使用多因素易患性阈值模型评估双相情感障碍的遗传度缺失

为了评估双向情感障碍的遗传度缺失,文章通过查询美国国家人类基因组研究所(National Human Genome Research Institute,NHGRI)的gwascatalog目录,检索出所有已发现的双相情感障碍易感变异,使用多因素易患性阈值模型计算每个易感变异对双相情感障碍遗传度的解释度。将所有易感变异遗传度解释度求和得到双相情感障碍已知易感变异对遗传度的总解释度,使用此总解释度评估双相情感障碍的遗传度缺失。结果显示,已知双相情感障碍易感变异对双相情感障碍遗传度的合计解释度为38.34%,尚有61.66%的遗传度无法被已有易感变异解释,属于遗传度缺失。双相情感障碍38.34%的遗传度解释度较早前国外同类研究大幅度提高,表明随着新的双相情感障碍易感变异被不断发现,双相情感障碍遗传度缺失得到大幅度减小。但双相情感障碍遗传度缺失依然存在且数目较大的事实也表明双相情感障碍尚存在许多未知的分子遗传学机制有待进一步阐明。     

Variance and covariance components for liability of piglet survival during different periods

Variance and covariance components for piglet survival in different periods were estimated from individual records of 133 004 Danish Landrace piglets and 89 928 Danish Yorkshire piglets, using a liability threshold model including both direct and maternal additive genetic effects. At the individual piglet level, the estimates of direct heritability in Landrace were 0.035, 0.057 and 0.027, and in Yorkshire the estimates were 0.012, 0.030 and 0.025 for liability of survival at farrowing (SVB), from birth to day 5 (SV5) and from day 6 to weaning (SVW), respectively. The estimates of maternal heritability for SVB, SV5 and SVW were, respectively, 0.057, 0.040 and 0.030 in Landrace, and 0.050, 0.038 and 0.019 in Yorkshire. Both direct and maternal genetic correlations between the three survival traits were low and not significantly different from zero, except for a moderate direct genetic correlation between SVB and SV5 and between SV5 and SVW in Landrace. Direct and maternal genetic correlations between piglet birth weight (BW) and SV5 were moderately high, but the correlations between BW and SVB and between BW and SVW were low and most of them were not significantly different from zero. These results suggest that effective genetic improvement in piglet survival before weaning by selection should be based on both direct and maternal additive genetic effects and treat survival in different periods as different traits.     

Missing heritability of complex diseases: Enlightenment by genetic variants from intermediate phenotypes

Diseases of complex origin have a component of quantitative genetics that contributes to their susceptibility and phenotypic variability. However, after several studies, a major part of the genetic component of complex phenotypes has still not been found, a situation known as “missing heritability.” Although there have been many hypotheses put forward to explain the reasons for the missing heritability, its definitive causes remain unknown. Complex diseases are caused by multiple intermediate phenotypes involved in their pathogenesis and, very often, each one of these intermediate phenotypes also has a component of quantitative inheritance. Here we propose that at least part of the missing heritability can be explained by the genetic component of intermediate phenotypes that is not detectable at the level of the main complex trait. At the same time, the identification of the genetic component of intermediate phenotypes provides an opportunity to identify part of the missing heritability of complex diseases.     

NATURAL HERITABILITIES: CAN THEY BE RELIABLY ESTIMATED IN THE LABORATORY?

The validity of the assumption, that laboratory estimates of heritabilities will tend to overestimate natural heritabilities, due to a reduction in environmental variability and thus the phenotypic variance of traits, is examined. One hundred sixty-five field estimates of narrow sense heritabilities derived from the literature are compared with 189 estimates from laboratory studies on wild, outbred animal populations derived from the data set of Mousseau and Roff. The results indicate that 84% of field heritabilities are significantly different from zero and that for morphological, behavioral, and life-history traits there are no significant differences between laboratory and field estimates of heritability. Unexpectedly, mean heritabilities for morphological and life-history traits are actually higher in the field than in the lab. Twenty-two cases were found for which both laboratory and natural heritabilities had been estimated on the same traits. For this subset of the data, laboratory heritabilities tended to be higher than field estimates, but the difference was not significant. Also, the correlation between lab and field estimates was high (r = 0.6, P < 0.001), and the regression slope did not differ significantly from one. The major implications of this study are that laboratory estimates of heritability should generally provide reasonable estimations of both the magnitude and the significance of heritabilities in nature.     

Specifity of Genetic Determination of Content of Photosynthetic Pigments in Triticale

Lines of winter hexaploid Triticale and their F₁ and F₂ hybrids differing in morphological structure, pigment contents, photosynthetic productivity, and grain crops were studied. F₁ hybrids received by crossing of Triticale lines contrasting in pigment contents showed in some cases a heterosis effect for chlorophyll (Chl) content per unit leaf area. Variation analysis demonstrated a polygenic control of Triticale pigment contents, and different rate of increase in F₂ generation. We found maternal type of heritability of Chl b content and Chl content in light-harvesting complex of photosystem 2.     

Heritability of dispersal in the great reed warbler

Dispersal is commonly considered to be a condition‐dependent behaviour with no or low heritability. Here, we show that dispersal in the great reed warbler (Acrocephalus arundinaceus) has a high heritability. Analyses of capture–recapture data of male great reed warblers gathered from the species’ whole Swedish breeding range revealed a remarkable offspring–parent resemblance in dispersal behaviour (philopatry vs. inter‐population dispersal). Also, the degree of dispersal differed between cohorts, which shows that dispersal was partly conditionally dependent. The offspring to mid‐parent estimate of heritability was 0.50. In a previous study of the same data set of male offspring, we did not detect associations between dispersal and several relevant environmental, parental and offspring condition factors. Thus, our results indicate that variation in dispersal partly has a genetic basis in great reed warblers.     

普通甜荞主要数量性状相关遗传力的测定

对24个普通甜荞品种,7个主要数量性状,进行了遗传力、遗传相关和相关遗传力的测定．结果表明：株粒数与株粒重h_xy~2=0.8208,有效花序数与株粒重h_xy~2=0.6829,千粒重与株粒重h_xy~2=0.4498;株高、主茎节数,一级分枝数3个性状与株粒重的相关遗传力差异均不显著。     

Phenotypic and genetic variation in male genitalia in the seedbug, Lygaeus equestris (Heteroptera)

Male genitalia evolve through sexual selection and, in insects, tend to show negative static allometry, low phenotypic variation, and are usually relatively small. Much less is known about the genetic variation and heritability of male genitalia. Additionally, in instances where the intromittent organ is greatly elongated, it is unclear whether typical patterns of genital scaling and variation also apply. In the present study, we investigated the allometry, variation, and heritability of male genital length in the seedbug, Lygaeus equestris , a species with a greatly elongated intromittent organ (i.e. almost as long as male body size). We found that genital length was negatively allometric, in spite of its great length, and was no more variable than nongenital traits. Additionally, genital length was significantly heritable and had considerable evolvability.  © 2009 The Linnean Society of London, Biological Journal of the Linnean Society , 2009, 98 , 400–405.     

Genetic and Behavioral Determinants of Waist-Hip Ratio and Waist Circumference in Women Twins

ROSE, KATHRYN M, BETH NEWMAN, ELIZABETH J. MAYER-DAVIS, JOSEPH V. SELBY. Genetic and behavioral determinants of waist-hip ratio and waist circumference in women twins. Obes Res. 1998;6:383–392. Objectives : This study examines genetic and behavioral determinants of waist-hip ratio (WHR) and waist circumference among women twins. Research Methods and Procedures : Six hundred eighty participants from the second examination of the Kaiser-Permanente Women Twins Study (1989 to 1990) were included. Women ranged in age from 31 to 90 years, and included 59% monozygotic and 41% dizygotic twins. Heritabilities of WHR and waist circumference were estimated (range = 0 to 1) using three different statistical methods. Linear regression models that adjusted for the lack of independence within twin pairs were used to assess associations between behavioral variables, WHR, and waist circumference. Results : Age and body mass index-adjusted heritability estimates ranged from 0.36 to 0.61 for WHR and 0.72 to 0.82 for waist circumference. When considered individually, after adjusting for age and body mass index, all behavioral characteristics, except calorie-adjusted fat intake, were significantly (p<0.10) associated with waist circumference and WHR. Greater central adiposity was associated with lower education, higher alcohol consumption, lower physical activity, current cigarette smoking, higher parity, and postmenopausal status without hormone replacement therapy. In multivariate models, these associations persisted, except neither educational attainment nor alcohol intake was significantly associated with waist circumference. In longitudinal analyses, both measures were positively associated with current or recent-past smoking; infrequent or inconsistent physical activity; and long-term, daily consumption of alcohol. Discussion : These cross-sectional and longitudinal associations are consistent with genetic and behavioral predictors of waist circumference and WHR. Whereas the evidence for genetic influences is stronger for waist circumference, both body fat measures may be similarly influenced by the behavioral factors considered.     

HERITABILITY OF AEROBIC POWER OF INDIVIDUALS IN NORTHEAST BRAZIL

The objective of this study was to evaluate the genetic and environmental contribution to variation in aerobic power in monozygotic (MZ) and dizygotic (DZ) twins. The sample consisted of 20 MZ individuals (12 females and 8 males) and 16 DZ individuals (12 females and 4 males), aged from 8 to 26 years, residents in Natal, Rio Grande do Norte. The twins were assessed by a multistage fitness test. The rate of heritability found for aerobic power was 77%. Based on the results, the estimated heritability was largely responsible for the differences in aerobic power. This implies that such measures are under strong genetic influence.     

Estimation of heritability by parent-offspring regression

Summary The implications of bias due to previous inbreeding of parents and genotype x environmental interaction on narrow sense heritability (h²) estimates by parent-offspring regression are enumerated. To remove the bias caused by genotype x environment interaction, an analysis of covariance model could be used. In special cases, where phenotypic expression is a result of two organisms interacting, such as in symbiotic N₂ fixation, an analysis of covariance model with a test of heterogeneity of slopes is recommended. When host genotype x strain interactions are significant, separate heritability estimates for each strain are suggested to take advantage of genotype x strain interaction, which may be a major factor contributing to the expression of N₂ fixation traits.     

Mode of inheritance of face fly diapause and its correlation with other developmental traits

Abstract.

• 1 Adult face flies, Musca autumnalis De Geer, respond to short photoperiods by entering diapause. Diapause responses to different photoperiods at a mean temperature of 17°C varied among seven laboratory face fly strains. Old strains lost much of their diapause responses.
• 2 To analyse the nature of diapause inheritance, hybrids and their back-crosses were made between two strains that showed the greatest difference in diapause introduction at 10:14 h(L:D), and 17°C.
• 3 Responses of hybrids to the short photoperiod were intermediate to those of their parents. Joint scaling tests showed that diapause did not fit an additive model and the lack of fit was attributed to incomplete dominance. No cytoplasmic effect was detected, but diapause was partially sex linked.
• 4 Diapause heritabilities were 47% and 30% in the broad and narrow senses, respectively.
• 5 Estimates of the minimum number of diapause genes suggested a small number.
• 6 Developmental rates of egg to adult, ovarian follicle growth, and pterin accumulation were inversely correlated with diapause propensities, suggesting pleiotropy or linkage.

     

Genetic parameters for bone strength, osteochondrosis and meat percentage in Finnish Landrace and Yorkshire pigs

Osteochondrosis (OC) is a major factor causing joint problems that affect animal welfare and pork production profitability. Strong bones are also important in the slaughtering process, especially as broken bones can lead to rejections of parts of the carcass. In this study, 326 Finnish Yorkshire and 464 Finnish Landrace test station pigs were examined post mortem for bone strength and osteochondral lesions. The objective was to estimate genetic parameters for OC and bone strength and their genetic and phenotypic correlations with carcass meat percentage. Two formulas were used for lean meat percentage, the first one (Hennessy meat-%) comprising two fat thickness measurements and one muscle depth measurement, and the second one (test station meat-%) also including the weight of lean meat in ham. Finnish Yorkshire had stronger bones than Finnish Landrace on average, but also more OC in the proximal end of the humerus (36%) and the distal end of the femur (51%) than Finnish Landrace (29% and 31% OC in the humerus and femur, respectively). By using the data on both breeds, the OC heritability estimated was 0.05 in the humerus and 0.26 in the femur. The estimated heritability of bone strength was also moderate (0.26). Test station meat-% showed higher heritability (0.40) than meat-% based on the Hennessy formula (0.29). Genetic correlations between meat percentage and the other studied traits were weak and associated with high standard errors. The results show that a mild form of OC is common in both Finnish pig breeds; bone strength and OC in the distal end of the femur are moderately heritable and can be improved through selection; and selection for high meat percentage does not seem to affect bone strength or OC.     

Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics

To identify genetic loci influencing blood lipid levels in Caribbean Hispanics, we first conducted a genome-wide linkage scan in 1,211 subjects from 100 Dominican families on five lipid quantitative traits: total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), triglycerides (TG), and LDL-C/HDL-C ratio. We then investigated the association between blood lipid levels and 21,361 single nucleotide polymorphisms (SNP) under the 1-logarithm of odds (LOD) unit down regions of linkage peaks in an independent community-based subcohort (N = 814, 42% Dominican) from the Northern Manhattan Study (NOMAS). We found significant linkage evidence for LDL-C/HDL-C on 7p12 (multipoint LOD = 3.91) and for TC on 16q23 (LOD = 3.35). In addition, we identified suggestive linkage evidence of LOD > 2.0 on 15q23 for TG, 16q23 for LDL-C, 19q12 for TC and LDL-C, and 20p12 for LDL-C. In the association analysis of the linkage peaks, we found that seven SNPs near FLJ45974 were associated with LDL-C/HDL-C with a nominal P < 3.5 × 10(-5), in addition to associations (P < 0.0001) for other lipid traits with SNPs in or near CDH13, SUMF2, TLE3, FAH, ARNT2, TSHZ3, ZNF343, RPL7AL2, and TMC3. Further studies are warranted to perform in-depth investigations of functional genetic variants in these regions.     

水分胁迫下冬小麦芽鞘长度与抗旱性的关系及其遗传特性的研究

研究结果表明：抗旱性不同的小麦品种低水势下芽鞘长差异显著,抗旱性强的品种芽鞘长度高于抗旱性弱的品种。分析了低水势下芽鞘长度与大田干旱条件下产量的相关性,发现低水势下芽鞘长度与旱田产量,抗旱系数的相产 达显著或极显著水平。对低水势下芽鞘长度的遗传率进行了测定,证明该指标的广义遗传率及狭义遗传率都很高,可以用这一指标在进育种早代材料中进行抗旱个体选择。认为,低水势下芽鞘长是抗旱鉴定与抗育种个体选择的良     

Genetic parameters of eventing horse competition in France

Genetic parameters of eventing horse competitions were estimated. About 13 000 horses, 30 000 annual results during 17 years and 110 000 starts in eventing competitions during 8 years were recorded. The measures of performance were logarithmic transformations of annual earnings, annual earnings per start, and annual earnings per place, and underlying variables responsible for ranks in each competition. Heritabilities were low (0.11/0.17 for annual results, 0.07 for ranks). Genetic correlations between criteria were high (greater than 0.90) except between ranks and earnings per place (0.58) or per start (0.67). Genetic correlations between ages (from 5 to 10 years old) were also high (more than 0.85) and allow selection on early performances. The genetic correlation between the results in different levels of competition (high/international and low/amateur) was near 1. Genetic correlations of eventing with other disciplines, which included partial aptitude needed for eventing, were very low for steeplechase races (0.18) and moderate with sport: jumping (0.45), dressage (0.58). The results suggest that selection on jumping performance will lead to some positive correlated response for eventing performance, but much more response could be obtained if a specific breeding objective and selection criteria were developed for eventing.     

RESPONSE TO SELECTION ON AUTOGAMY IN PHLOX

Two cycles of artificial selection were performed to increase autogamous fruiting in two wild populations of the self-incompatible Phlox drummondii, to decrease autogamous fruiting in two wild populations of the self-compatible Phlox cuspidata, and to both increase and decrease autogamous fruiting in a cultivar of P. drummondii which is pseudo-self-compatible. The breeding systems were determined to be genetically quite flexible, independent of inbreeding depression and other genetic phenomena which could hinder a breeding system shift. This is especially true for increasing autogamy. Self-pollen-pistil compatibility seems to be the single character affected by selection. Based on the continuous variation in both autogamy and self-compatibility, we suggest that the change has been due to genes which modify the self-incompatibility reaction rather than to the simple segregation of alleles at the S-locus.