Evaluation of HCP5 and Chemokine C Receptor type 5 Gene Polymorphisms in Indian Psoriatic Patients.

BACKGROUND: Genetic variations associated with nonprogression of HIV infection to AIDS are enriched in psoriasis patients. HCP5 gene 335 T > G and chemokine C receptor type 5 (CCR5) gene Δ32 polymorphisms are associated with HIV nonprogression phenotype. AIM: The aim of this study was to determine the association of HCP5 gene 335 T > G (rs2395029) and CCR5 gene Δ32 (rs333) polymorphisms with psoriasis vulgaris (PV). MATERIALS AND METHODS: Genotype of HCP5 gene 335 T > G and CCR5 gene Δ32 polymorphisms were determined by polymerase chain reaction (PCR)-restriction fragment length polymorphism and allele-specific PCR methods, respectively. RESULTS: The frequency of HCP5 gene 335 T > G SNP was ~7 times higher in PV patients than in the control group (P = 1.49 × 10-8; odds ratio [OR] = 10.2; 0.95 confidence interval [CI]: 3.9-26.8). OR for the occurrence of HCP5 335 G allele in either homozygous or heterozygous genotype in PV patients was 13.1 (0.95 CI: 4.7-36.1). The strength of association was higher with moderate-to-severe subgroup (P = 3.29 × 10-9; OR = 18.4; 0.95 CI: 6.2-54.9) than with mild subgroup (P = 2.1 × 10-4; OR = 8.3; 0.95 CI: 2.6-23.3). In addition, the strength of association was higher with Type I (P = 9.53 × 10-8; OR = 15.3; 0.95 CI: 5.1-46.5) than with Type II subgroup (P = 6.8 × 10-6; OR = 11.0; 0.95 CI: 3.6-33.9). Type I gene Δ32 polymorphism was observed neither among psoriatic nor among healthy individuals. CONCLUSIONS: Our results indicate that HCP5 gene 335 T > G polymorphism and not CCR5 gene Δ32 polymorphism is associated with the increased risk of developing PV.

Novel association of SNP rs479200 in EGLN1 gene with predisposition to preeclampsia.

OBJECTIVES: Placental hypoxia is a hallmark of preeclampsia. SNP rs479200 in the EGLN1 gene is associated with reduced responsiveness to hypoxia. Whether this translates into an association between SNP rs479200 and preeclampsia is not known. We evaluated the association of SNP rs479200 (T>C) with the risk of preeclampsia. METHODS: This case-control study involved 600 pregnant women of whom 300 were preeclamptic and 300 were normotensive. SNP rs479200 was genotyped by PCR-RFLP method. RESULT: Minor allele frequency was 44% in preeclamptic women and 53% in normotensive pregnant women (P = 1.8 × 10-3; odds ratio = 1.43). The odds ratio was heterogeneous when compared after categorization of the preeclamptic group into clinical sub-groups. The association was significant with both mild (P = 6.2 × 10-5) and severe (3.8 × 10-3) preeclampsia. However, the odds ratio was 0.52 for mild preeclampsia and 1.43 for severe preeclampsia. CONCLUSION: The minor allele of SNP rs479200 is associated with the predisposition to preeclampsia. This association underlines the importance of oxygen sensing in the pathogenesis of preeclampsia.