Genetic polymorphisms of enzymes involved in estrogen synthesizing/transporting can influence the risk of hormone-dependent diseases. The incidence rate and relative risk for hepatocellular carcinoma (HCC) are higher in men than in women. This study was conducted to explore the relationship of single nucleotide polymorphisms (SNPs) in 17 β-Hydroxysteroid dehydrogenases (HSD17B1 and HSD17B2) and sex hormone-binding globulin (SHBG) genes with the risk of HCC within Chinese Han population. Polymorphisms of HSD17B1 rs676387, HSD17B2 rs8191246 and SHBG rs6259 were genotyped in 253 HCC patients and 438 healthy control subjects using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Significantly increased HCC risk was found to be associated with T allele of rs676387 and G allele of rs8191246. Increased HCC risks were found in different genetic model (TT genotype in a recessive model, T allele carriers in a dominant model, TT genotype and TG genotype in a codominant model for HSD17B1 rs676387, G allele carriers in a dominant model and AG genotype in a codominant model for HSD17B2 rs8191246, respectively). No association between SHBG rs6259 and HCC risk was observed. The present study provided evidence that HSD17B1 rs676387 and HSD17B2 rs8191246 were association with HCC development. Further studies in diverse ethnic population with larger sample size were recommended to confirm the findings.
and FGA were observed in a sample of 500 unrelated Uygur in Xinjiang Uygur Autonomous Region. The genotype frequency distribution of each locus did not deviate from the Hardy-Weinberg equilibrium, and the forensic statistical parameters showed high values. We also compared Uygur group with the other 13 neighboring populations(Chinese Salar ethnic, Chinese Ewenki ethnic, Chinese Tibetan, Chinese Tu ethnic, Chinese Han, Chinese Yi ethnic, Indian, Iraq, Pakistan Kashmiri Muslim, Palestinian, Turkey, Nepal and East Mongolian) at some STR loci, and found all of the 13 population shown significant differences with the Uygur ethnic group. Our results of present study were valuable for forensic application and Chinese population genetic studies.
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