Segregation analysis of quantitative traits

Ginsburg, Emil; Livshits, Gregory

doi:10.1080/030144699282822

Cited by 27 publications

(25 citation statements)

References 34 publications

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“…The mixed model of inheritance (Morton & MacLean, 1974 ;Elston, 1981 ;Lalouel et al 1983 ;Beaty, 1997 ;Ginsburg & Livshits, 1999) estimated effects of the putative major gene, and possible multifactorial effects were investigated in the present study.…”

Section: Complex Segregation Analysismentioning

confidence: 99%

“…The type I models examine the data adjusted for age, sex and other potential covariates prior to segregation analysis. The type II models incorporate the effect of covariates into a penetrance function determined by a major gene model (Elston, 1981 ;Beaty, 1997 ;Ginsburg & Livshits, 1999). The general model of type I estimated the following parameters : P(A) is the population frequency of the first of two major gene alleles (A and B).…”

Section: Complex Segregation Analysismentioning

confidence: 99%

“…The trait variance attributable to the major gene and to non-major gene effects may be evaluated in the above two types of models (Ginsburg & Livshits, 1999).…”

Section: Complex Segregation Analysismentioning

confidence: 99%

“…to estimate parameter Β that measures the correlation between putative major gene genotypes in parents). Another approach is maximization for parameters of P(AA) and P(AB) -the frequencies of the corresponding putative genotypes, independently, and not P(A) as expected at Hardy-Weinberg equilibrium (for details see Elston, 1981 ;Ginsburg & Livshits, 1999). Table 1 provides basic descriptive statistics for all study variables according to sex.…”

Section: Ascertainment Correctionmentioning

confidence: 99%

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Evidence for a major gene for bone mineral density/content in human pedigrees identified via probands with extreme bone mineral density

Deng

Livshits

Yakovenko

et al. 2002

Annals of Human Genetics

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Bone mineral content (BMC) and\or bone mineral density (BMD, i.e. BMC scaled by bone size) are major determinants for osteoporosis, which is a serious health problem. The major determinant of variation in BMD\BMC is genetic. The few studies now available are inconsistent in the identification and\or even in the existence of major gene(s) for BMD\BMC. In 51 human pedigrees with 941 individuals (526 measured for phenotypes) identified via probands with extreme BMD values, we performed complex segregation analyses to test the existence of a genetic locus with a major effect on BMD\BMC variation. We analyzed BMD and BMC at the spine, hip and wrist jointly by employing, as the study phenotype, factor scores (FS) of the principle component that explains " 75 % of the total BMD\BMC variation at the three sites. The results indicate that a major gene exists with a codominant effect that is responsible for " 16 % of the FS variation when adjusted for significant effects of sex, body weight and age. A significant genotype-i-sex-i-age interaction was found, which may explain " 14 % of the FS variation after adjusting for body weight. Testing of various models did not provide support for shared familial environmental effects but suggested the existence of residual polygenic effects, which may explain " 50 % of the FS variation when adjusting for sex, body weight and age. This study indicates a promising aspect of studies to identify a major gene for BMD\BMC variation in our pedigrees identified via extreme probands. Bone mineral density (BMD) and bone mineral content (BMC) are quantitative traits that are measured on continuous scales by methods such as dual X-ray absorptiometry (DEXA). BMD is BMC scaled by bone size (silhouette size). Low BMD and BMC are major risk factors for fracture, and osteoporosis is mainly characterized by low BMD (Cummings et al. 1985 ;Melton et al. 1989). Osteoporosis results in more

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Section: Complex Segregation Analysismentioning

confidence: 99%

Section: Complex Segregation Analysismentioning

confidence: 99%

“…The trait variance attributable to the major gene and to non-major gene effects may be evaluated in the above two types of models (Ginsburg & Livshits, 1999).…”

Section: Complex Segregation Analysismentioning

confidence: 99%

Section: Ascertainment Correctionmentioning

confidence: 99%

See 2 more Smart Citations

Evidence for a major gene for bone mineral density/content in human pedigrees identified via probands with extreme bone mineral density

Deng

Livshits

Yakovenko

et al. 2002

Annals of Human Genetics

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“…We know that genetic model-bound analyses of microevolutionary processes have contributed significantly to our understanding of the mechanism underlying human phenotypic traits, i.e., trait heritability, which represents the genetic variability associated with the phenotype [17][18][19]. Recently, several advanced statistical program packages with model fitting techniques have become available, which are very useful in complex segregation analysis to determine the effect of genes [20][21][22][23][24][25][26][27][28][29]. However, we still do not know the exact source of genetic regulation for dermatoglyphic traits due to the paucity of such studies.…”

Section: Introductionmentioning

confidence: 99%

Genetic Determinants of 22 Quantitative Dermatoglyphic Traits in the Chuvashian Population of Russia: Complex Segregation Analysis

Karmakar

Malkin²,

Kobyliansky³

2009

TOANTHJ

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Abstract:Background: Dermatoglyphics is widely used as a genetically determined trait in Anthropology. However, little is known about their pattern of inheritance due to lack of advanced statistical genetic model-fitting techniques despite the existence of advanced statistical packages.Objectives: The aim of the present study is to determine the mode of inheritance of dermatoglyphic traits through complex segregation analysis. Subjects and Methods:Finger and palmar prints of 325 individuals belonging to 104 families from the Chuvashian population of Russia were used for principal component analysis, familial correlation, and segregation analysis (package MAN-5). Results:The results suggest a common internal structure of three factors when compared with other populations. (b) Significant familial correlations (except spouse) indicate the involvement of familial components to the variation of dermatoglyphic traits. (c) Segregation analysis reveals the transmission of genetic effects in the families, which follows the Mendelian model and confirm major gene effect on factors 1 and 2, whereas there is no evidence of major gene effect or an environmental effect on factor 3. Conclusion:Major gene involvement with Mendelian expectation regarding finger dermatoglyphics is confirmed for all analyzed traits. However there is no evidence of significant support for major gene effect or environmental effect on palmar a-b ridge counts.

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Quantitative genetic analysis of circulating levels of biochemical markers of bone formation

2000

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Carboxyterminal propeptide of type 1 collagen (PICP) and bone Gla-protein-osteocalcin (BGP) are the most important components of the organic bone matrix and play a key role in bone formation. To investigate whether and to what extent variation of the plasma levels of these indices of bone turnover depends on genetic factors, we studied 355 adults belonging to nuclear pedigrees. Genetic analysis was carried out in 2 steps: 1) variance decomposition analysis was performed using the FISHER statistical package; and 2) complex segregation analysis implemented in the program package MAN. The effect of age and gender differences, gender hormones, as well as PTH and vitamin-D (calcidiol) plasma levels were evaluated simultaneously with the parameters of variance analysis. The results showed that about 50% of PICP variation is attributable to genetic factors. The effect of age was significant among men and postmenopausal women, whereas calcidiol influenced variation of PICP in premenopausal women. The results of variance analysis showed that some 40% of BGP, adjusted for confounding variables, can be explained in genetic factors. Age and PTH were important covariates for osteocalcin in men and premenopausal women. Exploration of the maximum likelihood estimates of the various hypotheses concerning the mode of intergenerational transmission of PICP and BGP demonstrated a good correspondence to the Mendelian mode of inheritance (i.e., major gene effect).

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Segregation analysis of quantitative traits

Cited by 27 publications

References 34 publications

Evidence for a major gene for bone mineral density/content in human pedigrees identified via probands with extreme bone mineral density

Evidence for a major gene for bone mineral density/content in human pedigrees identified via probands with extreme bone mineral density

Genetic Determinants of 22 Quantitative Dermatoglyphic Traits in the Chuvashian Population of Russia: Complex Segregation Analysis

Quantitative genetic analysis of circulating levels of biochemical markers of bone formation

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