Robust asymptotic sampling theory for correlations in pedigrees

Keen, Kevin J.; Elston, Robert C.

doi:10.1002/sim.1559

Cited by 38 publications

(31 citation statements)

References 33 publications

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“…Evidence for inheritance of Sasang constitution was assessed with the statistical genetics package Familial CORrelation (FCOR) and ASSOC (Keen and Elston, 2003) in Statiatical Analysis of Genetic Epidemiology (S.A.G.E) version 5.4.2 to obtain the familial correlation coefficient values and heritability estimates.…”

Section: Discussionmentioning

confidence: 99%

Investigation of Genetic Evidence for Sasang Constitution Types in South Korea

Lee¹,

Jang²,

Sohn³

et al. 2009

Genomics & Informatics

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In Sasang constitutional medicine, both disease susceptibility and drug response are considered to be related to the characteristics of an individual's physiology and psychology: a theory which is central to traditional Korean medicine. Based on such observable characteristics, Sasang constitutional medicine classifies people into four constitutional types. Genetic studies of Sasang constitution would help reveal the inheritance patterns and models of the typological traits and, moreover, help with traditional medical diagnosis and treatment. To investigate the heritable aspect of Sasang constitution, we collected various pedigrees from South Korea. The study population has 101 pedigrees composed of 593 individuals. The determination of the Sasang constitution type of each individual was performed by doctors who diagnose the Sasang constitutional type of individuals as part of their professional practice. We calculated estimates of familial correlation and heritability. Parent-Offspring pairs showed the strongest familial correlation of Sasang constitutional type, with the correlation values of 0.21 and 0.28, followed by sibling pairs with the value ranging between 0.14 and 0.25. From the heritability analysis conducted with the Variance-Component method, the heritability of TE (Tae-Eum) type, SY (So-Yang) type, and SE (So-Eum) type were 55%, 41%, and 47%, respectively. This pattern of heritability was consistent with different set of analyses, which suggest the robustness of our result. Our result clearly shows that the Sasang constitution type is heritable, and further genetic analysis based on our result will shed light on the biological mechanism of Sasang constitution.

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Section: Discussionmentioning

confidence: 99%

Investigation of Genetic Evidence for Sasang Constitution Types in South Korea

Lee¹,

Jang²,

Sohn³

et al. 2009

Genomics & Informatics

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“…19,20 Therefore, we performed commingling analyses for the covariate-adjusted traits using the program SEGREG implemented in S.A.G.E., during the process of which a Box-Cox power transformation was performed to simultaneously obtain normal and homoscedastic residuals. 21 We estimated the narrow sense of heritability of traits using the program FCOR 22 in S.A.G.E. Three sets of CRVE and CRAE were considered for the heritability estimation: (1) no covariates adjustment, (2) adjustment for significant covariates, and (3) Box-Cox power transformation after covariate adjustment.…”

Section: Discussionmentioning

confidence: 99%

Genome-Wide Linkage Study of Retinal Vessel Diameters in the Beaver Dam Eye Study

Xing

Klein

et al. 2006

Hypertension

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Abstract-Retinal vessels can be observed noninvasively and provide a window to microvascular systems elsewhere in the body. Generalized retinal arteriolar narrowing can represent structural changes resulting from persistent high blood pressure. However, data from recent studies also suggest that generalized retinal arteriolar narrowing might precede hypertension and contribute to its pathogenesis. To determine whether vessel diameters in the eye are genetically determined, we conducted a genome-wide linkage scan on retinal vessel diameters (central retinal artery equivalent and central retinal vein equivalent) using data from the Beaver Dam Eye Study. There were 7 regions on 5 chromosomes (3q28, 5q35, 7q21, 7q32, 11q14, 11q24, and 17q11) Key Words: genetics Ⅲ arterioles Ⅲ veins Ⅲ microcirculation Ⅲ retinal vessels T he retinal vessels can be observed noninvasively and are thought to characterize microvascular systems elsewhere in the body. It is believed that the retinal vessels, as an end point of the arteriolar system, are particularly susceptible to changes in blood pressure. 1 There have been several studies showing an association between past and present hypertension and narrowing of retinal arterioles. [2][3][4][5] Data from general population-based cohort studies have shown that generalized retinal arteriolar narrowing precedes hypertension and may contribute to its pathogenesis. 6,7 Moreover, independent of blood pressure, generalized retinal arteriolar narrowing was shown to be a predictor of stroke, 8 cardiovascular disease mortality, 9 and coronary heart disease. 10 Recently, Lee et al 11 investigated the familial aggregation of retinal vessel diameters and showed that it was more highly correlated between relatives than between unrelated individuals, suggesting the involvement of genetic components. To our knowledge, however, there have been no genetic linkage or association studies investigating the genetic influence on retinal vessel diameters.In the present study, we performed a genome-wide linkage scan on retinal vessel diameters using data from the Beaver Dam Eye Study. Our specific aims were: (1) to study the underlying genetic factors influencing retinal vessel diameters, and (2) to study the differences between retinal vessel diameters (venules and arterioles) in terms of the genetic background. Given the association between retinal arteriolar narrowing and hypertension, stroke, and cardiovascular disease, understanding the genetic determinants of retinal vessel diameters may provide additional insights into the pathogenesis of these complex diseases. Methods Family AscertainmentThe Beaver Dam Eye Study, as described in detail in previous reports, 12,13 is a population-based cohort study of age-related eye diseases. At the time of census 4926 subjects between 43 and 86 years of age, living in the city or township of Beaver Dam, Wis, participated in the baseline examination from 1988 to 1990. Informed consent was obtained from the participants following a protocol approved by the Institution...

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“…Unadjusted intrafamilial associations were estimated by calculating intraclass correlations (ICCs) for sibpairs. The FCOR program of the SAGE software package (Case Western Reserve University, Cleveland, OH) was used with a uniform weighting scheme, giving equal weights for each sibship regardless of the number of sibpairs within the sibships (11). The correlations between ordinal ETDRS scores and nephropathy status were also calculated with the FCOR program using the same weighting scheme.…”

Section: Methodsmentioning

confidence: 99%

Heritability of Proliferative Diabetic Retinopathy

Hietala

Forsblom²,

Summanen³

et al. 2008

Diabetes

152

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on behalf of the FinnDiane Study Group OBJECTIVE-Diabetic nephropathy clusters in families, suggesting that genetic factors play a role in its pathogenesis. We investigated whether similar clustering exists for proliferative retinopathy in families with two or more siblings with type 1 diabetes. RESEARCH DESIGN AND METHODS-TheFinnDiane Study has characterized 20% (4,800 patients) of adults with type 1 diabetes in Finland. In 188 families, there were at least two siblings with type 1 diabetes. Ophthalmic records were obtained for 369 of 396 (93%) and fundus photographs for 251 of 369 (68%) patients. Retinopathy was graded based on photographs and/or repeated ophthalmic examinations using the Early Treatment of Diabetic Retinopathy grading scale.RESULTS-Mean age at onset of diabetes was 14.3 Ϯ 10.2 years, and mean duration was 25.9 Ϯ 11.8 years. Proliferative retinopathy was found in 115 of 369 patients (31%). The familial risk of proliferative retinopathy was estimated in 168 of 188 sibships, adjusted for A1C, duration, and mean blood pressure. Proliferative retinopathy in the probands (48 of 168) was associated with an increased risk (odds ratio 2.76 [95% CI 1.25-6.11], P ϭ 0.01) of proliferative retinopathy in the siblings of probands (61 of 182). The heritability of proliferative retinopathy was h 2 ϭ 0.52 Ϯ 0.31 (P Ͻ 0.05). After 20 years of diabetes, almost all patients with type 1 diabetes and 58% of patients with type 2 diabetes show signs of retinopathy. When retinopathy worsens, severe visual loss eventually threatens 5-10% of patients (2). The most severe form of retinopathy is proliferative retinopathy, and most of the patients with this complication will become blind after 5-10 years without treatment (3). The prevalence of proliferative retinopathy varies between 13 and 50% after 15-20 years of diabetes duration in patients needing insulin (2,4). CONCLUSIONS-WeThe prevalence of any retinopathy is strongly related to duration and glucose exposure (2,4). Furthermore, poor glycemic control increases the incidence and progression of retinopathy (5,6). Nevertheless, glycemic exposure seems to explain only a part of the risk of proliferative retinopathy (7). In patients with type 2 diabetes, high blood pressure increases the incidence of retinopathy (8). It is noteworthy that proliferative retinopathy is associated with diabetic nephropathy, a complication that is at least in part genetically determined (2). Such an association suggests that familial factors may also contribute to the development of proliferative retinopathy.Therefore, the aim of this study was to elucidate whether there is a familial clustering of proliferative retinopathy in patients with longstanding type 1 diabetes and to estimate the degree of familiality by calculating the heritability of proliferative retinopathy. RESEARCH DESIGN AND METHODSThe present study was undertaken as part of the ongoing FinnDiane Study (Finnish Diabetic Nephropathy Study), a nationwide multicenter project with the aim of identifying genetic and environmenta...

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Robust asymptotic sampling theory for correlations in pedigrees

Cited by 38 publications

References 33 publications

Investigation of Genetic Evidence for Sasang Constitution Types in South Korea

Investigation of Genetic Evidence for Sasang Constitution Types in South Korea

Genome-Wide Linkage Study of Retinal Vessel Diameters in the Beaver Dam Eye Study

Heritability of Proliferative Diabetic Retinopathy

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