Dataset Information

CYP19A1 gene polymorphism and colorectal cancer etiology in Saudi population: case-control study.

ABSTRACT: BACKGROUND:Considerable interest is directed toward the enzyme aromatase (CYP19A1) and the development of cancer, due to CYP19A1's role in estrogen biosynthesis. Several cancers display excessive intra-tumor accumulation of estrogens, and aromatase inhibitors are used for treatment. The CYP19A1 gene exhibits polymorphism and mutations that can alter its expression or aromatase activity and influence estrogen production. We designed this study to investigate the link between CYP19A1 polymorphism and susceptibility to colorectal cancer (CRC) development in Saudis. PATIENTS AND METHODS:Blood samples from 100 CRC patients and 100 healthy controls were drawn for DNA extractions. Three polymorphic sites, rs4774585, rs936308, and rs4775936, were genotyped using Taqman genotyping by real-time polymerase chain reaction. Allelic and genotype frequencies were calculated and compared in the two groups. RESULTS:All single nucleotide polymorphisms (SNPs) were polymorphic in Saudis, and comparison of allele frequencies showed several differences when compared to other populations. None of the SNPs were associated with the risk of CRC development in Saudis (P>0.05). Some gender and location (colon or rectal) differences were observed. DISCUSSION:The results of this study highlighted the genetic heterogeneity existing between populations in the prevalence of different SNPs and their relation to disease state. It showed that, although rs4774585, rs936308, and rs4775936 are involved in CRC development in several populations, their role is not significant in the etiology of CRC in Saudis; however, some SNPs do increase susceptibility or resistance to CRC development as judged from the odds ratio. Further large-scale studies are warranted to clarify the role of the CYP19A1 development in CRC.

SUBMITTER: Al-Mukaynizi FB

PROVIDER: S-EPMC5604566 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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<i>CYP19A1</i> gene polymorphism and colorectal cancer etiology in Saudi population: case-control study.

Al-Mukaynizi Fatimah Basil FB Alanazi Mohammed M Al-Daihan Sooad S Parine Narasimha Reddy NR Almadi Majid M Aljebreen Abdulrahman A Azzam Nahla N Alharbi Othman O Arafah Maha M Warsy Arjumand A

OncoTargets and therapy 20170914

<h4>Background</h4>Considerable interest is directed toward the enzyme aromatase (CYP19A1) and the development of cancer, due to CYP19A1's role in estrogen biosynthesis. Several cancers display excessive intra-tumor accumulation of estrogens, and aromatase inhibitors are used for treatment. The CYP19A1 gene exhibits polymorphism and mutations that can alter its expression or aromatase activity and influence estrogen production. We designed this study to investigate the link between CYP19A1 polym ...[more]

PMID: 29066910

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Project description:Background and aimDiabetes mellitus (DM) of both types is a genetically determined disorder and is prevalent in the Saudi population. Furthermore, the rate of consanguineous marriages is also high among Saudis. Therefore, we aimed to determine the prevalence of consanguinity among people with DM and investigate the effect of consanguinity on the occurrence of diabetes at different levels.MethodsA descriptive cross-sectional study was carried out at the Obesity, Metabolism and Endocrine Center of King Fahad Medical City in Riyadh, Saudi Arabia in January 2021. Information on patients' demographics (age, gender), family history of DM, and presence of consanguinity, and degree of consanguineous marriage were collected.ResultsWe included 324 people with DM, 143 (44.1%) with type 1 diabetes (T1DM), and 181 (55.9%) with type 2 diabetes (T2DM). We included 201 people without DM for T1DM control and 300 people for T2DM control. The mean age was 26.6 ± 11.1 years for the T1DM group and 57.8 ± 11.6 years for the T2DM group. Consanguinity was noted among 73 (51.4%) T1DM patients, but T1DM was not significantly related to consanguinity. T2DM was significantly correlated with consanguinity (r=0.132, p=0.004) particularly among patients with a degree of consanguinity as first-cousins for both paternal and maternal sides (odds ratio [OR]=1.151 and 1.476). Gender and positive family history for DM and consanguineous marriage between cousins were significant factors for T2DM. After controlling for gender and a positive family history of DM, consanguineous marriage between cousins from both the paternal and maternal sides remained significant.ConclusionT2DM occurrence increases in presence of consanguinity in the Saudi population. This relationship might contribute to the higher risk of DM prevalence. Further studies are needed to elucidate this relationship deeply. It's unclear whether lowering consanguineous marriages would decrease the prevalence of diabetes or not. However, a clear message about this correlation has to be delivered to the public.

Dataset Information

CYP19A1 gene polymorphism and colorectal cancer etiology in Saudi population: case-control study.

Publications

<i>CYP19A1</i> gene polymorphism and colorectal cancer etiology in Saudi population: case-control study.

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