CETP polymorphisms confer genetic contribution to centenarians of Hainan, south of China.

OBJECTIVE: In this paper, we will discuss if the CETP polymorphism contributes to the centenarians in Hainan island. METHODS: We tested the TaqIB and I405V polymorphisms of CETP gene among 276 centenarians and 301 matched healthy individuals by AS-PCR and analyzed the data with SPSS software package (Version 19.0). RESULTS: Our data indicated that allele B1 and V have the significant differences between centenarians and healthy control groups with P < 0.001. Further analysis implied that genotypes B1B1 (P < 0.001, OR = 0.148, 95% CI = 0.095-0.230) and VV (P < 0.001 and OR = 0.353, 95% CI = 0.237-0.525) were significantly different between centenarians and matched controls. The combination of B and V, such as B1B1-II (P < 0.001, OR = 0.128, 95% CI = 0.049-0.329), B1B1-IV (P < 0.001, OR = 0.115, 95% CI = 0.056-0.237), B1B2-VV (P < 0.05, OR = 0.534, 95% CI = 0.310-0.920), and B2B2-VV (P < 0.001, OR = 0.198, 95% CI = 0.086-0.453) have significant differences between centenarians and matched healthy individuals from Hainan. CONCLUSION: Our results implied that allele B1B1 and VV, as well as the combination B1B1-II, B1B1-IV, B1B2-VV and B2B2-VV may contribute to the longevity in centenarians of Hainan, south of China.

[Nine polymorphisms of fibrinogen gene and their association with plasma fibrinogen levels in Hainan Han population].

OBJECTIVE: To investigate the allelic frequencies of polymorphisms of alpha Taq I and beta Bcl I, Hinf I A/C, 448 G/A, beta BsmA I G/C, +1689T/G, -148C/T, -249C/T, -455G/A in Hainan Han population and their association with plasma fibrinogen level. METHODS: Turbidmetric assay was used to measure plasma fibrinogen level of two hundred and thirty-eight healthy individuals. The genotypes were characterized by PCR-RFLP and sequence analysis. The relationships between the genotypes and plasma fibrinogen levels were analyzed by t test and ANOVA. RESULTS: The frequencies of the rare alleles of alpha Taq I and beta Bcl I, Hinf I A/C, 448 G/A, beta BsmA I G/C, +1689T/G, -148C/T, -249C/T, -455G/A polymorphisms were 0.445, 0.239, 0.134, 0.235, 0.273, 0.241, 0.265, 0.441, 0.254 respectively. In the general population, the plasma fibrinogen level is significantly higher in the groups of genotypes -455GA and AA, -148CT and TT, alpha Taq I T1T1 than in the group of wild types(P=0.004, 0.015 and 0.043 respectively). In the men, plasma fibrinogen level is significantly higher in the groups of genotypes -455GA and AA, -148CT and TT, alpha Taq I T1T1, alpha Taq I T1T2 than in the group of wild types(P=0.001, 0.023, 0.003 and 0.032 respectively). In the women, no significant genotype association with plasma fibrinogen level was detected. CONCLUSION: There was linkage disequilibrium between the fibrinogen gene loci. The beta -455G/A beta 448G/A, alpha Fg Taq I polymorphisms were associated with the difference in plasma fibrinogen in men. A(-455), T(-148) and alpha Taq I T1 alleles were associated with higher fibrinogen levels.

[Molecular characterization of 71 cases of glucose-6-phosphate dehydrogenase deficiency in Hainan province].

OBJECTIVE: To molecularly analyze in Han and Li individuals of glucose-6-phosphate dehydrogenase deficiency in Hainan, China. METHODS: The amplification refractory mutation system (ARMS) was employed to detect G1376T, G1388A and A95G mutations. The coding regions and flanking intronic regions from the second to the thirteenth exons of G6PD gene was analyzed by DNA sequencing to characterize the gene mutations in samples without G1376T, G1388A and A95G mutations. RESULTS: Among 29 Han cases of G6PD deficiency, 11 had G1376T (37.9%), 2 G1388A (6.9%), 1 G1376T and G1388A (3.4%) and 1 G1376T and A95G (3.4%) were identified. Mutations of G1376T, G1388A, A95G and their complex accounted for 51.7% of G6PD deficiency in the Han individuals. Among 42 Li cases of G6PD deficiency, 25 had G1376T (59.5%), 6 G1388A (14.3%), 2 A95G (4.8%), 4 G1376T and G1388A (9.5%), 1 G1376T and A95G (2.4% )were identified. These mutations accounted for 90.5% of the Li individuals. Gene mutation of 18 cases (14 Han and 4 Li individuals) remained unknown. Sequencing results of the 18 samples indicated that one case had a single base of T deletion at nucleotide 636 or 637 in the 5th intron (IVS-5 636 or 637 T del) and two cases had C1311T with IVS-11 T93C mutation. CONCLUSION: G6PD G1376T and G1388A are the most common mutations in the populations of the Han and Li nationalities in Hainan. The IVS-5 636 or 637 T del mutation is first reported in Chinese, and the complex mutation of G1376T/A95G is first found in the Li nationality.