Abstract:

Objective  To explore the potential association between the heparan sulfate proteoglycan gene (HSPG) polymorphism and genetic susceptibility to calciumoxalate nephrolithiasis in the Chinese Han population.  Methods  143 patients diagnosed with calcium oxalate urolithiasis were enrolled in this study. In addition, 157 ago-matched healthy controls were enrolled. Genomic DNA was extracted from blood samples. Based on a case-control study, HSPG polymorphism (rs3767140)was determined by polymerase chain reaction and restriction fraction length polymorphism(PCR-RFLP) with BamHⅠ digestion. Results  Distribution frequencies of site rs3767140 genotype and alleles in the two groups followed the Hardy-Weinberg equilibrium. Distribution frequencies of the GG+GT and TT genotypes were69.23% and 30.77% in the oxalate calcium urolithiasis group and 79.62% and 20.38% in the healthy control group. Differences between the two groups were statistically significant(P<0.05). Distribution frequencies of the G and T all eles in the two groups were respectively 45.10% and 55.90% and 54.14% and -45.86%-with statistical differences (P<0.05).　Subjects with the TT genotype yielded a 1.736- fold increased risk for calcium oxalate nephrolithiasis,compared with subjects with the GT+GG genotype(OR=1.736,95%-CI=1.026～2.938),however,we did not find an association between HSPG gene polymorphism and the possibility of stone recurrence. Conclusion  There is a significant association between HSPG gene polymorphism and calcium oxalate nephrolithisis,and the TT genotype may be a good genetic marker.

Key words: Heparan sulfate proteoglycan; Gene polymorphism; Genotype; Calcium oxalate;     Nephrolithiasis