencies while including the possibility of adjustment for risk factors which may also aggregate in families. Such approaches as multiple linear regression, multivariate logistic regression, and regressive modeling provide the necessary tools to assess the familial aggregation of risk factors and disease in periodontitis. In particular, regressive models permit the analysis of familiality (membership to family) as a risk factor without reference to a specific underlying biologic mechanism, and also permit the possibility of adjustment for covariates, such as age and access to dental care. They also allow consideration of specific mechanisms, e.g., susceptibility genes of major effect. Using such techniques, it is possible to more completely explore and describe familial patterns of periodontal infection and other aspects of periodontal disease.

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Analysis of family history data for evidence of non-Mendelian inheritance resulting from vertical transmission.

Cited by 18 publications

References 16 publications

Familial Aggregation of Paget's Disease of Bone

Familial Aggregation of Paget's Disease of Bone

Two‐locus mitochondrial and nuclear gene models for mitochondrial disorders

Assessment of Familial Patterns of Microbial Infection in Periodontitis

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