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Autosomal Dominant Polycystic Kidney Disease (ADPKD) accounts for 2.6% of the
patients with Chronic Kidney Disease in India. The disease is caused by pathogenic
sequence variants in either PKD1 or PKD2 gene. The primary aim of the present
study was to evaluate PKD1 and PKD2 genes to identify the disease causing variants
in patients of ADPKD. A significant phenotypic variability is observed in patients of
ADPKD with respect to progression of the disease. Genetic modifying factors are
reported to be associated with this variability and thus, identification of these factors
could inform about targets for intervention. Given this, an attempt was made to
investigate the role of Glu298Asp (c.894G>T) polymorphism of NOS3 gene and two
promoter polymorphisms (-2578C>A and -1154G>A) of VEGF gene in progression
of disease in ADPKD patients.
PKD1 and PKD2 variants were analyzed by direct gene sequencing and/or multiplex
ligation-dependent probe amplification (MLPA) in 125 unrelated patients of ADPKD.
The pathogenic potential of the variants was evaluated computationally using multiple
in silico web based prediction tools and by segregation analysis. NOS3 and VEGF
gene polymorphisms were genotyped in 123 patients of ADPKD and 100 healthy
controls. Genotyping was carried out using the amplification refractory mutationspecific
polymerase chain reaction (ARMS-PCR) for NOS3 and restriction fragment
length polymorphism (RFLP) for VEGF gene polymorphisms. Comparison of allele,
genotype and haplotype frequencies between groups was done by using Chi-Square
(?2) test or Fisher's exact test.
