Analysis of CTLA-4+49A/G gene polymorphism in cases with leprosy of Azerbaijan, Northwest Iran.

Leprosy, which is developed by the obligate intracellular Mycobacterium leprae (ML); has different manifestations, associated with the host immune responses. The protective immune response against ML includes T-cell-mediated immunity. The CTLA-4 has a great impact as a negative regulator of the immune response and maintenance of peripheral tolerance. This study analyzed the relationship between CTLA-4+49A/G gene polymorphism and clinical manifestation of leprosy disease and susceptibility among the Azeri population living Northwest Iran. One hundred and ninety-two leprosy patients and 185 healthy controls participated in the study. CTLA-4+49A/G genotyping was conducted via tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) analysis. The allelic and genotypic frequencies of +49A/G gene polymorphism were similar in controls and patients. However, older ages, older age of onset and over-representation in male were observed in lepromatous leprosy patient carriers of GG genotype. The current study demonstrates that although CTLA-4+49A/G polymorphism was not correlated with a higher genetic risk for leprosy, the presence of a GG genotype was associated with older ages, older age of onset and over-representation in male in Iranian Azeri population.

Protein tyrosine phosphatase non-receptor type 22 gene polymorphism C1858T is not associated with leprosy in Azerbaijan, Northwest Iran.

BACKGROUND: Leprosy (Hansen's disease) is a human chronic granulomatous infectious disease caused by Mycobacterium leprae. Several types of study support a role for host genetics in susceptibility to leprosy. The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene encodes an intracellular lymphoid protein tyrosine phosphatase that has been shown to play a negative regulatory role in T-cell activation. AIMS: The aim of the present study was to find out associating the PTPN22 C1858T (R620W) polymorphism and leprosy in the Azeri population from Northwest Iran. MATERIALS AND METHODS: A total of 153 treated leprosy patients and 197 healthy and ethnic matched controls entered this study. We used restriction fragment length polymorphism method to type PTPN22 C1858T polymorphism. RESULTS: There was no significant difference in distribution of genotype and allele frequencies of PTPN22 C1858T polymorphism between leprosy patients and controls (P = 0.641 and 0.645; respectively). Moreover, there was no significant association between different clinical findings (karnofsky performance status score, clinical forms and manifestations of leprosy) and PTPN22 C1858T polymorphism. Data showed a low frequency of the minor (T) allele by 2.3% in leprosy and 1.5% in healthy individuals. CONCLUSIONS: The PTPN22 C1858T (R620W) is not relevant in susceptibility to leprosy in the Azeri population of Northwest Iran.