… genetics …

  title={… genetics …},
  author={Beryl Bainbridge},
Introduction: We conducted a systematic review and comprehensive meta-analysis of all candidate genes to assess their genetic contribution to the aetiology of cerebral sinovenous thrombosis (CSVT). Genetic thrombophilias have been predicted to underpin around 22% of CSVT cases but quantitative predictions of risk conferred by certain genotypes have yet to be conclusively established. Method: Electronic databases and library journals were searched up until the beginning of April 2010 for any… 
Association between bone marrow stromal cell antigen 1 gene polymorphisms and the susceptibility to Parkinson’s disease: a meta-analysis
It is suggested that the rs4698412 variant of BST-1 may increase the PD susceptibility, and no evidence of publication bias was observed in the meta-analysis.
Genome‐wide Linkage Analysis of Multiple Metabolic Factors: Evidence of Genetic Heterogeneity
Findings confirmed findings of previous studies that mapped components of the metabolic syndrome to a chromosome 1q region and found evidence of genetic heterogeneity by FHD for the three metabolic factors.
Novel Implications in Molecular Diagnosis of Lynch Syndrome
A novel inheritance model in the Lynch syndrome is speculated through a review of the recent literature, which could pave the way toward new diagnostic perspectives.
No genetic support for a contribution of prostaglandins to the aetiology of androgenetic alopecia
This approach may also function to favour biological pathways for their importance in the development of AGA, because the presence of genetic association suggests that candidate genes are likely to operate early in the causative chain of events leading to the phenotype.
Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
A common genetic variation at chromosome band 6p22 is associated with susceptibility to neuroblastoma and homozygosity for the at-risk G allele of the most significantly associated SNP, rs6939340, resulted in an increased likelihood of the development of Neuroblastoma.
Influence of Gene Action Across Different Time Scales on Behavior
this large multicenter sample, we were unable to detect a schizophrenia susceptibility locus of major effect on chromosome 1q. It remains possible that the genes identified as disrupted in the
Genetics of Schizophrenia: Overview of Methods, Findings and Limitations
The genetic architecture of schizophrenia has proven to be highly complex, heterogeneous and polygenic, and the knowledge of the etiopathogenesis of schizophrenia and the genotype-environment interactions remain limited.
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
The clinical results show that the homozygous p.Ala467Thr POLG mutation does not cause discrete phenotypes, but rather there is a continuum of clinical symptoms, suggesting that the mitochondrial DNA background plays an important role in modifying the disease phenotype but nuclear modifiers, epigenetic and environmental factors may also influence the severity of disease.
Folate Intake, MTHFR Polymorphisms, and the Risk of Colorectal Cancer: A Systematic Review and Meta-Analysis
The results suggest that the 677TT genotype is associated with a reduced risk of developing CRC, under conditions of high total folate intake, and this associated risk remains reduced for both MTHFR 677 CC and TT genotypes.
Association study of PDE4B gene variants in scandinavian schizophrenia and bipolar disorder multicenter case–control samples
  • A. Kähler, Mona K. Otnæss, +14 authors S. Djurovic
  • Medicine
    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
  • 2010
Four tagSNPs were associated with SZ in women, but none in men, in agreement with the previously reported gender‐specific effect, and four SNPs were found to be associated with Positive And Negative Syndrome Scale (PANSS) positive symptom scores in a subgroup of SZ patients.


Social work and genetic counseling.
  • J. Weiss
  • Medicine
    Social work in health care
  • 1976
Genetic counselors often impart anxiety-producing information to the patient and his family. A social worker should be available to help these individuals deal with the emotional impact of the