The single nucleotide polymorphisms gene but not the copy number variation of Fcgr3B is associated with lupus nephritis in Chinese people

Schizophrenia and bipolar disorder are the classic psychotic disorders. Both diseases are strongly familial, but have proven recalcitrant to genetic methodologies for identifying the etiology until recently. There is now convincing genetic evidence that indicates a contribution of many DNA changes to the risk of becoming ill. For schizophrenia, there are large contributions of rare copy number variants and common single nucleotide variants, with an overall highly polygenic genetic architecture. For bipolar disorder, the role of copy number variation appears to be much less pronounced. Specific common single nucleotide polymorphisms are associated, and there is evidence for polygenicity. Several surprises have emerged from the genetic data that indicate there is significantly more molecular overlap in copy number variants between autism and schizophrenia, and in common variants between schizophrenia and bipolar disorder.

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Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Nature Genetics ◽

10.1038/ng.327 ◽

2009 ◽

Vol 41 (3) ◽

pp. 334-341 ◽

Cited By ~ 720

Author(s):

Keyword(s):

Myocardial Infarction ◽

Single Nucleotide Polymorphisms ◽

Early Onset ◽

Copy Number ◽

Copy Number Variants ◽

Genome Wide Association ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Genome Wide

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Acetylcholine-metabolizing butyrylcholinesterase (BCHE) copy number and single nucleotide polymorphisms and their role in attention-deficit/hyperactivity syndrome

Journal of Psychiatric Research ◽

10.1016/j.jpsychires.2013.08.006 ◽

2013 ◽

Vol 47 (12) ◽

pp. 1902-1908 ◽

Cited By ~ 12

Author(s):

Christian P. Jacob ◽

Heike Weber ◽

Wolfgang Retz ◽

Sarah Kittel-Schneider ◽

Julia Heupel ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Attention Deficit ◽

Copy Number ◽

Nucleotide Polymorphisms ◽

Single Nucleotide

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Population genetics of immune-related multilocus copy number variation in Native Americans

Journal of The Royal Society Interface ◽

10.1098/rsif.2017.0057 ◽

2017 ◽

Vol 14 (128) ◽

pp. 20170057 ◽

Cited By ~ 3

Author(s):

Luciana W. Zuccherato ◽

Silvana Schneider ◽

Eduardo Tarazona-Santos ◽

Robert J. Hardwick ◽

Douglas E. Berg ◽

...

Keyword(s):

Population Genetics ◽

Population Structure ◽

Native American ◽

Native Americans ◽

Copy Number Variation ◽

Copy Number ◽

Genomic Variation ◽

Population Subdivision ◽

Nucleotide Polymorphisms ◽

Number Variation

While multiallelic copy number variation (mCNV) loci are a major component of genomic variation, quantifying the individual copy number of a locus and defining genotypes is challenging. Few methods exist to study how mCNV genetic diversity is apportioned within and between populations (i.e. to define the population genetic structure of mCNV). These inferences are critical in populations with a small effective size, such as Amerindians, that may not fit the Hardy–Weinberg model due to inbreeding, assortative mating, population subdivision, natural selection or a combination of these evolutionary factors. We propose a likelihood-based method that simultaneously infers mCNV allele frequencies and the population structure parameter f , which quantifies the departure of homozygosity from the Hardy–Weinberg expectation. This method is implemented in the freely available software CNVice, which also infers individual genotypes using information from both the population and from trios, if available. We studied the population genetics of five immune-related mCNV loci associated with complex diseases (beta-defensins, CCL3L1/CCL4L1 , FCGR3A , FCGR3B and FCGR2C ) in 12 traditional Native American populations and found that the population structure parameters inferred for these mCNVs are comparable to but lower than those for single nucleotide polymorphisms studied in the same populations.

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