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e read with great interest the recent review presented by de ouza Pacheco and Goncalves,1 and we would like to briefly eport our experience with Klotho (KL) single nucleotide polyorphisms (SNPs) and sickle cell disease (SCD). SCD presents a phenotypic heterogeneity that has not een fully elucidated yet. Genetic modifiers and environmenal effects may account for the different clinical outcomes bserved. Some genetic modulators of SCD are well known, owever, they do not explain all the phenotypic variations.2,3 Genetic association studies have tried to elucidate this varibility by evaluating SNPs in genes other than the beta globin ene. However, these data still need to be validated.2–4 Association between KL SNPs and clinical manifestations f SCD have been observed, especially related with priapism nd leg ulcers.5–9 Despite the existence of some data about his topic, these associations have not been confirmed worldide. Thus, we aimed to study KL SNPs in 109 steady state CD patients, 74 (68%) with SCA, 10 (9%) with Hemoglobin (Hb) /beta-thalassemia, and 25 (23%) with Hb SC. The mean age as 32.6 ± 11.3 years with predominance of females (62.3%). he patients were followed in the Outpatient Clinics of the scola Paulista de Medicina, Universidade Federal de São aulo (UNIFESP), Brazil. The Institutional Ethics Committee pproved this study and informed consent was obtained. We tudied the correlation between the rs211234 and rs2249358 NPs and priapism9; and between rs516306 and rs685417 nd leg ulcers.8 The DNA was obtained from peripheral lood leukocytes using a standard kit (QIAamp DNA minikit, IAGEN). The rs2249358 and rs516306 SNPs were identified y polymerase chain reaction (PCR) followed by digestion ith restriction enzymes (RFLP), as described before.8,9 The s2111234 and rs685417 SNPs were identified by the allelepecific oligonucleotide-PCR (ASO-PCR) method. Statistical nalysis was performed using GraphPad Prism® (San Diego, A, USA); and differences with a p-value < 0.05 were considred statistically significant. Of the 41 male patients in this study, fourteen (34%) had history of priapism, 11 with SCA and 3 with Hb SC. The es

Klotho gene polymorphisms and their association with sickle cell disease phenotypes