CCR2 allele polymorphisms in 15 Chinese ethnic populations

Abstract

Chemokine receptor-2 (CCR2) is a co-receptor for the entry of human immunodeficiency virus-1 (HIV-1) into the target cells. A mutation in CCR2 (CCR2-64I) exhibited a protective effect to delay the progression of acquired immunodeficiency syndrome (AIDS). To study the mutant frequency and polymorphism of CCR2 in Chinese populations, 1082 individuals from 15 Chinese populations distributing widely from north to south were collected. The genotypes of CCR2-64I were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with the digestion of restriction endonuclease FokI. Of the 1082 individuals, 352 (32.53%) were carriers of CCR2-64I allele, 257 of whom (23.75%) were heterozygotes (CCR2-64V/I), whereas 95 (8.78%) were homozygotes (CCR2-64V/V). The frequency of the CCR2-64I allele in those tested individuals was 20.66%. This prevalence of CCR2-64I was higher than what was known for American and European populations. Moreover, the frequencies of CCR2-64I were generally higher in northern China than they were in southern China, and the frequencies had significant variance in 15 populations of China (chi2 = 27.135, P = 0.018).

R620W functional polymorphism of protein tyrosine phosphatase non-receptor type 22 is not associated with pulmonary tuberculosis in Zahedan, southeast Iran

“…(Begovich et al, 2004;Ban et al, 2005;Mori et al, 2005;Chabchoub et al, 2006;Ikegami et al, 2007;Chabchoub et al, 2009). The frequency of the PTPN22-1858T allele in a Chinese population was found to be 1.43% (Zhang et al, 2008). To the best of our knowledge, for the first time, we found a low frequency of the minor allele (T allele frequency of 0.8% in PTB and 2.0% in normal individuals) in a sample of Iranians, which shows that PTPN22 is less polymorphic in our population.…”

Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the localization of the affected tissue

“…76 PTPN22 is also non-polymorphic or almost non-polymorphic in some Asian populations, including Japanese, Korean, Indian and some Chinese populations. [77][78][79][80][81] Two Chinese populations, Uygers and Kazaks, showed relatively high T allele frequencies of 5.3% and 7.0%, respectively; both are Caucasianrelated populations. 81 Diseases showing a strong association with PTPN22 Although not proven, it is believed that the PTPN22 C1858T polymorphism is the main causal mutation for previously described associations of PTPN22 with autoimmune diseases.…”

“…[77][78][79][80][81] Two Chinese populations, Uygers and Kazaks, showed relatively high T allele frequencies of 5.3% and 7.0%, respectively; both are Caucasianrelated populations. 81 Diseases showing a strong association with PTPN22 Although not proven, it is believed that the PTPN22 C1858T polymorphism is the main causal mutation for previously described associations of PTPN22 with autoimmune diseases. 82 Therefore, we focused this meta-analysis only on the C1858T polymorphism.…”

Genetic correlates influencing immunopathogenesis of HIV infection

“…Among the HIV-1 discordant couples in Thailand, CCR2 64I homozygosity was found associated with a reduced risk of viral transmission82. The population frequency of this 64I allele is 8-10 per cent among Caucasians, 15-17 per cent among subjects of African origin2781 and 20.6 per cent in the Chinese populations83. The close proximity of CCR2 gene to CCR5 on chromosome 3p21.384 suggests that the observed impact of this mutation could possibly be as a result of linkage with highly polymorphic CCR5 promoter region.…”