Rs4242382

From Variome.net
항목 한글 영문
ID rs4242382
염색체 chr8
염색체상 위치 128517573
표준게놈 유전형 A
위험 유전형 A
변이 종류   intergenic_variant
유전자 CASC8,LOC105375754 CASC8,LOC105375754
인족별 분포  
관련 표현형 전립선암 Prostate cancer
설명

rs4242382는 8q24 염색체의 "region 1"영역에 4 개의 강하게 연관된 SNP 중 하나이며, 이 부분은 몇몇 연구에서 전립선암과 rs1447295의 시작부분이 연관되어있다고 밝혀졌다. 

1,563명의 유럽혈통 환자를 대상으로 한 연구에서 유전자좌1의 위험 유전자형과 관련된 전립선 암의 교차비는 1.70 (CI: 1.39-2.07)으로 보고되었다. 염색체 8q24의 2 개의 다른 영역 또한 연구되었다.

rs4242382 is one of 4 tightly linked SNPs in the "locus 1" region of 8q24 chromosomal region, which has been linked in several studies to prostate cancer, initially through rs1447295.[PMID 17925536]

In a study of 1,563 patients of European ancestry, the odds ratio for prostate cancer associated with risk genotypes of locus 1 were reported as 1.70 (CI: 1.39-2.07). Two other regions of chromosome 8q24 were also studied.[PMID 17925536]

관련 논문  

[PMID 19366831OA-icon.png] Genotyping 13 SNPs (including this one) in 1,308 Caucasian prostate cancer patients led to the conclusion that while none of the SNP associations were as significant as having a first-degree family history of the disease, they did replicate. In fact, for rs4242382, the risk estimate varied by family history.

[PMID 19767755OA-icon.png] A joint-odds analysis indicates that rs4242382(A;A) individuals have increased prostate cancer odds of 3.15x or 1.77x if they are also carrying 2 or 1 rs620861(C) alleles, respectively.

[PMID 20978189OA-icon.png] A study of 776 prostate cancer cases and 1,444 controls concluded that pesticides, in particular the organophosphate insecticide fonofos, significantly increased disease risk to rs4242382 carriers. The per allele odd ratio for non-exposed SNP carriers of 1.17 (CI: 0.93-1.48) increased to an odds ratio of 1.30 (CI: 0.75-2.27) upon low exposure, and to 4.46 (CI: 2.17-9.17; P-interaction=0.002) upon high exposure. Similar increases were seen for three other organophosphate insecticides (coumaphos, terbufos, and phorate) and one pyrethroid insecticide (permethrin).

[PMID 19366831OA-icon.png] Genotyping 13 SNPs (including this one) in 1,308 Caucasian prostate cancer patients led to the conclusion that while none of the SNP associations were as significant as having a first-degree family history of the disease, they did replicate. In fact, for rs4242382, the risk estimate varied by family history.

[PMID 19767755OA-icon.png] A joint-odds analysis indicates that rs4242382(A;A) individuals have increased prostate cancer odds of 3.15x or 1.77x if they are also carrying 2 or 1 rs620861(C) alleles, respectively.

[PMID 20978189OA-icon.png] A study of 776 prostate cancer cases and 1,444 controls concluded that pesticides, in particular the organophosphate insecticide fonofos, significantly increased disease risk to rs4242382 carriers. The per allele odd ratio for non-exposed SNP carriers of 1.17 (CI: 0.93-1.48) increased to an odds ratio of 1.30 (CI: 0.75-2.27) upon low exposure, and to 4.46 (CI: 2.17-9.17; P-interaction=0.002) upon high exposure. Similar increases were seen for three other organophosphate insecticides (coumaphos, terbufos, and phorate) and one pyrethroid insecticide (permethrin).

[PMID 18704501OA-icon.png] Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.

[PMID 19567509OA-icon.png] Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.

[PMID 19931040OA-icon.png] Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.

[PMID 20039378OA-icon.png] Estimation of genotype relative risks from pedigree data by retrospective likelihoods.

[PMID 20450899] Individual and cumulative association of prostate cancer susceptibility variants with clinicopathologic characteristics of the disease.

[PMID 20584312OA-icon.png] 8q24 sequence variants in relation to prostate cancer risk among men of African descent: a case-control study.

[PMID 20690139] Meta-analysis of genome-wide and replication association studies on prostate cancer.

[PMID 21343373OA-icon.png] Prostate cancer predisposition loci and risk of metastatic disease and prostate cancer recurrence.

[PMID 21390317OA-icon.png] Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3.

[PMID 23532531] Common Variants at 8q24 are Associated with Prostate Cancer Risk in Serbian Population

[PMID 23935004OA-icon.png] Pleiotropic effects of genetic risk variants for other cancers on colorectal cancer risk: PAGE, GECCO and CCFR consortia

[PMID 25683204] Prostate cancer screening using risk stratification based on a multi-state model of genetic variants

비고 표준게놈은 hg19 기준입니다.