Replication of GWAS loci revealed the moderate effect of TNRC6B locus on susceptibility of Saudi women to develop uterine leiomyomas

Replication of GWAS loci revealed the moderate effect of TNRC6B locus on susceptibility of Saudi women to develop uterine leiomyomas

Aim Uterine leiomyomas (UL) are smooth muscular nodes, whose growth is dependant up on the complex interplay of hormones with genes and uterine physiology. Global statistics indicate the role of ethnic and racial background as contributory factors for UL development. Owing to the lack of data, this...

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Published in:The journal of obstetrics and gynaecology research Vol. 43; no. 2; pp. 330 - 338
Main Authors: Bondagji, Nabeel Saleem, Morad, Fatima Amanullah, Al‐Nefaei, Afnan Abed Abdullah, Khan, Imran Ali, Elango, Ramu, Abdullah, Layla Saleh, M.Al‐Mansouri, Nisma, Sabir, Jamal, Banaganapalli, Babajan, Edris, Sherif, Shaik, Noor Ahmad
Format: Journal Article
Language:English
Published: Australia Wiley Subscription Services, Inc 01-02-2017
Subjects:
Adult
benign tumor
Cooperation
Female
fibroid
Fibroids
Gene frequency
Gene polymorphism
Genetic Loci
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Leiomyoma - genetics
Middle Aged
Nodes
Polymerase chain reaction
replication study
RNA-Binding Proteins - genetics
Saudi Arabia
Saudi women
single nucleotide polymorphism
uterine leiomyoma
Uterine Neoplasms - genetics
Uterus
Saudi women
benign tumor
fibroid
single nucleotide polymorphism
replication study
uterine leiomyoma
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Summary:Aim Uterine leiomyomas (UL) are smooth muscular nodes, whose growth is dependant up on the complex interplay of hormones with genes and uterine physiology. Global statistics indicate the role of ethnic and racial background as contributory factors for UL development. Owing to the lack of data, this study aimed to examine the association between genetic polymorphisms and susceptibility of Arab women of developing UL. Methods We genotyped 105 UL patients and 112 healthy controls for five genetic polymorphisms through real time PCR method. The strength of the association between genotype and allele frequencies with risk of developing UL was tested with their χ2 and odds ratio (OR) values. The synergistic cooperation between genetic polymorphisms was estimated through multifactor dimensionality reduction assay. Results We found that Saudi women with the AG genotype for the rs12484776 polymorphism are at a 2.6‐fold higher risk of developing UL compared to those with other genotypes (OR, 2.69; 95% confidence interval [CI]: 1.45–5.00; P < 0.001). This significance persisted even under co‐dominant models (i.e., AA vs GG + AG [OR, 2.74; 95%CI: 1.48–5.08; P = 0.001; and AG vs GG + AG [OR, 2.41; 95% CI: 1.33–4.39; P = 0.003). Genotype distribution frequencies for rs1056836, rs7913069, rs2280543, and rs4247357 were not shown to elevate the disease risk (for all tests P > 0.05). Conclusion The rs12484776 significantly contributes to UL risk among Saudi women, both in single and also in synergistic cooperation with rs2280543, rs7913069, and rs1056836 markers. Our results have yielded mixed findings in replicating European‐ and Japanese‐specific UL genetic susceptibility loci among a geographically and culturally distinct population of the Saudi Arabian Peninsula.
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ISSN:1341-8076
1447-0756
DOI:10.1111/jog.13217