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To assess the significance of polymorphisms of the genes for angiotensin-converting enzyme (ACE), angiotensin-converting enzyme 2 (ACE2) and urotensin II (UTS2) as risk factors for essential hypertension in two populations from north-western China, we enrolled 198 patients with essential hypertension and 131 healthy controls from the Han population and 120 patients with essential hypertension and 102 healthy controls from the Dongxiang population. Polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism were used to analyse gene polymorphisms. The results provided evidence that genetic variants of UTS2 and ACE2 may play a role in the development of essential hypertension in these populations. Polymorphisms of ACE were not associated with essential hypertension in either population. This is the first report showing that the S89N single-nucleotide polymorphism of the UTS2 gene is associated with essential hypertension.

Systemic sclerosis (SSc) is an immune-mediated and complex genetic disease. An association of single-nucleotide polymorphisms (SNPs) in the STAT4 gene with SSc has been reported in European Caucasians, North Americans and Japanese. We undertook the current study to examine whether the STAT4 SNPs are also associated with susceptibility to SSc and SSc subsets in a Han Chinese population. A total of 453 Han Chinese patients with SSc and 534 healthy controls were examined in the study. The SNPs rs7574865, rs10168266 and rs3821236 of the STAT4 gene were examined with SNP TaqMan assays. The T-allele carriers of rs7574865 and rs10168266 were strongly associated with the presence of anti-topoisomerase I (ATA) and pulmonary fibrosis in SSc patients, as well as with diffuse cutaneous SSc (dcSSc). The presence of anti-centromere (ACA) and limited cutaneous SSc (lcSSc) did not show significant association with any of the examined SNPs. The results were consistent with previous reports in other ethnic populations in supporting the notion that polymorphisms of STAT4 may play an important role in susceptibility to SSc. It also revealed different genetic aspects of SSc subsets in a Han Chinese population.

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