OBJECTIVE: @entity102 ( @entity102 ) is the most common @entity455 , progressing in approximately 10% of cases toward chronic venous leg @entity1066 , whereas the @entity9595 gene ( @entity14398 ) @entity14399 mutation is the most common recognized genetic defect in @entity68 metabolism. Because @entity102 leads to local @entity68 overload in the affected legs, we investigated whether two common @entity14398 mutations could increase the risk of chronic venous leg @entity1066 . METHODS: This was a case-control study at the @entity455 Center, University of Ferrara, Italy. From a cohort of 980 consecutive @entity1 affected by severe @entity102 (CEAP clinical classes C4 to C6) we selected 238 cases with the exclusion of any other comorbidity factor potentially involved in wound etiology (group A). They were subdivided into group B, including 137 @entity1 with @entity1066 (classes C5 and C6: 98 primary and 39 postthrombotic cases), and group C, including 101 cases with no @entity272 (class C4). They were completely matched for sex, age, and geographic origin with 280 healthy controls (group D). A total of 518 subjects were polymerase chain reaction genotyped for @entity14398 mutations ( @entity14399 and @entity14397 ). We assessed the risk of @entity1066 by comparing the prevalence of @entity1066 in homogenous cases with and without the @entity14398 variants. Other main outcome measures were the sensitivity, specificity, and predictive values of the genetic test in @entity102 cases. RESULTS: @entity14399 mutation significantly increases the risk of @entity1066 in primary @entity102 by almost seven times (odds ratio, 6.69; 95% confidence interval, 1.45-30.8; P = .01). Application of the @entity14398 test in primary @entity102 demonstrated increased specificity and positive predictive values (98% and 86%, respectively), with negligible sensitivity and negative predictive values. CONCLUSIONS: The overlap of primary @entity102 and the @entity14399 mutation consistently increases the risk of developing venous leg @entity1066 . These data, which have been confirmed in other clinical settings, suggest new strategies for preventing and treating primary @entity102 . CLINICAL RELEVANCE: The number of @entity1 affected by primary @entity102 is so great that the vast majority of @entity1066 are also related to this common problem. On the other hand, there is not a reliable way for identifying in advance, from the broad base of primary @entity102 @entity1 (20-40% of the general population), the high risk minority (10% of primary @entity102 cases) who will develop a @entity3179 . In such cases, a simple @entity14399 blood genetic test demonstrated an elevated specificity in predicting @entity1066 development (98%, CI 95%, 92.8-99.7). The genetic test could be applied starting from the C2 class, varicose veins, the most common situation observed in clinical practice. In perspective, the presence of the @entity14399 mutation would strengthen the indications and priorities for surgical correction of superficial @entity4096 .

XXXX @entity14399 gene mutation increases the risk of venous leg @entity1066 .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity14398 :: ('3077', 'Gene') :: ['HFE'] @entity455 :: ('MESH:D014652', 'Disease') :: ['Vascular Diseases', 'vascular disorder'] @entity68 :: ('MESH:D007501', 'Chemical') :: ['iron'] @entity1066 :: ('MESH:D014456', 'Disease') :: ['ulcer', 'ulcers', 'ulceration'] @entity102 :: ('MESH:D002908', 'Disease') :: ['Chronic venous disease', 'CVD'] @entity3179 :: ('MESH:D014647', 'Disease') :: ['venous ulcer'] @entity14399 :: ('p|SUB|C|282|Y', 'ProteinMutation') :: ['C282Y'] @entity14397 :: ('p|SUB|H|63|D', 'ProteinMutation') :: ['H63D'] @entity272 :: ('MESH:D012871', 'Disease') :: ['skin lesions'] @entity4096 :: ('MESH:D014689', 'Disease') :: ['venous insufficiency'] @entity9595 :: ('MESH:D006432', 'Disease') :: ['hemochromatosis']
@entity9595 :: (MESH:D006432,Disease) :: ['Hemochromatosis']
