Genetic Contribution: Common Forms of Obesity

Author(s):  
David Albuquerque ◽  
Clévio Nóbrega
Keyword(s):  
2009 ◽  
Vol 35 (5) ◽  
pp. 778-785 ◽  
Author(s):  
Xiao-Jun LI ◽  
Xin XU ◽  
Wei-Hua LIU ◽  
Xiu-Quan LI ◽  
Xin-Ming YANG ◽  
...  

2019 ◽  
Vol 19 (9) ◽  
pp. 683-687 ◽  
Author(s):  
Tawfiq Froukh ◽  
Ammar Hawwari

Background: Keratoconus (KC) is usually bilateral, noninflammatory progressive corneal ectasia in which the cornea becomes progressively thin and conical. Despite the strong evidence of genetic contribution in KC, the etiology of KC is not understood in most cases. Methods: In this study, we used whole-exome sequencing to identify the genetic cause of KC in two sibs in a consanguineous family. The Homozygous frameshift variant NM_001253826.1:c.60delC;p.Leu21Cysfs*6 was identified in the gene Nacetylgalactosaminyltransferase 14 (GALNT14). The variant does not exist in all public databases neither in our internal exome database. Moreover, no database harbours homozygous loss of function variants in the candidate gene. Result: GALNT14 catalyses the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on target proteins especially Mucins. Conclusion: As alterations of mucin’s glycosylation are linked to a number of eye diseases, we demonstrate in this study an association between the truncated protein GALNT14 and KC.


2011 ◽  
Vol 7 (3) ◽  
pp. 443-448 ◽  
Author(s):  
Alexander E. Quinn ◽  
Stephen D. Sarre ◽  
Tariq Ezaz ◽  
Jennifer A. Marshall Graves ◽  
Arthur Georges

Sex in many organisms is a dichotomous phenotype—individuals are either male or female. The molecular pathways underlying sex determination are governed by the genetic contribution of parents to the zygote, the environment in which the zygote develops or interaction of the two, depending on the species. Systems in which multiple interacting influences or a continuously varying influence (such as temperature) determines a dichotomous outcome have at least one threshold. We show that when sex is viewed as a threshold trait, evolution in that threshold can permit novel transitions between genotypic and temperature-dependent sex determination (TSD) and remarkably, between male (XX/XY) and female (ZZ/ZW) heterogamety. Transitions are possible without substantive genotypic innovation of novel sex-determining mutations or transpositions, so that the master sex gene and sex chromosome pair can be retained in ZW–XY transitions. We also show that evolution in the threshold can explain all observed patterns in vertebrate TSD, when coupled with evolution in embryonic survivorship limits.


2016 ◽  
Vol 9 (9) ◽  
pp. 872-876 ◽  
Author(s):  
Yun-Xia Zhang ◽  
Ya Su ◽  
Li Tang ◽  
Ze-Xing Yang ◽  
Dai-Feng Zhou ◽  
...  
Keyword(s):  

Cytokine ◽  
2008 ◽  
Vol 44 (2) ◽  
pp. 242-247 ◽  
Author(s):  
Guowen Cai ◽  
Shelley A. Cole ◽  
Nancy F. Butte ◽  
C. Wayne Smith ◽  
Nitesh R. Mehta ◽  
...  

Science ◽  
2021 ◽  
Vol 372 (6549) ◽  
pp. 1424-1428
Author(s):  
Israel Hershkovitz ◽  
Hila May ◽  
Rachel Sarig ◽  
Ariel Pokhojaev ◽  
Dominique Grimaud-Hervé ◽  
...  

It has long been believed that Neanderthals originated and flourished on the European continent. However, recent morphological and genetic studies have suggested that they may have received a genetic contribution from a yet unknown non-European group. Here we report on the recent discovery of archaic Homo fossils from the site of Nesher Ramla, Israel, which we dated to 140,000 to 120,000 years ago. Comprehensive qualitative and quantitative analyses of the parietal bones, mandible, and lower second molar revealed that this Homo group presents a distinctive combination of Neanderthal and archaic features. We suggest that these specimens represent the late survivors of a Levantine Middle Pleistocene paleodeme that was most likely involved in the evolution of the Middle Pleistocene Homo in Europe and East Asia.


2013 ◽  
Vol 35 (4) ◽  
pp. 449-456 ◽  
Author(s):  
Daniele Nerling ◽  
Cileide Maria Medeiros Coelho ◽  
Rubens Onofre Nodari

The physiological quality is based on the genotype and may be accompanied since the first stages of selection through the study of genetic diversity. The purpose of this study was to evaluate the parental genetic contribution in the seed physiological quality in corn intervarietal crossbreeds. The intervarietal crossbreeds were performed using landraces genotypes, open pollinated varieties and commercial hybrids. The seeds obtained from the crossbreed, their equivalents and parentals were evaluated regarding their water percentage, germination, germination speed rate, accelerated aging, field emergence and electrical conductivity. The seeds obtained in the crossbreed are viable and vivid with heterosis when compared with the parentals. The accelerated aging test was more effective for selecting the strongest genotypes. The canonical variables were useful to group the genotypes that presented similar physiological characteristics. The genotypes MPA 01 x Pixurum 05, MPA 01 x AS1565, MPA 01 x SJC5886, SJC5886 x Pixurum 05 and Fundacep 35 x SCS 154 Fortuna were the best crossbreeds regarding the production of better physiological quality seeds.


2019 ◽  
Vol 8 (1) ◽  
pp. 115 ◽  
Author(s):  
Yu-Huei Huang ◽  
Chang-Fu Kuo ◽  
Lu-Hsiang Huang ◽  
Mei-Yun Hsieh

Psoriasis is considered to result from the interaction of genetic factors and environmental exposure. The evidence for familial aggregation in psoriasis has been reported but population-based studies related to the magnitude of genetic contribution to psoriasis are rare. This study aimed to evaluate the relative risks of psoriasis in individuals with affected relatives and to calculate the proportion of genetic, shared, and non-shared environmental factors contributing to psoriasis. The study cohort included 69,828 patients diagnosed with psoriasis enrolled in National health Insurance in 2010. The adjusted relative risks (RR) for individuals with an affected first-degree relative and affected second-degree relative were 5.50 (95% CI (Confidence Interval), 5.19–5.82) and 2.54 (95% CI, 2.08–3.12) respectively. For those who have affected first-degree relatives, their RR was 1.45 (95% CI, 1.17–1.79) for Sjogren’s syndrome and 1.94 (95% CI, 1.15–3.27) for systemic sclerosis. This nationwide study ascertains that family history of psoriasis is a risk factor for psoriasis. Individuals with relatives affected by psoriasis have higher risks of developing some autoimmune diseases.


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