ClinVar Miner

Submissions for variant NM_003361.3(UMOD):c.-1746T>C

gnomAD frequency: 0.23174  dbSNP: rs13333226
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
College of Pharmacy, University of Babylon RCV000203590 SCV000256811 association Essential hypertension 2015-07-01 no assertion criteria provided case-control A case-control association study with enrolling individuals belonging to Arab ancestry from Babylon province, Iraq. The study enrolled 100 cases of well diagnosed essential hypertensive patients and 70 controls of carefully selected normotensive individuals. For genotyping, we designed and optimized ‘polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP)’ and ‘polymerase chain reaction amplification of multiple specific alleles (PAMSA)’ methods, and each sample was genotyped by the two methods to ensure precise genotyping. Concerning UMOD rs13333226, the results showed that allele A conferred an additional risk for essential hypertension with odds ratio 1.75 (C.I.1.03-2.96) (P =0.035), while the G allele represents a protective allele conferring a lesser susceptibility for hypertension (OR = 0.57, C.I. 0.33-0.96). The genotypic association under different inheritance models showed that the A allele was inherited as a recessive risk allele, the GG+AG to AA odd ratio equal to 2.17 (C.I. 1.14-4.11)( P = 0.022). When the association was tested in each gender, the association and odds ratio increased further in the males, in which the A allele recorded with an odds ratio of 3.28 (C.I. 1.43-7.50 ) and P value of 0.0035, while the females did not record any significant association. We concluded that the rs13333226 variant of the UMOD gene represents a genetic factor that can modulate the susceptibility to develop essential hypertension in males from Arab ancestry of Babylon province.

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