The genetics of quantitative traits: challenges and prospects

Mackay, Trudy F. C.; Stone, Eric A.; Ayroles, Julien F.

doi:10.1038/nrg2612

Cited by 1,147 publications

(1,158 citation statements)

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“…Possible explanations for pleiotropic effects are that positive genetic correlations between phenotypic traits (i.e. affecting the traits in the same direction) occur if they share common biological pathways, while negative genetic correlations might be 'evolutionarily' beneficial when a genetic mutation favourable to one trait can be harmful for another trait [56]. Interestingly, we observed both types of genetic correlation in our study.…”

Section: Discussionsupporting

confidence: 57%

Pleiotropic effects of obesity-susceptibility loci on metabolic traits: a meta-analysis of up to 37,874 individuals

et al. 2013

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Aims/hypothesis Genetic pleiotropy may contribute to the clustering of obesity and metabolic conditions. We assessed whether genetic variants that are robustly associated with BMI and waist-to-hip ratio (WHR) also influence metabolic and cardiovascular traits, independently of obesity-related traits, in meta-analyses of up to 37,874 individuals from six European population-based studies. Methods We examined associations of 32 BMI and 14 WHR loci, individually and combined in two genetic predisposition scores (GPSs), with glycaemic traits, blood lipids and BP, with and without adjusting for BMI and/or WHR. Results We observed significant associations of BMIincreasing alleles at five BMI loci with lower levels of 2 h glucose (RBJ [also known as DNAJC27], QPTCL: effect sizes −0.068 and −0.107 SD, respectively), HDL-cholesterol (SLC39A8: −0.065 SD, MTCH2: −0.039 SD), and diastolic BP (SLC39A8: −0.069 SD), and higher and lower levels of LDL-and total cholesterol (QPTCL: 0.041 and 0.042 SDs, respectively, FLJ35779 [also known as POC5]: −0.042 and −0.041 SDs, respectively) (all p<2.4×10 −4 ), independent of BMI. The WHR-increasing alleles at two WHR loci were significantly associated with higher proinsulin (GRB14: 0.069 SD) and lower fasting glucose levels (CPEB4: −0.049 SD), independent of BMI and WHR. A higher GPS-BMI was associated with lower systolic BP (−0.005 SD), diastolic BP (−0.006 SD) and 2 h glucose (−0.013 SD), while a higher GPS-WHR was associated with lower HDL-cholesterol Electronic supplementary material The online version of this article (doi:10.1007/s00125-013-2985-y) contains peer-reviewed but unedited supplementary material, which is available to authorised users. J. V. van Vliet-Ostaptchouk : M. M. van der Klauw :

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Section: Discussionsupporting

confidence: 57%

Pleiotropic effects of obesity-susceptibility loci on metabolic traits: a meta-analysis of up to 37,874 individuals

et al. 2013

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“…Interspecific QTL analysis with S. lycopersicum would be a logical step towards characterisation and application of the traits. Phenotypic improvement from QTLs depend on unpredictable interactions with the genetic background, probably because variation often involves additional, undetected small-effect loci (Mackay et al 2009). Moreover, for successful application, it will be important to consider the environmental context dependency of the expression of QTLs (Collins et al 2008).…”

Section: Resultsmentioning

confidence: 99%

Exploring the natural variation for reproductive thermotolerance in wild tomato species

et al. 2018

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Climate change has become a serious threat for crop productivity worldwide. The increased frequency of heat waves strongly affects reproductive success and thus yield for many crop species, implying that breeding for thermotolerant cultivars is critical for food security. Insight into the genetic architecture of reproductive heat tolerance contributes to our fundamental understanding of the stress sensitivity of this process and at the same time may have applied value. In the case of tomato (Solanum lycopersicum), germplasm screenings for thermotolerance have often used yield as the main measured trait. However, due to the complex nature of yield and the relatively narrow genetic variation present in the cultivated germplasm screened, there has been limited progress in understanding the genetic basis of reproductive heat tolerance. Extending the screening to wild accessions of related species that cover a range of climatic conditions might be an effective approach to find novel, more tolerant genetic resources. The purpose of this study was to provide insight into the sensitivity of individual reproductive key traits (i.e. the number of pollen per flower, pollen viability and style protrusion) to heat-wave like long-term mild heat (LTMH), and determine the extent to which genetic variation exists for these traits among wild tomato species. We found that these traits were highly variable among the screened accessions. Although no overall thermotolerant species were identified, several S. pimpinellifolium individuals outperformed the best performing cultivar in terms of pollen viability under LTMH. Furthermore, we reveal that there has been local adaptation of reproductive heat tolerance, as accessions from lower elevations and higher annual temperature are more likely to show high pollen viability under LTMH.

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“…As with family studies in humans, the effect of the mutation needs to be large (>3 SD) to be recognized, and the causative gene identified and reported [14]. These approaches probably miss loci where the mutations have more subtle effects [15]. Despite this, spontaneous and chemically induced screens have been successful in identifying over 500 genes associated with abnormal postnatal growth or body size [16].…”

Section: Variants Of Large Effectmentioning

confidence: 99%