CHROMOSOME 7 IKZF1 7p12.2 GENE VIEW IKZF1 · 7p12.2 7p13 7p11 rs11978267 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs11978267 A / C · IKZF1 · 7p12.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs11978267

Gene: IKZF1 — IKAROS Family Zinc Finger 1 Chr 7:50398606 7p12.2 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.748954G 0.251046AA 0.564516AG/GA 0.368878GG 0.066607pop=569,582
African A 0.82312G 0.17688AA 0.682989AG/GA 0.280258GG 0.036753pop=54,036
African American A 0.82245G 0.17755AA 0.682026AG/GA 0.280843GG 0.037131pop=52,086
African Others A 0.841G 0.159AA 0.708718AG/GA 0.264615GG 0.026667pop=1,950
Asian A 0.88835G 0.11165AA 0.789708AG/GA 0.197276GG 0.013015pop=16,596
East Asian A 0.88983G 0.11017AA 0.791033AG/GA 0.197598GG 0.011369pop=12,490
European A 0.734097G 0.265903AA 0.540534AG/GA 0.387127GG 0.072339pop=451,872
Latin American 1 A 0.7628G 0.2372AA 0.583931AG/GA 0.357826GG 0.058244pop=6,696
Latin American 2 A 0.75309G 0.24691AA 0.57003AG/GA 0.366114GG 0.063855pop=13,280
Other A 0.76971G 0.23029AA 0.598612AG/GA 0.342186GG 0.059202pop=23,344
Other Asian A 0.8838G 0.1162AA 0.785679AG/GA 0.196298GG 0.018022pop=4,106
South Asian A 0.6852G 0.3148AA 0.4843AG/GA 0.401809GG 0.11389pop=3,758

Studies14

Unread Studies14
1
PID
This meta-analysis investigates the association between acute lymphoblastic leukemia (ALL) susceptibility and IKZF1 gene SNPs. Utilizing EMBASE, PubMed, and other databases, the study evaluated methodological quality through the Newcastle-Ottawa Scale (NOS) scoring and Hardy-Weinberg Equilibrium (HWE) value. The present meta-analysis used Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) guidelines. Review Manager 5.4 software was employed for data analysis, emphasizing…
2
PID
Acute lymphoblastic leukemia (ALL) is the most common childhood cancer, and B-cell ALL (B-ALL) is the most common subtype. The understanding of ALL has advanced significantly in recent years due to genomic sequencing, which has made it possible to identify genetic variants and detect the association between "single nucleotide polymorphisms" (SNP) and certain diseases. We evaluated 126 patients diagnosed with B-ALL in hospitals in Rio de Janeiro. We described the frequency of polymorphisms in the…
3
PID
Lipid profiles are influenced by both noise and genetic variants. However, little is known about the associations of occupational noise and genetic variants with age-related changes in blood lipids, a crucial event in the initiation and evolution of atherosclerotic cardiovascular diseases. We aimed to evaluate the associations of blood lipid change rates with occupational noise and genetic variants in stress hormone biosynthesis-based genes. This cohort was established in 2012 and 2013 and was f…
4
PID
The demographic factors, the socioeconomic status and the ethnicity of populations are important players that determine the incidence, the prevalence and the spectrum of systemic lupus erythematosus (SLE) clinical presentations in different populations. Therefore, the purpose of the present research was to investigate the possible association between the Ikaros family zinc finger 1 gene (IKZF1) rs4132601 and rs11978267 single nucleotide polymorphisms (SNPs) and SLE susceptibility and clinical pr…
5
PID
IKZF1 is a relevant gene associated with the pathogenesis of acute lymphoblastic leukemia, and the rs4132601 (T&gt;G) and rs11978267 (A&gt;G) polymorphisms have been associated with the development of this disease in several populations. The aim of this study was to determine the allelic and genotypic frequencies of the rs4132601 and rs11978267 polymorphisms in two indigenous Mexican groups (Cora and Huichol) and Mestizo populations from Nayarit, Mexico, and compare them with the frequencies of…
6
PID
(IKZF1) rs4132601 and rs11978267 are common gene polymorphisms and have been associated with the risk of acute lymphoblastic leukemia. However, these associations are less evident in races and/or ethnicities other than European and Hispanic. Therefore, we investigated the association between these single-nucleotide polymorphisms and acute lymphoblastic leukemia susceptibility and disease outcome. Real-time polymerase chain reaction typing was performed for IKZF1 rs4132601 and rs11978267 for 128…
7
PID
Associations between IKZF1 gene variants and Acute Lymphoblastic Leukemia (ALL) was recently reported. We examined whether the common IKZF1 polymorphisms rs4132601 T/G and rs111978267 A/G are associated with ALL among a Tunisian pediatric cohort. This case-control study involved 170 patients with ALL and 150 control subjects. SNP genotyping was performed by TaqMan&#xae; SNP Genotyping Assay. The minor allele G of IKZF1 gene polymorphism rs4132601 T/G was significantly higher in ALL cases than in…
8
PID
SNPs in IKZF1 are associated with inherited susceptibility to B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Besides, somatic copy number abnormalities (CNA) in genes related to lymphopoiesis (e.g., IKZF1, CDKN2A/B, BTG1) impact patient's outcome. Therefore, this study aimed to investigate an association between germline susceptibility and CNAs in BCP-ALL. The IKZF1 SNPs (rs11978267 and rs4132601) were genotyped in 276 cases and 467 controls. Bone marrow samples were used to determine…
9
PID
Genome-wide and candidate gene association studies have previously revealed links between a predisposition to acute lymphoblastic leukemia (ALL) and genetic polymorphisms in the following genes: IKZF1 (7p12.2; ID: 10320), DDC (7p12.2; ID: 1644), CDKN2A (9p21.3; ID: 1029), CEBPE (14q11.2; ID: 1053), and LMO1 (11p15; ID: 4004). In this study, we aimed to conduct an investigation into the possible association between polymorphisms in these genes and ALL within a sample of Yemeni children of Arab-As…
10
PID
Genome-wide association studies (GWAS) have proved the association of IKZF1 polymorphisms with childhood acute lymphoblastic leukemia (ALL). In the present study, we aimed to inspect the impact of IKZF1 gene polymorphisms and childhood ALL in a sample of Iranian population who live in south east of Iran. This case-control study was done on 110 children diagnosed with ALL and 120 healthy children. The IKZF1 (rs4132601 T&#x2009;&gt;&#x2009;G, rs11978267 A&#x2009;&gt;&#x2009;G, rs11980379 T&#x2009;…
11
PID
Two common polymorphisms in the IKZF1 gene (rs4132601 and rs11978267 variants) have been reported to be associated with childhood acute leukemia (AL) risk, however the results were inconsistent. Here, we conducted a meta-analysis to generate large-scale evidence on whether IKZF1 variants are risk factors for childhood AL. The PubMed, Embase, EBSCO, and Web of Science were searched up to June 2, 2014 for studies on the association of IKZF1 polymorphisms with childhood AL risk. Data were extracted…
12
PID
Acute leukemia in early age (EAL) is characterized by acquired genetic alterations such as MLL rearrangements (MLL-r). The aim of this case-controlled study was to investigate whether single nucleotide polymorphisms (SNPs) of IKZF1, ARID5B, and CEBPE could be related to the onset of EAL cases (&lt;24&#xa0;months-old at diagnosis). The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid…
13
PID
Interactions between common germline variants in ARID5B and IKZF1 and other known childhood acute lymphoblastic leukemia (ALL) risk factors were queried using biospecimens and data from 770 ALL cases and 384 controls. Case-control comparisons revealed dose-dependent associations between ARID5B rs10821936, ARID5B rs10994982, and IKZF1 rs11978267 and childhood ALL overall, and B lineage and B lineage hyperdiploid ALL examined separately (all allelic odds ratios &#x2265;1.33, Ptrend&#x2264;0.001).…
14
PID
The mixed lineage leukemia (MLL) gene is commonly rearranged in infant leukemia (IL). Genetic determinants of susceptibility to IL are unknown. Recent genome-wide association studies for childhood acute lymphoblastic leukemia (ALL) have identified susceptibility loci at IKZF1, ARID5B, and CEBPE. We genotyped these loci in 171 infants with leukemia and 384 controls and evaluated associations overall, by subtype [ALL, acute myeloid leukemia (AML)], and by presence (+) or absence (-) of MLL rearran…
Curated Studies0

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Unused Studies0

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