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Longer titles found: 1q21.1 copy number variations (view)

searching for Copy number variation 106 found (184 total)

Representational oligonucleotide microarray analysis (416 words) [view diff] exact match in snippet view article find links to article

currently run laboratories at CSHL using ROMA to explore genomic copy number variation in cancer and other genetic diseases. In this technique, two genomes

Charles Lee (scientist) (1,720 words) [view diff] exact match in snippet view article

Carter NP, Lee C*, Stone AC*. Diet and the evolution of human gene copy number variation. Nat Genet. 2007; 39: 1256–60 *Co-senior authors 2007: Lee C, Iafrate

Stephen W. Scherer (5,059 words) [view diff] exact match in snippet view article find links to article

in Physiology or Medicine for the “Discovery of large-scale gene copy number variation and its association with specific diseases.” Scherer was born in

Structural variation in the human genome (3,756 words) [view diff] exact match in snippet view article find links to article

of copy number variants in the human genome. It was known that copy number variation in the human genome is important but at this point of time, it had

8p23.1 duplication syndrome (779 words) [view diff] exact match in snippet view article find links to article

be distinguished using conventional cytogenetics from high level copy number variation of the repeats themselves. Both de novo cases and families with

Happy mapping (422 words) [view diff] no match in snippet view article find links to article

mapping has also been adapted to allow the precise analysis of copy-number variation, and in particular the analysis of copy-number changes in cancer

FCGR2C (586 words) [view diff] exact match in snippet view article find links to article

M, Peters M, Roos D, de Haas M, Koene HR, Kuijpers TW (2008). "Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic

C4A (1,679 words) [view diff] exact match in snippet view article find links to article

G, Doleschall M (2013). "Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene". Genome Biol Evol. 5 (1):

Complement component 4B (1,049 words) [view diff] exact match in snippet view article find links to article

G, Doleschall M (2013). "Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene". Genome Biol Evol. 5 (1):

Short interspersed nuclear element (5,252 words) [view diff] exact match in snippet view article find links to article

making them useful markers of divergent evolution between species. Copy number variation and mutations in the SINE sequence make it possible to construct

Chilodonella uncinata (1,407 words) [view diff] exact match in snippet view article find links to article

PMID 17890762. Spring, KS; Pham, S; Zufall, RA (2013). "Chromosome copy number variation and control in the ciliate Chilodonella uncinata". PLOS ONE. 8 (2):

Flow cytometry (6,912 words) [view diff] exact match in snippet view article find links to article

specific chromosomes or chromosomal abnormalities. DNA copy number variation: DNA copy number variation can be measured using flow cytometry techniques such

GJC2 (714 words) [view diff] exact match in snippet view article find links to article

Uhlenberg B (2009). "Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease"

Wellcome Sanger Institute (3,938 words) [view diff] case mismatch in snippet view article find links to article

Consortium SNP (Single nucleotide polymorphism) Consortium The Copy Number Variation Project The genome sequencing of S. pombe, C. elegans, mouse and

Zinc transporter ZIP9 (2,421 words) [view diff] no match in snippet view article find links to article

Krumm N, Lee MK (October 2013). "Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia". The American Journal

Evdokia Anagnostou (897 words) [view diff] exact match in snippet view article find links to article

of General Psychiatry. 2009. Glessner et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature. 2009. Pinto et al

Michael Wigler (2,176 words) [view diff] exact match in snippet view article find links to article

microarray analysis: a high –resolution method to detect genome copy number variation." Genome Research 13: 2291-2305. PMC 403708 Sebat, J., Muthuswamy

Amylase (2,550 words) [view diff] exact match in snippet view article find links to article

AC (October 2007). "Diet and the evolution of human amylase gene copy number variation". Nature Genetics. 39 (10): 1256–1260. doi:10.1038/ng2123. PMC 2377015

Molecular cytogenetics (1,696 words) [view diff] exact match in snippet view article find links to article

cell division, which is the most informative time for observing copy number variation. CGH uses creates a map that shows the relative abundance of DNA

PRR23C (804 words) [view diff] case mismatch in snippet view article find links to article

Evolution in Humans and Macaques Supports an Adaptive Role for Copy Number Variation of the b-Defensin-2 Gene". Genome Biology and Evolution. 6 (11):

Α-Amylase (2,301 words) [view diff] exact match in snippet view article find links to article

AC (October 2007). "Diet and the evolution of human amylase gene copy number variation". Nature Genetics. 39 (10): 1256–60. doi:10.1038/ng2123. PMC 2377015

Hemoglobinopathy (2,224 words) [view diff] exact match in snippet view article find links to article

state within the same tetrameric haemoglobin unit.[citation needed] Copy number variation (e.g., deletion, duplication, insertion) is also a common genetic

AK-47 (cannabis) (959 words) [view diff] exact match in snippet view article

(2015-10-08). "Single molecule sequencing of THCA synthase reveals copy number variation in modern drug-type Cannabis sativa L": 028654. doi:10.1101/028654

CYLD cutaneous syndrome (4,092 words) [view diff] exact match in snippet view article find links to article

an active protein but are detected as "normal" CYLD mRNA; and 3) copy number variation mutations that result in the development of CYLD mRNA levels that

Klaus-Peter Lesch (402 words) [view diff] exact match in snippet view article find links to article

H, Warnke A, Reif A, Ropers HH, Ullmann R (2011). "Genome-wide copy number variation analysis in ADHD: association with neuropeptide Y gene dosage in

DEFB104A (597 words) [view diff] exact match in snippet view article find links to article

Hollox EJ, Armour JA, Barber JC (September 2003). "Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster". American Journal

CDK5RAP2 (1,236 words) [view diff] exact match in snippet view article find links to article

Cox M, Hopkins J, Pollack JR, Sikela JM (September 2007). "Gene copy number variation spanning 60 million years of human and primate evolution". Genome

Helmy Eltoukhy (2,711 words) [view diff] exact match in snippet view article find links to article

genetic variants, (2015). Methods to detect rare mutations and copy number variation, (2016). Methods for multi-resolution analysis of cell-free nucleic

Zinc transporter ZIP12 (2,876 words) [view diff] exact match in snippet view article find links to article

Lionel AC, Uddin M, Thiruvahindrapuram B, Liang S, et al. (2014). "Copy number variation in Han Chinese individuals with autism spectrum disorder". Journal

DEFB105A (506 words) [view diff] exact match in snippet view article find links to article

PMID 15588320. Hollox EJ, Armour JA, Barber JC (2003). "Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster". Am. J. Hum. Genet

Bio-Rad Laboratories (1,280 words) [view diff] exact match in snippet view article find links to article

scientists to distinguish rare sequences in tumors and precisely measure copy number variation. In January 2013, Bio-Rad purchased AbD Serotec, a division of MorphoSys

Olfactory receptor (4,353 words) [view diff] exact match in snippet view article find links to article

025. PMID 15716120. Nozawa M, Nei M (2008). "Genomic drift and copy number variation of chemosensory receptor genes in humans and mice". Cytogenetic

SETBP1 (1,007 words) [view diff] exact match in snippet view article find links to article

Silfhout AT, Bosco P, et al. (October 2014). "Refining analyses of copy number variation identifies specific genes associated with developmental delay".

Phosphatidylserine synthase 1 (366 words) [view diff] exact match in snippet view article find links to article

AREG genes are implicated in a Lebanese population-based study of copy number variation in autism". Sci Rep. 6: 19088. Bibcode:2016NatSR...619088S. doi:10

FEZF1 (611 words) [view diff] exact match in snippet view article find links to article

Monaco AP (September 2010). "High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4

CDY1 (752 words) [view diff] exact match in snippet view article find links to article

YB, Li X, Zhang F, Wang DM, Yu J (2012). "A preliminary study of copy number variation in Tibetans". PLOS ONE. 7 (7): e41768. Bibcode:2012PLoSO...741768Z

DEFA3 (350 words) [view diff] exact match in snippet view article find links to article

gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. ENSG00000284835 GRCh38: Ensembl release 89: ENSG00000239839, ENSG00000284835

SPANXB1 (568 words) [view diff] exact match in snippet view article find links to article

the same gene cluster. This family member is also subject to gene copy number variation. Although the protein encoded by this gene contains consensus nuclear

DLGAP2 (939 words) [view diff] exact match in snippet view article find links to article

Merico D, Regan R, et al. (2010). "Functional impact of global rare copy number variation in autism spectrum disorders". Nature. 466 (7304): 368–72. Bibcode:2010Natur

SRGAP2 (805 words) [view diff] exact match in snippet view article find links to article

Bruhn L, Shendure J, Eichler EE (October 2010). "Diversity of human copy number variation and multicopy genes". Science. 330 (6004): 641–6. Bibcode:2010Sci

Myomegalin (989 words) [view diff] exact match in snippet view article find links to article

Cox M, Hopkins J, Pollack JR, Sikela JM (September 2007). "Gene copy number variation spanning 60 million years of human and primate evolution". Genome

Center for Applied Genomics (1,248 words) [view diff] exact match in snippet view article find links to article

Glessner JT, Wang K, Cai G, et al. (May 2009). "Autism genome-wide copy number variation reveals ubiquitin and neuronal genes". Nature. 459 (7246): 569–73

Psoralen (2,592 words) [view diff] exact match in snippet view article find links to article

in Saccharomyces cerevisiae: defects in DNA repair increase gene copy number variation". DNA Repair (Amst.). 21: 87–96. doi:10.1016/j.dnarep.2014.05.011

DEFB106A (619 words) [view diff] exact match in snippet view article find links to article

PMID 12734011. Hollox EJ, Armour JA, Barber JC (2003). "Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster". Am. J. Hum. Genet

DPP10 (802 words) [view diff] no match in snippet view article find links to article

EE (February 2013). "Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder". Am. J. Hum. Genet. 92

PDPR (559 words) [view diff] exact match in snippet view article find links to article

S, Hu L, Kong X (August 2010). "Novel association strategy with copy number variation for identifying new risk Loci of human diseases". PLOS ONE. 5 (8):

John Marioni (482 words) [view diff] exact match in snippet view article find links to article

of Chicago University of Cambridge Thesis Statistical methods for arrayCGH and copy number variation experiments (2007) Doctoral advisor Simon Tavaré

DEFA4 (927 words) [view diff] exact match in snippet view article find links to article

Segat L, Arraes LC, Garzino-Demo A, Crovella S (March 2009). "Copy number variation of defensin genes and HIV infection in Brazilian children". Journal

TNNI3K (633 words) [view diff] exact match in snippet view article find links to article

Chen S, Hu L, Kong X (2010). "Novel association strategy with copy number variation for identifying new risk Loci of human diseases". PLOS ONE. 5 (8):

ARHGAP11B (789 words) [view diff] exact match in snippet view article find links to article

Malig M, Tsalenko A, et al. (October 2010). "Diversity of human copy number variation and multicopy genes". Science. 330 (6004): 641–646. Bibcode:2010Sci

Plasmid (6,299 words) [view diff] exact match in snippet view article find links to article

Wang H (May 2024). "Three concurrent mechanisms generate gene copy number variation and transient antibiotic heteroresistance". Nature Communications

Neuregulin 3 (2,559 words) [view diff] exact match in snippet view article find links to article

"Faculty of 1000 evaluation for Functional impact of global rare copy number variation in autism spectrum disorders". doi:10.3410/f.3862963.3600063. {{cite

List of biological databases (2,838 words) [view diff] exact match in snippet view article find links to article

using high-throughput techniques such as gene expression profiling, copy number variation profiling, SNP genotyping, genome-wide DNA methylation profiling

DDX53 (874 words) [view diff] exact match in snippet view article find links to article

Sutcliffe JS, Betancur C (2010). "Functional impact of global rare copy number variation in autism spectrum disorders". Nature. 466 (7304): 368–72. Bibcode:2010Natur

LIMS2 (478 words) [view diff] exact match in snippet view article find links to article

Kim NK, Yang WI, Chung HC (2015). "PINCH-2 presents functional copy number variation and suppresses migration of colon cancer cells by paracrine activity"

Transfer RNA (8,010 words) [view diff] exact match in snippet view article find links to article

Esteban; Rackham, Oliver; Filipovska, Aleksandra (18 April 2023). "Copy number variation in tRNA isodecoder genes impairs mammalian development and balanced

LHFPL3 (gene) (319 words) [view diff] exact match in snippet view article

Bailey AJ, Monaco AP (2010). "High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4

Y chromosome (8,152 words) [view diff] exact match in snippet view article find links to article

PMID 29454353. Veerappa AM, Padakannaya P, Ramachandra NB (August 2013). "Copy number variation-based polymorphism in a new pseudoautosomal region 3 (PAR3) of a

C-C motif chemokine ligand 3 like 3 (218 words) [view diff] exact match in snippet view article find links to article

zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility. GRCh38:

SH2B3 (1,921 words) [view diff] exact match in snippet view article find links to article

genome-wide association studies of single nucleotide polymorphisms, copy number variation surveys, and mutation screenings found the human chromosomal 12q24

Heteroresistance (534 words) [view diff] exact match in snippet view article find links to article

Helen (2024-05-10). "Three concurrent mechanisms generate gene copy number variation and transient antibiotic heteroresistance". Nature Communications

Jan Schouten (geneticist) (803 words) [view diff] exact match in snippet view article

invented MLPA, a method for genetic testing. The method detects copy number variation in genes or parts of genes, an important cause for hereditary disorders

Lupus (14,819 words) [view diff] exact match in snippet view article find links to article

Grecco M, et al. (August 2019). "Impact of C4, C4A and C4B gene copy number variation in the susceptibility, phenotype and progression of systemic lupus

Louise Wain (743 words) [view diff] exact match in snippet view article find links to article

Louise V; Armour, John AL; Tobin, Martin D (2009-07-25). "Genomic copy number variation, human health, and disease" (PDF). The Lancet. 374 (9686): 340–350

Xp11.2 duplication (3,270 words) [view diff] exact match in snippet view article find links to article

400 individuals with isolated or syndromic mental retardation for copy number variation, Giorda et al. (2009) identified 8 (0.33%) unrelated individuals

Somatic evolution in cancer (9,913 words) [view diff] exact match in snippet view article find links to article

Microsatellite shifts and instability, loss of heterozygosity (LOH), Copy number variation (detected both by comparative genomic hybridization (CGH), and array

GNLY (2,326 words) [view diff] exact match in snippet view article find links to article

Lawhon SD, Skow LC, et al. (December 2015). "Bovine NK-lysin: Copy number variation and functional diversification". Proceedings of the National Academy

Andreas Buja (693 words) [view diff] exact match in snippet view article find links to article

Association, 89, 1255–1270 (1994). “Rare de novo and transmitted copy number variation in autistic spectrum disorders,” Levy, D., Ronemus, M., Yamrom,

Brett Abrahams (1,138 words) [view diff] exact match in snippet view article find links to article

J. S. Sutcliffe, C. Betancur, Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466, 368 (Jul 15, 2010). Geschwind

Elective genetic and genomic testing (5,081 words) [view diff] exact match in snippet view article find links to article

genome for larger deletions or duplications (also referred to as copy number variation). This technology can not detect single letter changes or very small

Tasmanian devil (13,828 words) [view diff] exact match in snippet view article find links to article

Jolanta; Cheng, Yuanyuan; Jones, Menna; et al. (2010). "MHC gene copy number variation in Tasmanian devils: Implications for the spread of a contagious

ENCODE (6,676 words) [view diff] exact match in snippet view article find links to article

replacement Chromatin structure DNA replication initiation and timing Copy number variation. modERN, short for the model organism encyclopedia of regulatory

Organisms at high altitude (5,509 words) [view diff] exact match in snippet view article find links to article

Zhang, YB; Li; Zhang; Wang; Yu (2012). "A preliminary study of copy number variation in Tibetans". PLOS ONE. 7 (7): e41768. Bibcode:2012PLoSO...741768Z

Genome instability (4,560 words) [view diff] exact match in snippet view article find links to article

information of the n and n+1 repeat is virtually the same, leading to copy number variation. For example, the 16th copy of CGG might be mapped to the 13th copy

Chromosome conformation capture (5,404 words) [view diff] exact match in snippet view article find links to article

detection and characterisation of chromosomal rearrangements and copy number variation in human tumours". Genome Biology. 18 (1): 125. doi:10.1186/s13059-017-1253-8

Burnside–Butler syndrome (640 words) [view diff] exact match in snippet view article find links to article

Schuurs-Hoeijmakers, Janneke H. (October 2014). "Refining analyses of copy number variation identifies specific genes associated with developmental delay".

Dual inheritance theory (8,209 words) [view diff] exact match in snippet view article find links to article

C (October 2007). "Diet and the evolution of human amylase gene copy number variation". Nature Genetics. 39 (10): 1256–1260. doi:10.1038/ng2123. PMC 2377015

Magnesium transporter1 family (758 words) [view diff] no match in snippet view article find links to article

has been shown to be beneficial. Similarly, the identification of copy-number variation leading to dysfunctional MAGT1 in a family with atypical ATR-X syndrome

Dendrocyte expressed seven transmembrane protein (575 words) [view diff] exact match in snippet view article find links to article

Kim HY, Cho S, Yu J, Sung S, Kim H (August 2010). "Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic

Manuel Corpas (scientist) (1,481 words) [view diff] case mismatch in snippet view article

development of integration and visualisation tools for interpretation of Copy Number Variation datasets. A while later, he started his work in the ‘Corpasome’

Andrew Singleton (1,019 words) [view diff] no match in snippet view article find links to article

Zachary A.; Degnan, James H.; et al. (2008). "Genotype, haplotype and copy-number variation in worldwide human populations" (PDF). Nature. 451 (7181): 998–1003

Cryptic plasmids (289 words) [view diff] exact match in snippet view article find links to article

Wang H (2024-05-10). "Three concurrent mechanisms generate gene copy number variation and transient antibiotic heteroresistance". Nature Communications

Intelectin (2,284 words) [view diff] exact match in snippet view article find links to article

Knight PA, Whitelaw CB, Pemberton AD (2011). "Strain-specific copy number variation in the intelectin locus on the 129 mouse chromosome 1". BMC Genomics

BAG3 (3,610 words) [view diff] exact match in snippet view article find links to article

Nickerson DA, Hershberger RE (Mar 2011). "Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of

STIL (2,251 words) [view diff] exact match in snippet view article find links to article

identified to have STIL disorders, which have fueled carcinogenesis. Copy number variation, mutation, and DNA methylation all had an impact on STIL's dysregulated

STIL (2,251 words) [view diff] exact match in snippet view article find links to article

identified to have STIL disorders, which have fueled carcinogenesis. Copy number variation, mutation, and DNA methylation all had an impact on STIL's dysregulated

Devil facial tumour disease (5,977 words) [view diff] exact match in snippet view article find links to article

HV, Marzec J, Cheng Y, Jones M, Belov K (July 2010). "MHC gene copy number variation in Tasmanian devils: implications for the spread of a contagious

Isodicentric 15 (2,370 words) [view diff] exact match in snippet view article find links to article

CGH can be used to determine the gene content and magnitude of copy number variation so that the clinical picture can be foreseen. Interstitial duplications

Humanized mouse (3,633 words) [view diff] exact match in snippet view article find links to article

(2012). "Animal models of psychiatric disorders that reflect human copy number variation". Neural Plasticity. 2012: 589524. doi:10.1155/2012/589524. PMC 3414062

Quantitative genetics (21,655 words) [view diff] exact match in snippet view article find links to article

Plassais, J; Juan, D; Ostrander, EA; Marques-Bonet, T (May 2021). "Copy number variation underlies complex phenotypes in domestic dog breeds and other canids"

DNA database (7,121 words) [view diff] no match in snippet view article find links to article

ajhg.2007.12.011. Epub 2008 Feb 14. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.

Emmanouil Dermitzakis (1,831 words) [view diff] exact match in snippet view article find links to article

Tyler-Smith, Chris (2007-02-09). "Relative impact of nucleotide and copy number variation on gene expression phenotypes". Science. 315 (5813): 848–853. Bibcode:2007Sci

C16orf82 (2,001 words) [view diff] exact match in snippet view article find links to article

Schizophrenia through a genome-wide association study and autism based on copy number variation analysis. Currently, research has not shown if C16orf82 plays any

Ultraconserved element (4,445 words) [view diff] exact match in snippet view article find links to article

hepatocellular carcinoma cells. Indeed, UCEs are often affected by copy number variation in cancer cells much more than in healthy contexts, suggesting that

Evolution of olfaction (5,762 words) [view diff] exact match in snippet view article find links to article

7122-7127. Nozawa M, Kawahara Y, Nei M. (2007). "Genomic drift and copy number variation of sensory receptor genes in humans". Proceedings of the National

High-altitude adaptation in humans (5,651 words) [view diff] exact match in snippet view article find links to article

YB, Li X, Zhang F, Wang DM, Yu J (2012). "A preliminary study of copy number variation in Tibetans". PLOS ONE. 7 (7): e41768. Bibcode:2012PLoSO...741768Z

16p11.2 deletion syndrome (1,064 words) [view diff] exact match in snippet view article find links to article

2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome". European Journal of Human Genetics. 28 (9): 1196–1204

Facioscapulohumeral muscular dystrophy (16,456 words) [view diff] exact match in snippet view article find links to article

DS, Casa C, Bodega B, et al. (May 11, 2012). "A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy"

Henry Heng (1,665 words) [view diff] exact match in snippet view article find links to article

extensively used for gene cloning, physical mapping, DNA replication, copy number variation (CNV), and genome structure studies. Heng, Henry (2019). Genome

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (20,588 words) [view diff] exact match in snippet view article find links to article

G, Doleschall M (2013). "Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene". Genome Biol Evol. 5 (1):

Epigenetic therapy (5,831 words) [view diff] exact match in snippet view article find links to article

resolution at the gene level. One issue that possibly leads to autism is copy number variation in a gene the most studied of which is the 15q multiplication from

Phenol sulfur transferase deficiency (2,695 words) [view diff] exact match in snippet view article find links to article

Snyder NW, Hebbring SJ (November 2017). "Relationship of SULT1A1 copy number variation with estrogen metabolism and human health". The Journal of Steroid

Haptoglobin-related protein (1,609 words) [view diff] exact match in snippet view article find links to article

(2014). "Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis". Human Genetics. 133 (1):

List of sequenced plant genomes (10,364 words) [view diff] case mismatch in snippet view article find links to article

Reduction Uncovers a Large Dispensable Genome and Adaptive Role for Copy Number Variation in Asexually Propagated Solanum tuberosum". The Plant Cell. 28 (2):

List of Korean Nobel laureates and nominees (1,953 words) [view diff] exact match in snippet view article find links to article

Wigler "for their contributions to the discovery of large-scale copy number variation and its association with specific diseases." According to the Nobel

Childhood-onset systemic lupus erythematosus (10,298 words) [view diff] exact match in snippet view article find links to article

Silva NP, Andrade LE (August 2019). "Impact of C4, C4A and C4B gene copy number variation in the susceptibility, phenotype and progression of systemic lupus