{{Rsnum
|rsid=1042838
|Gene=PGR
|Chromosome=11
|position=101062681
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=T
|GMAF=0.09504
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=PGR
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 65.5 | 29.2 | 5.3
| HCB | 97.8 | 2.2 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 96.5 | 3.5 | 0.0
| CHB | 97.8 | 2.2 | 0.0
| CHD | 98.2 | 1.8 | 0.0
| GIH | 87.1 | 12.9 | 0.0
| LWK | 99.1 | 0.9 | 0.0
| MEX | 70.7 | 25.9 | 3.4
| MKK | 92.3 | 7.7 | 0.0
| TSI | 66.7 | 29.4 | 3.9
| HapMapRevision=28
}}
Minor [[allele]] (T) of this [[SNP]] uniquely identifies what is known as the [[PROGINS]] [[allele]] in the progresterone receptor gene [[PGR]].

Two [[SNP]]'s tagging a partial [[haplotype]] of the [[PGR]] gene were associated with an increased risk of [[ovarian cancer]] among [[homozygous]] carriers as compared with noncarriers: [[rs1042838]] ([[PROGINS]] allele; odds ratio [OR] = 3.23, 95% confidence interval [CI] = 1.19 to 8.75, P = .022) and [[rs608995]] (minor allele; OR = 3.10, 95% CI = 1.63 to 5.89, P<.001). The study suggest the effect is likely entirely due to [[rs608995]], whose minor allele was almost always seen with [[PROGINS]] allele. For [[rs1042838]], the risk allele in orientation to the corresponding dbSNP entry is (T). Subsequent studies have not replicated this high odds ratio, nor the apparent recessive model in this study. The small number of homozygous carriers in the study probably explains this outlier. {{PMID|15632380}}

A 2010 study {{PMID|21148628|OA=1
}} of 2888 cases and 4483 controls could not reproduce the association of this [[SNP]] with [[ovarian cancer]], even adjusting for ethnicity and BMI. The study concludes their sample size had >90% power to detect OR 1.3 for this [[SNP]], so if an effect exists it must be quite small. A pooled analysis of 4788 ovarian cancer cases and 7614 controls in 2008 suggested that [[PROGINS]] risk is limited to invasive endometrioid subtype {{PMID|18219286|OA=1
}}, to that effect a 2010 study found association with [[endometrial cancer]] {{PMID|20547493|OA=1
}} with same risk haplotypes as the earlier haplotype study on [[ovarian cancer]]. A 2014 metastudy {{PMID|24197980}} however did find association between [[PROGINS]] and ovarian cancer, but statistically significant only for Caucasians, those having never used oral contraceptives, and serous (endometrial) cancers, while another meta-study {{PMID|24943061}} looking at endometrial cancer specifically found association (OR 1.52-2.72, p = 0.0008-0.03) among European women in particular.

This SNP has also been reported to be associated with migraine-associated vertigo (p = 0.0007). SNPs in genes involved in female hormonal pathways have been a subject of particular interest in the study of [[migraines]] because females appear to be more prone to [[migraines]] than males. {{PMID|17609999}}

Previous studies had suggested that the minor allele of this SNP might also influence breast cancer. However, a 2009 European study of 30,000 breast cancer cases, compared to 30,000 controls, found no association, or as they put it, "persuasive evidence against an overall association between invasive breast cancer risk and (this SNP)".{{PMID|19423537|OA=1
}}


{{PMID|24943061}} Association of the progesterone receptor gene polymorphism (PROGINS) with endometriosis: a meta-analysis.

{{PMID|24197980}} Progesterone receptor PROGINS and +331G/A polymorphisms confer susceptibility to ovarian cancer: a meta-analysis based on 17 studies.

{{PMID Auto GWAS
|PMID=15632380
|Trait=Ovarian cancer
|Title=Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis.
|RiskAllele=T
|Pval=0.022
|OR=3.23
|ORtxt=[1.19-8.75] homozygous
}}

{{PMID Auto GWAS
|PMID=15632380
|Trait=Ovarian cancer
|Title=Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis.
|RiskAllele=T
|Pval=0.32
|OR=1.19
|ORtxt=[0.85-1.68] heterozygous
}}

{{PMID Auto
|PMID=16614108
|Title=Association of the progesterone receptor gene with breast cancer risk: a single-nucleotide polymorphism tagging approach.
}}

{{PMID Auto
|PMID=17592773
|Title=Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies.
}}

{{PMID|17609999}} Association of progesterone receptor with migraine-associated vertigo

{{PMID Auto GWAS
|PMID=18219286
|Trait=Ovarian cancer
|Title=Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the Ovarian Cancer Association Consortium pooled analysis.
|RiskAllele=T
|Pval=0.036
|OR=1.17
|ORtxt=[1.01–1.36] per allele
|OA=1
}}

{{PMID Auto
|PMID=18628428
|Title=Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=18805939
|Title=Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
|OA=1
}}

{{PMID Auto
|PMID=19124506
|Title=Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=19152063
|Title=Polymorphisms in estrogen metabolism and estrogen pathway genes and the risk of miscarriage.
}}

{{PMID Auto
|PMID=19382201
|Title=Association of the progesterone receptor gene with endometrial cancer risk in a Chinese population.
|OA=1
}}

{{PMID|19423537|OA=1
}} Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium.

{{PMID Auto GWAS
|PMID=19543528
|Trait=Ovarian cancer
|Title=Association between common germline genetic variation in 94 candidate genes or regions and risks of invasive epithelial ovarian cancer.
|RiskAllele=T
|Pval=0.0215
|OR=1.09
|ORtxt=[0.73-1.64]
|OA=1
}}

{{PMID Auto
|PMID=19673915
|Title=Role of the oestrogen receptor (ESR1 PvuII and ESR1 325 C--&gt;G) and progesterone receptor (PROGINS) polymorphisms in genetic susceptibility to migraine in a North Indian population
}}

{{PMID Auto GWAS
|PMID=20547493
|Trait=Endometrial cancer
|Title=Genetic variation in the progesterone receptor gene and risk of endometrial cancer: a haplotype-based approach.
|RiskAllele=T
|Pval=0.073
|OR=1.25
|ORtxt=[0.98-1.59]
|OA=1
}}

{{PMID Auto
|PMID=20814185
|Title=Associations of Progesterone Receptor Polymorphisms with Age at Menarche and Menstrual Cycle Length
|OA=1
}}

{{PMID Auto
|PMID=21086036
|Title=Association of progesterone receptor polymorphism with idiopathic recurrent pregnancy loss in Taiwanese Han population
|OA=1
}}

{{PMID Auto
|PMID=21148628
|Title=Progesterone receptor gene variants and risk of endometrial cancer
|OA=1
}}

{{PMID Auto GWAS
|PMID=22633539
|Trait=Ovarian cancer
|Title=Selected polymorphisms in sex hormone-related genes, circulating sex hormones and risk of endometrial cancer.
|RiskAllele=T
|Pval=0.09
|OR=1.25
|ORtxt=[0.96-1.61]
|OA=1
}}

{{PMID Auto
|PMID=23903878
|Title=Prenatal methylmercury exposure and genetic predisposition to cognitive deficit at age 8 years
}}

{{GET Evidence
|gene=PGR
|aa_change=Val660Leu
|aa_change_short=V660L
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1042838
|overall_frequency_n=1259
|overall_frequency_d=10758
|overall_frequency=0.117029
|n_genomes=8
|n_genomes_annotated=0
|n_haplomes=9
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.001
|nblosum100=0
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}