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Familial Aggregation of Chronic Obstructive Pulmonary Disease
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
Bernice H. Cohen, Gary A. Chase
In complex conditions recognized or suspected to involve both genetic and environmental components such as COPD, the field study which incorporates other types of data including laboratory, pulmonary function testing, record search, etc. provides a most feasible and effective approach. Its usefulness in genetic-epidemiologic research derives not only from its versatility and adaptability but also from the fact that it can avoid some of the problems arising from less systematically collected data and from techniques that are oriented primarily around genetic or extrinsic factors.
Making an impact on health: Medical genetics and the UK National Health Service
Published in Peter S. Harper, The Evolution of Medical Genetics, 2019
A further problem is that any teaching or training in genetics for those entering public health medicine has been minimal or absent, despite their longstanding shared basis in statistics and epidemiology; I remember being asked by one professor of epidemiology and public health running a two-year MSc course on the subject, whether a single one-hour lecture would be sufficient to cover genetics! From this ignorance of genetics has grown a widespread view (though there are a few exceptions) that ‘proper epidemiology’ is concerned solely with the environmental factors in disease, not the genetic aspects too, ‘genetic epidemiology’ (or epidemiological genetics) being considered as something entirely separate. I have likened this to astronomers thinking that because the ‘dark’ side of the moon has not been visible until recently, it could safely be ignored, or even considered not to exist. Such an attitude might have been defensible until it actually became visible, as increasingly have the genetic aspects of disease. By contrast, geneticists have from the earliest years always considered the genetic and environmental aspects of disease, particularly for common disorders, to be complementary and balanced, rather than opposed or mutually exclusive.
Other Inherited Disorders of the Thyroid System
Published in Geraldo Medeiros-Neto, John Bruton Stanbury, Inherited Disorders of the Thyroid System, 2019
Geraldo Medeiros-Neto, John Bruton Stanbury
Genetic epidemiology is the term applied to the study of genetic risk of a disease at the population level. This involves demonstrating familial clustering and inheritance of susceptibility to a given disease. The complex inheritance of diseases of the thyroid gland has attracted the attention of genetic epidemiologists. In this group of disorders, relatives of affected persons are at a substantially increased risk, but the diseases themselves do not occur in patterns consistent with inheritance of alleles at a single locus. In the past few years data have rapidly accumulated on variation in populations in liability to autoimmune thyroid disease and also in the genetic basis of autoimmunity. Several investigators have made important contributions to this particular area of knowledge. In the thyroid field we will need to await a clear identification of the genes and their mutations in codons to further understand the nature of this complex group of disorders.
Coffee Intake Interacted with the Bcl-2 rs1944420, rs7236090, and rs2849382 Haplotype to Influence Breast Cancer Risk in Middle-Aged Women
Published in Nutrition and Cancer, 2022
Meiling Liu, Sang Shin Song, Sunmin Park
During the development of breast cancer, Bcl-2 acts by promoting tumor growth and inhibiting apoptosis (22) and may also participate in gene–gene interactions that modulate breast cancer risk. However, no study has yet shown that genetic variants of Bcl-2 interact with environmental factors in the Korean population. We hypothesized that genetic variants of Bcl-2 increase breast cancer risk and influence relations between breast cancer risk and lifestyles. This study was conducted on women that participated in the Korean Genomic Epidemiology Study (KoGES). To the best of our knowledge, this is the first study to address the effect of interactions between the Bcl-2 rs1944420, rs7236090, rs2849382 haplotype, and lifestyles on breast cancer risk in an Asian population.
Cohort profile and heritability assessment of familial pancreatic cancer: a nation-wide study
Published in Scandinavian Journal of Gastroenterology, 2021
Ming Tan, Klaus Brusgaard, Anne-Marie Gerdes, Michael Bau Mortensen, Sönke Detlefsen, Ove B. Schaffalitzky de Muckadell, Maiken Thyregod Joergensen
This study estimated the heritability of FPC based on PDAC phenotype correlation among FDRs to assess the overall genetic contribution to FPC without using genomic information. This is similar to the traditional twin studies that estimate heritability based on phenotype correlation in twin pairs with no molecular data needed. In genetic epidemiology, a moderate to high heritability estimate calls for the practice to explore the genetic architecture of the disease using genetic association studies. The estimated heritability of 51% for FPC highlights the importance of investigating genetic variations underlying the etiology of the disease. While the phenotype-based heritability estimate provides an overall assessment of genetic contribution to FPC, genetic association studies including GWAS based on genomic information can help to identify the DNA sequence variations associated with FPC. A GWAS conducted on patients with family history of pancreatic cancer or diagnosed under age 50 reported multiple SNPs influencing risk of PDAC and other cancers [32]. However, it is now widely known that the common genetic variants detected by GWAS only explain a limited proportion of the estimated overall genetic contribution (heritability) to a specific complex disorder – a phenomenon referred to as the ‘missing heritability’ problem, and thus rare variants association analysis has been proposed as an alternative to GWAS to dissolve the issue [33].
Predicting therapeutic response through biomarker analysis in psoriatic arthritis, an example of precision medicine
Published in Expert Review of Precision Medicine and Drug Development, 2020
The pathogenesis of PsA encompasses environmental, genetic, and immunological factors [9]. Genetic epidemiologic studies such as familial aggregation and twin studies suggest a substantial genetic contribution to PsA [14–16]. Molecular genetic studies implicate that the primary risk locus for both PsA and psoriasis lies within the major histocompatibility complex (MHC) region on chromosome 6p [17]. Fine mapping of this region revealed that the heterogeneity between PsA and psoriasis without PsA might be driven by HLA-B amino acid position 45, indicating that different genetic factors underlie the overall risk of psoriasis and the risk of specific psoriasis sub-phenotypes, such as PsA [17]. Genome-wide association (GWA) studies have revealed over 70 GWA significant loci for psoriasis vulgaris including HLA-C*06, IL12B, IL23R, IL23A, TNIP1, TNFAIP3, LCE3B-LCE3C, TRAF3IP2, NFkBIA, FBXL19, TYK2, IFIH1, REL, and ERAP1 [18]. A subset of these genes have been significantly associated with PsA including HLA-B/C, IL-12B, IL-23R, TNIP1, TRAF3IP2, FBXL19, REL [19]. Polymorphisms in these genes appear to demonstrate a greater predilection for PsA, although most are also associated with psoriasis [19–21]. HLA-B27 is the most significant genetic association in PsA as compared to cutaneous psoriasis but this is largely due to the presence of glutamine in HLA-B amino acid position 45 [17]. A more recent study noted the association of KIF3A and IL4 to be specific for PsA [22].