Multiple sclerosis (MS) is an autoimmune disorder of multifactorial etiology. Family studies have shown strong genetic contributions. Linkage analyses have revealed several regions harboring risk genes including chromosome region 19q13. ILT6 is one of the most interesting candidate genes, since ILTs are involved in the generation of immunological tolerance. There is an absence/presence of variability of the ILT6 gene comprising several exons, thus incapacitating the gene function. In the present study, we examined the association of ILT6 deletion with MS. Using PCR typing, deficiency of ILT6 was examined in 607 blood donors and in 751 Caucasian German, as well as 89 French MS patients. Homozygous ILT6 deficiencies were significantly more prevalent in MS patients (7.1%) than in blood donors (3.8%; P ¼ 0.009). ILT6 deficiency is associated with MS in the German population and hence a likely risk factor for autoimmune disorders.
Associations of null polymorphism (copy number variation) of detoxification genes GSTM1, GSTT1 and GSTP1 (at rs2495636, 105 Ile/Val) with the breast cancer (BC) were assessed in two main ethnic groups of the Republic of Kazakhstan (Kazakhs and Russians). Total number of patients was 181, and of controls 397. Statistically significant difference was observed between BC patients and healthy individuals in alleles frequency (χ 2 = 4.89, р = 0.007) of GSTP1 gene at rs2495636 (105 Ile/Val) among the Kazakhs ethnic group. Difference in genotypes distribution (χ 2 =5.26, р = 0.076) at this site is approximating to be statistically significant. In the Russian group, no differences were found in genotypes and alleles atrs 2495636 of GSTP1 gene between cases and controls. There was no significant difference between null polymorphism (copy number variation) of GSTM1 and GSTT1 genes among cases and controls in both ethnic groups.
Associations of polymorphisms in rs4646903 site of CYP1A1 and rs1056836 site of CYP1B1 genes with the breast cancer (BC) were studied in two main ethnic groups of Kazakhstan Republic (Kazakhs and Russians). Total number of BC patients was 181, controls-397. The statistically significant differences were revealed in allele frequencies (χ 2 = 5.93, р = 0.004) and in genotypes distribution (χ 2 = 8.71, р = 0.015) in rs4646903 site of CYP1A1 gene in Kazakh but not in Russian group. The study of CYP1В1 rs1056836 site demonstrated differences in genotype distributions (χ 2 = 7.48, р = 0.023) between BC patients and controls in Russian but not in Kazakh ethnic group.
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