No abstract

Background: Rheumatoid arthritis (RA) is an autoimmune, inflammatory disease, caused by environmental and genetic factors. Aim: To elucidate the association of human leukocyte antigen (HLA)-DRB1*/DQB1* alleles/haplotypes and the variations of polymorphic amino acid changes in peptide binding pockets in RA patients from south India. Methods: HLA typing was performed in 176 RA patients and 176 healthy controls by polymerase chain reaction-sequence-specific primers method. Results: Strong susceptible association for alleles such as DRB1*04:01(odds ratio [OR] = 3.66), 04:06 (OR = 3.81), 03:01 (OR = 2.93), 06:01 (OR = 2.53) and protective association for alleles such as DRB1*13:01 (OR = 0.17), 14:01 (OR = 0.15), 05:02 (OR = 0.17), and 05:03 (OR = 0.338) were observed in RA patients. The 2-locus haplotypes such as 04-02:01 (OR = 3.844), 04-06:01 (OR = 6.57), 07-03:01 (OR = 6.16), 07-06:01 (OR = 3.42), 12-06:01 (OR = 5.24), 15-03:01 (OR = 4.69) with susceptibleand DRB1*14-DQB1*05:03 (OR = 0.078) with protective associations were observed in RA patients. The acid-base analysis revealed that the basic group BB allele was positively associated (OR = 2.372) and the acidic group AA allele was negatively associated (OR = 0.086). The analysis on shared epitopes has revealed that the combination QKRAA+, (Q)RRAA+ or (Q)RRAA− was positively associated with RA (OR = 2.78).The amino acid variation at HLA-DQβ molecule revealed susceptible associations for residues E 86 and L 87 (P1); E 74 (P3); A 13 , Y 26 , I/S 28 , T 28 , I 71 and E 74 (P4); L 9 , T 30 , D 37 and D 57 (P9), whereas, the amino acids A 86 and T 87 (P1); S 74 (P3); G 13/26 , A 71 and S 74 (P4); H 30 and T 37 , S 57 (P9), showed protective associations.

No abstract

Neurons are the basic cell structure of the nervous system and responsible for the communication between brain and body. Brain networks are formed from a single neuron to highly complexed interconnected ([?] 100 billion) neurons. Imbalances between excitation and inhibition mechanism of neuronal cells leads to altered brain network causing seizure/epileptic activity. The mechanism is known as an ictogenic mechanism. In particular, epilepsy is characterized by abnormal neuronal cells and several genetic factors are attributed for their development.CHRNA4 is the first epileptic gene discovered in an autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Since, the era of epileptic genetics has reached to peaks and still extending the branches to study in detail to solve the mysteries behind the brain and epileptic/seizure genes. However, genes such as AQP4, SESN3, ARX, NTNG1, NTNG2, TSC1 and TSC2 need more attention in epilepsy genetic studies. Therefore, this review describes brain network during epilepsy (recurrent seizure) as well as deals with recent studies on molecular genetics and identification methods of epilepsy.