{{Rsnum
|rsid=2395029
|Gene=HCP5
|Chromosome=6
|position=31464003
|Orientation=plus
|GMAF=0.02663
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=HCP5
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 0.0 | 11.5 | 88.5
| HCB | 0.0 | 2.9 | 97.1
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 1.8 | 98.2
| CHB | 0.0 | 2.9 | 97.1
| CHD | 0.0 | 1.9 | 98.1
| GIH | 1.0 | 31.0 | 68.0
| LWK | 0.0 | 6.4 | 93.6
| MEX | 0.0 | 5.2 | 94.8
| MKK | 1.3 | 26.3 | 72.4
| TSI | 0.0 | 5.9 | 94.1
| HapMapRevision=28
}}[[rs2395029]] is a SNP in the major histocompatibility complex (MHC) region, and several studies have shown that the [[rs2395029]](G) allele is 99.9% predictive of the presence of an HLA-B*5701 allele. This HLA allele, in turn, has been associated with several conditions.

A study of 51 cases of [[flucloxacillin]] drug-induced liver injury (DILI), an important cause of serious liver disease, along with a replication study of another 23 cases, found that the [[rs2395029]](G) carriers were at highly increased risk (odds ratio 80, p=8.7x10(-33)).{{PMID|19483685}}

* see also: [http://blog.23andme.com/2009/06/01/snpwatch-genetic-variation-in-immune-system-marker-may-increase-risk-of-liver-injury-from-common-antibiotic/ 23andMe blog] rs2395029(G;G) increases the odds of drug-induced liver injury in response to [[flucloxacillin]] by 45x

{{PMID|17641165|OA=1
}} This SNP is thought to be involved in determining the [[HIV]] viral load set point during the asymptomatic period of infection. This SNP is estimated to explain 9.6% of the total variation in the viral set point.

Humans show remarkable variation in vulnerability to infection by HIV-1 and especially in the clinical outcome following infection. One striking and largely unexplained difference is the level of circulating virus in the plasma during the non-symptomatic phase preceding progression to AIDS. This is known as the ''viral set point'' and can vary among individuals by as much as 4 to 5 logs. 

The [[HCP5]] (HLA complex P5) gene is located 100 kb centromeric from HLAB on chromosome 6.  HCP5 is a good candidate to interact with HIV-1, possibly through an antisense mechanism. Moreover, HCP5 is predicted to encode two proteins, and the associated polymorphism results in an amino acid substitution in one of these.

[[rs9264942]] is also reported to be associated with reduced HIV viral load set point.

In European populations, the [[rs2395029]](G) allele is in tight linkage disequilibrium (r2 = 1) with the [[HLA-B*5701]] allele, and therefore is predictive of hypersensitivity to the drug [[abacavir]], an antiviral used to treat HIV+ individuals.{{PMID|18684101}}

[http://www.nature.com/ng/journal/v38/n10/fig_tab/ng1885_T1.html nature] [[Abacavir]] hypersensitivity [[rs2395029]]

{{PMID|18369459|OA=1
}} [[rs2395029]] reported to be associated with [[psoriasis]] in a large US/UK study

{{PMID|24270849|OA=1
}} [[rs2395029]] was found to be associated with [[psoriasis]] based on a study by the eMERGE network in which electronic medical records were searched to find clinical associations associated with selected SNPs.

{{PMID|19115949}} [[HIV]]-1 nonprogressors (odds ratio, 3.47)

Marker [[HLA-B*5701]] hypersensitivity to the HIV drug [[abacavir]]; [http://www.fda.gov/ForConsumers/ByAudience/ForPatientAdvocates/HIVandAIDSActivities/ucm121646.htm FDA warning here]

{{omim
|desc=MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B
|id=142830
|rsnum=2395029
}}

{{PharmGKB
|RSID=rs2395029
|Name_s=
|Gene_s=HCP5
|Feature=
|Evidence=PubMed ID:16998491
|Annotation=Risk or phenotype-associated allele: allele 4. Phenotype: Tagging SNP for HLA-B*5701 (0.061 allele frequency). Study size: 182. Study population/ethnicity: Caucasians Utah residents (29 extended families with an average family size of 6.2, containing 45 unrelated parent-offspring trios) of European ancestry, from the Centre d'Etude du Polymorphisme Humain (CEPH) collection (CEU). Significance metric(s): Type of association: GN
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165291972
}}

{{PMID Auto GWAS
|PMID=20041166
|Trait=HIV-1 control
|Title=Common Genetic Variation and the Control of HIV-1 in Human
|RiskAllele=
|Pval=1E-11
|OR=NR
|ORtxt=NR
|OA=1
}}

{{omim
|desc=HLA COMPLEX P5 GENE; HCP5
|id=604676
|rsnum=2395029
}}

{{PharmGKB
|RSID=rs2395029
|Name_s=tagging SNP for HLA-B*5701
|Gene_s=HCP5
|Feature=
|Evidence=PubMed ID:11888582; PubMed ID:15247625; PubMed ID:16998491; PubMed ID:17641165; PubMed ID:18256392; PubMed ID:18536095
|Annotation=This variant is a tagging SNP for HLA-B*5701, which is associated with hypersensitivity to abacavir. This variant is also associated with low HIV viral load.
|Drugs=abacavir
|Drug Classes=
|Diseases=HIV
|Curation Level=Curated
|PharmGKB Accession ID=PA162168195
}}

{{PharmGKB
|RSID=rs2395029
|Name_s=
|Gene_s=HCP5
|Feature=
|Evidence=PubMed ID:17641165
|Annotation=In replicated GWAS, rs2395029 explained 9.6% of the total variation in viral set point in HIV-1 infected subjects.
|Drugs=
|Drug Classes=
|Diseases=HIV; HIV Infections
|Curation Level=Curated
|PharmGKB Accession ID=PA162355624
}}

{{PharmGKB
|RSID=rs2395029
|Name_s=
|Gene_s=HCP5
|Feature=
|Evidence=PubMed ID:19115949; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genomewide Association Study of an AIDS-Nonprogression Cohort Emphasizes the Role Played by HLA Genes (ANRS Genomewide Association Study 02).. (Initial Sample Size: 275 HIV positive patients, 1,438 controls; Replication Sample Size: 626 patients); (Region: 6p21.33; Reported Gene(s): HCP5, MICB, MCCD1, BAT1, LTB, TNF; Risk Allele: rs2395029-G); (p-value= 3E-19).This variant is associated with AIDS progression.
|Drugs=
|Drug Classes=
|Diseases=Acquired Immunodeficiency Syndrome
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740094
}}

{{PharmGKB
|RSID=rs2395029
|Name_s=tagging SNP for HLA-B*5701
|Gene_s=HCP5
|Feature=
|Evidence=PubMed ID:19483685
|Annotation=The G allele of this variant was significantly associated with flucloxacillin-induced liver injury in a GWAS screen of 51 cases of flucloxacillin DILI (drug-induced liver injury) and 282 controls matched for sex and ancestry (P = 8.7x10-33). The variant is in complete linkage disequilibrium (LD) with HLA-B*5701.
|Drugs=flucloxacillin
|Drug Classes=
|Diseases=Drug Toxicity; Liver Diseases
|Curation Level=Curated
|PharmGKB Accession ID=PA164889034
}}

{{PMID Auto GWAS
|PMID=21051598
|Trait=None
|Title=The Major Genetic Determinants of HIV-1 Control Affect HLA Class I Peptide Presentation
|RiskAllele=G
|Pval=1E-25
|OR=5.3000
|ORtxt=[NR]
|OA=1
}}

{{PMID Auto
|PMID=18256235
|Title=WGAViewer: software for genomic annotation of whole genome association studies.
|OA=1
}}

{{PMID Auto
|PMID=18982067
|Title=HIV-1 disease-influencing effects associated with ZNRD1, HCP5 and HLA-C alleles are attributable mainly to either HLA-A10 or HLA-B*57 alleles.
|OA=1
}}

{{PMID Auto
|PMID=19050382
|Title=Association of HLA-C and HCP5 gene regions with the clinical course of HIV-1 infection.
}}

{{PMID Auto
|PMID=19107206
|Title=Distinct genetic loci control plasma HIV-RNA and cellular HIV-DNA levels in HIV-1 infection: the ANRS Genome Wide Association 01 study.
|OA=1
}}

{{PMID Auto
|PMID=19182814
|Title=New insights into the pathogenesis and genetics of psoriatic arthritis.
|OA=1
}}

{{PMID Auto
|PMID=19276793
|Title=Host genetics and HIV-1 viral load set-point in African-Americans.
|OA=1
}}

{{PMID Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=19679225
|Title=X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women.
|OA=1
}}

{{PMID Auto
|PMID=19935381
|Title=A polymorphism in the HCP5 gene associated with HLA-B*5701 does not restrict HIV-1 in vitro.
|OA=1
}}

{{PMID Auto
|PMID=20487506
|Title=A whole genome association study of mother-to-child transmission of HIV in Malawi.
|OA=1
}}

{{PMID Auto
|PMID=20534626
|Title=Use of the HCP5 single nucleotide polymorphism to predict hypersensitivity reactions to abacavir: correlation with HLA-B*5701.
}}

{{PMID Auto
|PMID=20552027
|Title=Host and viral genetic correlates of clinical definitions of HIV-1 disease progression.
|OA=1
}}

{{PMID Auto
|PMID=21107268
|Title=Screening low-frequency SNPS from genome-wide association study reveals a new risk allele for progression to AIDS.
|OA=1
}}

{{PMID Auto
|PMID=21221856
|Title=The search for host genetic factors of HIV/AIDS pathogenesis in the post-genome era: progress to date and new avenues for discovery.
|OA=1
}}

{{PMID Auto
|PMID=21253569
|Title=Genome-wide association study SNPs in the human genome diversity project populations: does selection affect unlinked SNPs with shared trait associations?
|OA=1
}}

{{PMID Auto
|PMID=21514285
|Title=Rapid HCP5 single-nucleotide polymorphism genotyping: a simple allele-specific PCR method for prediction of hypersensitivity reaction to Abacavir.
}}

{{PMID Auto
|PMID=21854194
|Title=Distribution of polymorphisms in cytochrome P450 2B6, histocompatibility complex P5, chemokine coreceptor 5, and interleukin 28B genes in inhabitants from the central area of Argentina.
}}

{{PMID Auto
|PMID=21860345
|Title=Rising HIV-1 viral load set point at a population level coincides with a fading impact of host genetic factors on HIV-1 control.
}}

{{PMID Auto
|PMID=22474614
|Title=Host Genes Important to HIV Replication and Evolution.
|OA=1
}}

{{GET Evidence
|gene=HCP5
|aa_change=Val112Gly
|aa_change_short=V112G
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs2395029
|overall_frequency_n=2
|overall_frequency_d=128
|overall_frequency=0.015625
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=1
|n_articles_annotated=1
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|in_gwas=Y
|nblosum100=8
|max_or_disease_name=AIDS progression
|max_or_case_pos=87
|max_or_case_neg=814
|max_or_control_pos=43
|max_or_control_neg=1395
|max_or_or=3.467
|autoscore=3
|webscore=N
|summary_short=GWAS association with AIDS progression.
}}

[[HIV Progression]]

[[Abacavir Hypersensitivity]]

[[Floxacillin Toxicity]]

{{PMID Auto
|PMID=23403273
|Title=Novel genetic association of TNF-alpha-238 and PDCD1-7209 polymorphisms with long-term non-progressive HIV-1 infection.
}}

{{PMID Auto
|PMID=24861233
|Title=Development of multiplex pyrosequencing for HLA-B*57:01 screening using single nucleotide polymorphism haplotype
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}