Congenital heart defects and genetic variants in the methylenetetrahydroflate reductase gene
- C. Hobbs, S. J. James, M. Cleves
- MedicineJournal of Medical Genetics
- 10 June 2005
The apparent protective effect of the MTHFR 1298C allele against CHD could have several explanations and further study is needed.
Non-HLA genes modulate the risk of rheumatoid arthritis associated with HLA-DRB1 in a susceptible North American Native population
- H. El-Gabalawy, D. Robinson, K. Siminovitch
- BiologyGenes and Immunity
- 26 May 2011
The findings indicate that SE is prevalent and represents a major genetic risk factor for RA in this population and point to the importance of non-HLA genes in determining RA risk in a population with a high frequency of disease predisposing HLA-DRB1 alleles.
A survey of haplotype variants at several disease candidate genes: the importance of rare variants for complex diseases
Findings indicate that rare haplotypes/variants are important for disease susceptibility and cannot be ignored in genetics studies of complex diseases, and has profound implications for association studies and applications of the HapMap project.
Common variants at the PCOL2 and Sp1 binding sites of the COL1A1 gene and their interactive effect influence bone mineral density in Caucasians
The data suggested that the common genetic variants at the PCOL2 and Sp1 sites, and importantly, their interactive effects, may contribute to BMD variation in elderly Caucasian females.
The genetic basis of major depression
- K. Kendall, E. Van Assche, Y. Lu
- PsychologyPsychological Medicine
- 8 March 2021
A broad picture is presented of the current understanding of the Epidemiology, genetic epidemiology, molecular genetics, and gene-environment interplay in MDD to hold great promise for improving clinical care.
Genetic risk scores and family history as predictors of schizophrenia in Nordic registers
- Y. Lu, J. Pouget, P. Sullivan
- Medicine, PsychologyPsychological Medicine
- 25 September 2017
Combining national register data with measured genetic risk factors represents an important investigative approach for psychotic disorders and suggests the potential clinical utility of combining GRS and family history for early prediction and diagnostic improvements.
Identifying Modifier Loci in Existing Genome Scan Data
This work simulated multiple replicates of typical genome screening data on to two real family structures from a study of hypertrophic cardiomyopathy and concluded that mapping of modifier loci in existing samples is possible with two types of analyses.
Trans-Ethnic Analysis of Metabochip Data Identifies Two New Loci Associated with BMI
- J. Gong, K. Nishimura, U. Peters
- MedicineInternational Journal of Obesity
- 25 November 2017
Conducting studies in genetically diverse populations continues to be a valuable strategy for replicating known loci and uncovering novel BMI associations, and bioinformatic functional investigation of SNPs at these loci suggests a possible impact on pathways that regulate metabolism and adipose tissue.
Association of LRP5 Ala1330Val polymorphism with fracture risk: a meta-analysis.
The results of the current meta-analysis indicate that the LRP5 Ala1330Val polymorphism may not be correlated with fracture susceptibility and is not associated with the risk of fracture in Asians or Caucasians.
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