Human Genetics And Molecular Medicine - Research Publications
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Item Measuring routine childhood vaccination coverage in 204 countries and territories, 1980�2019: a systematic analysis for the Global Burden of Disease Study 2020, Release 1(Elsevier B.V., 2021-07-21T00:00:00) Galles, Natalie C; Liu, Patrick Y; Updike, Rachel L; Fullman, Nancy; Nguyen, Jason; Rolfe, Sam; Sbarra, Alyssa N; Schipp, Megan F; Marks, Ashley; Abady, Gdiom Gebreheat; Abbas, Kaja M; Abbasi, Sumra Wajid; Abbastabar, Hedayat; Abd-Allah, Foad; Abdoli, Amir; Abolhassani, Hassan; Abosetugn, Akine Eshete; Adabi, Maryam; Adamu, Abdu A; Adetokunboh, Olatunji O; Adnani, Qorinah Estiningtyas Sakilah; Advani, Shailesh M; Afzal, Saira; Aghamir, Seyed Mohammad Kazem; Ahinkorah, Bright Opoku; Ahmad, Sohail; Ahmad, Tauseef; Ahmadi, Sepideh; Ahmed, Haroon; Ahmed, Muktar Beshir; Ahmed Rashid, Tarik; Ahmed Salih, Yusra; Akalu, Yonas; Aklilu, Addis; Akunna, Chisom Joyqueenet; Al Hamad, Hanadi; Alahdab, Fares; Albano, Luciana; Alemayehu, Yosef; Alene, Kefyalew Addis; Al-Eyadhy, Ayman; Alhassan, Robert Kaba; Ali, Liaqat; Aljunid, Syed Mohamed; Almustanyir, Sami; Altirkawi, Khalid A; Alvis-Guzman, Nelson; Amu, Hubert; Andrei, Catalina Liliana; Andrei, Tudorel; Ansar, Adnan; Ansari-Moghaddam, Alireza; Antonazzo, Ippazio Cosimo; Antony, Benny; Arabloo, Jalal; Arab-Zozani, Morteza; Artanti, Kurnia Dwi; Arulappan, Judie; Awan, Asma Tahir; Awoke, Mamaru Ayenew; Ayza, Muluken Altaye; Azarian, Ghasem; Azzam, Ahmed Y; B, Darshan B; Babar, Zaheer-Ud-Din; Balakrishnan, Senthilkumar; Banach, Maciej; Bante, Simachew Animen; B�rnighausen, Till Winfried; Barqawi, Hiba Jawdat; Barrow, Amadou; Bassat, Quique; Bayarmagnai, Narantuya; Bejarano Ramirez, Diana Fernanda; Bekuma, Tariku Tesfaye; Belay, Habtamu Gebrehana; Belgaumi, Uzma Iqbal; Bhagavathula, Akshaya Srikanth; Bhandari, Dinesh; Bhardwaj, Nikha; Bhardwaj, Pankaj; Bhaskar, Sonu; Bhattacharyya, Krittika; Bibi, Sadia; Bijani, Ali; Biondi, Antonio; Boloor, Archith; Braithwaite, Dejana; Buonsenso, Danilo; Butt, Zahid A; Camargos, Paulo; Carreras, Giulia; Carvalho, Felix; Casta�eda-Orjuela, Carlos A; Chakinala, Raja Chandra; Charan, Jaykaran; Chatterjee, Souranshu; Chattu, Soosanna Kumary; Chattu, Vijay Kumar; Chowdhury, Fazle Rabbi; Christopher, Devasahayam J; Chu, Dinh-Toi; Chung, Sheng-Chia; Cortesi, Paolo Angelo; Costa, Vera Marisa; Couto, Rosa A S; Dadras, Omid; Dagnew, Amare Belachew; Dagnew, Baye; Dai, Xiaochen; Dandona, Lalit; Dandona, Rakhi; De Neve, Jan-Walter; Derbew Molla, Meseret; Derseh, Behailu Tariku; Desai, Rupak; Desta, Abebaw Alemayehu; Dhamnetiya, Deepak; Dhimal, Mandira Lamichhane; Dhimal, Meghnath; Dianatinasab, Mostafa; Diaz, Daniel; Djalalinia, Shirin; Dorostkar, Fariba; Edem, Bassey; Edinur, Hisham Atan; Eftekharzadeh, Sahar; El Sayed, Iman; El Sayed Zaki, Maysaa; Elhadi, Muhammed; El-Jaafary, Shaimaa I; Elsharkawy, Aisha; Enany, Shymaa; Erkhembayar, Ryenchindorj; Esezobor, Christopher Imokhuede; Eskandarieh, Sharareh; Ezeonwumelu, Ifeanyi Jude; Ezzikouri, Sayeh; Fares, Jawad; Faris, Pawan Sirwan; Feleke, Berhanu Elfu; Ferede, Tomas Y; Fernandes, Eduarda; Fernandes, Jo�o C; Ferrara, Pietro; Filip, Irina; Fischer, Florian; Francis, Mark Rohit; Fukumoto, Takeshi; Gad, Mohamed M; Gaidhane, Shilpa; Gallus, Silvano; Garg, Tushar; Geberemariyam, Biniyam Sahiledengle; Gebre, Teshome; Gebregiorgis, Birhan Gebresillassie; Gebremedhin, Ketema Bizuwork; Gebremichael, Berhe; Gessner, Bradford D; Ghadiri, Keyghobad; Ghafourifard, Mansour; Ghashghaee, Ahmad; Gilani, Syed Amir; Gl?van, Ionela-Roxana; Glushkova, Ekaterina Vladimirovna; Golechha, Mahaveer; Gonfa, Kebebe Bekele; Gopalani, Sameer Vali; Goudarzi, Houman; Gubari, Mohammed Ibrahim Mohialdeen; Guo, Yuming; Gupta, Veer Bala; Gupta, Vivek Kumar; Guti�rrez, Reyna Alma; Haeuser, Emily; Halwani, Rabih; Hamidi, Samer; Hanif, Asif; Haque, Shafiul; Harapan, Harapan; Hargono, Arief; Hashi, Abdiwahab; Hassan, Shoaib; Hassanein, Mohamed H; Hassanipour, Soheil; Hassankhani, Hadi; Hay, Simon I; Hayat, Khezar; Hegazy, Mohamed I; Heidari, Golnaz; Hezam, Kamal; Holla, Ramesh; Hoque, Mohammad Enamul; Hosseini, Mostafa; Hosseinzadeh, Mehdi; Hostiuc, Mihaela; Househ, Mowafa; Hsieh, Vivian Chia-rong; Huang, Junjie; Humayun, Ayesha; Hussain, Rabia; Hussein, Nawfal R; Ibitoye, Segun Emmanuel; Ilesanmi, Olayinka Stephen; Ilic, Irena M; Ilic, Milena D; Inamdar, Sumant; Iqbal, Usman; Irham, Lalu Muhammad; Irvani, Seyed Sina Naghibi; Islam, Sheikh Mohammed Shariful; Ismail, Nahlah Elkudssiah; Itumalla, Ramaiah; Jha, Ravi Prakash; Joukar, Farahnaz; Kabir, Ali; Kabir, Zubair; Kalhor, Rohollah; Kamal, Zul; Kamande, Stanley M; Kandel, Himal; Karch, Andr�; Kassahun, Getinet; Kassebaum, Nicholas J; Katoto, Patrick DMC; Kelkay, Bayew; Kengne, Andre Pascal; Khader, Yousef Saleh; Khajuria, Himanshu; Khalil, Ibrahim A; Khan, Ejaz Ahmad; Khan, Gulfaraz; Khan, Junaid; Khan, Maseer Adnan; Khan, Moien AB; Khang, Young-Ho; Khoja, Abdullah T; Khubchandani, Jagdish; Kim, Gyu Ri; Kim, Min Seo; Kim, Yun Jin; Kimokoti, Ruth W; Kisa, Adnan; Kisa, Sezer; Korshunov, Vladimir Andreevich; Kosen, Soewarta; Kuate Defo, Barthelemy; Kulkarni, Vaman; Kumar, Avinash; Kumar, G Anil; Kumar, Nithin; Kwarteng, Alexander; La Vecchia, Carlo; Lami, Faris Hasan; Landires, Iv�n; Lasrado, Savita; Lassi, Zohra S; Lee, Hankil; Lee, Yeong Yeh; Levi, Miriam; Lewycka, Sonia; Li, Shanshan; Liu, Xuefeng; Lobo, Stany W; Lopukhov, Platon D; Lozano, Rafael; Lutzky Saute, Ricardo; Magdy Abd El Razek, Muhammed; Makki, Alaa; Malik, Ahmad Azam; Mansour-Ghanaei, Fariborz; Mansournia, Mohammad Ali; Mantovani, Lorenzo Giovanni; Martins-Melo, Francisco Rogerl�ndio; Matthews, Philippa C; Medina, John Robert Carabeo; Mendoza, Walter; Menezes, Ritesh G; Mengesha, Endalkachew Worku; Meretoja, Tuomo J; Mersha, Amanual Getnet; Mesregah, Mohamed Kamal; Mestrovic, Tomislav; Miazgowski, Bartosz; Milne, George J; Mirica, Andreea; Mirrakhimov, Erkin M; Mirzaei, Hamid Reza; Misra, Sanjeev; Mithra, Prasanna; Moghadaszadeh, Masoud; Mohamed, Teroj Abdulrahman; Mohammad, Karzan Abdulmuhsin; Mohammad, Yousef; Mohammadi, Mokhtar; Mohammadian-Hafshejani, Abdollah; Mohammed, Arif; Mohammed, Shafiu; Mohapatra, Archisman; Mokdad, Ali H; Molokhia, Mariam; Monasta, Lorenzo; Moni, Mohammad Ali; Montasir, Ahmed Al; Moore, Catrin E; Moradi, Ghobad; Moradzadeh, Rahmatollah; Moraga, Paula; Mueller, Ulrich Otto; Munro, Sandra B; Naghavi, Mohsen; Naimzada, Mukhammad David; Naveed, Muhammad; Nayak, Biswa Prakash; Negoi, Ionut; Neupane Kandel, Sandhya; Nguyen, Trang Huyen; Nikbakhsh, Rajan; Ningrum, Dina Nur Anggraini; Nixon, Molly R; Nnaji, Chukwudi A; Noubiap, Jean Jacques; Nu�ez-Samudio, Virginia; Nwatah, Vincent Ebuka; Oancea, Bogdan; Ochir, Chimedsuren; Ogbo, Felix Akpojene; Olagunju, Andrew T; Olakunde, Babayemi Oluwaseun; Onwujekwe, Obinna E; Otstavnov, Nikita; Otstavnov, Stanislav S; Owolabi, Mayowa O; Padubidri, Jagadish Rao; Pakshir, Keyvan; Park, Eun-Cheol; Pashazadeh Kan, Fatemeh; Pathak, Mona; Paudel, Rajan; Pawar, Shrikant; Pereira, Jeevan; Peres, Mario F P; Perianayagam, Arokiasamy; Pinheiro, Marina; Pirestani, Majid; Podder, Vivek; Polibin, Roman V; Pollok, Richard Charles G; Postma, Maarten J; Pottoo, Faheem Hyder; Rabiee, Mohammad; Rabiee, Navid; Radfar, Amir; Rafiei, Alireza; Rahimi-Movaghar, Vafa; Rahman, Mosiur; Rahmani, Amir Masoud; Rahmawaty, Setyaningrum; Rajesh, Aashish; Ramshaw, Rebecca E; Ranasinghe, Priyanga; Rao, Chythra R; Rao, Sowmya J; Rathi, Priya; Rawaf, David Laith; Rawaf, Salman; Renzaho, Andre M N; Rezaei, Negar; Rezai, Mohammad Sadegh; Rios-Blancas, Maria; Rogowski, Emma L B; Ronfani, Luca; Rwegerera, Godfrey M; Saad, Anas M; Sabour, Siamak; Saddik, Basema; Saeb, Mohammad Reza; Saeed, Umar; Sahebkar, Amirhossein; Sahraian, Mohammad Ali; Salam, Nasir; Salimzadeh, Hamideh; Samaei, Mehrnoosh; Samy, Abdallah M; Sanabria, Juan; Sanmarchi, Francesco; Santric-Milicevic, Milena M; Sartorius, Benn; Sarveazad, Arash; Sathian, Brijesh; Sawhney, Monika; Saxena, Deepak; Saxena, Sonia; Seidu, Abdul-Aziz; Seylani, Allen; Shaikh, Masood Ali; Shamsizadeh, Morteza; Shetty, Pavanchand H; Shigematsu, Mika; Shin, Jae Il; Sidemo, Negussie Boti; Singh, Ambrish; Singh, Jasvinder A; Sinha, Smriti; Skryabin, Valentin Yurievich; Skryabina, Anna Aleksandrovna; Soheili, Amin; Tadesse, Eyayou Girma; Tamiru, Animut Tagele; Tan, Ker-Kan; Tekalegn, Yohannes; Temsah, Mohamad-Hani; Thakur, Bhaskar; Thapar, Rekha; Thavamani, Aravind; Tobe-Gai, Ruoyan; Tohidinik, Hamid Reza; Tovani-Palone, Marcos Roberto; Traini, Eugenio; Tran, Bach Xuan; Tripathi, Manjari; Tsegaye, Berhan; Tsegaye, Gebiyaw Wudie; Ullah, Anayat; Ullah, Saif; Ullah, Sana; Unim, Brigid; Vacante, Marco; Velazquez, Diana Zuleika; Vo, Bay; Vollmer, Sebastian; Vu, Giang Thu; Vu, Linh Gia; Waheed, Yasir; Winkler, Andrea Sylvia; Wiysonge, Charles Shey; Yi?it, Vahit; Yirdaw, Birhanu Wubale; Yon, Dong Keon; Yonemoto, Naohiro; Yu, Chuanhua; Yuce, Deniz; Yunusa, Ismaeel; Zamani, Mohammad; Zamanian, Maryam; Zewdie, Dejene Tesfaye; Zhang, Zhi-Jiang; Zhong, Chenwen; Zumla, Alimuddin; Murray, Christopher J L; Lim, Stephen S; Mosser, Jonathan F; Nguyen, J.; Marks, A.; Dandona, L.; Dandona, R.; Kassebaum, N.J.; Naghavi, M.; Nixon, M.R.; Murray, C.J.L.; Lim, S.S.; Mosser, J.F.; Dandona, R.; Hay, S.I.; Kassebaum, N.J.; Naghavi, M.; Murray, C.J.L.; Lim, S.S.; Kassebaum, N.J.; Khalil, I.A.; Katoto, P.D.; Ali, L.; Ullah, A.; Hosseini, M.; Moradi, G.; Elsharkawy, A.; Abolhassani, H.; Nnaji, C.A.; Ahmad, S.; Ahmad, T.; Dagnew, A.B.; Sabour, S.; Ahmed, H.; Ahmed, M.B.; Saxena, D.; Dagnew, B.; Desta, A.A.; Tamiru, A.T.; Mersha, A.G.; Aklilu, A.; Alemayehu, Y.; Sathian, B.; Albano, L.; Al-Eyadhy, A.; Altirkawi, K.A.; Temsah, M.; Mohammad, Y.; Alhassan, R.K.; Amu, H.; Aljunid, S.M.; Aljunid, S.M.; Andrei, C.; Hostiuc, M.; Negoi, I.; Andrei, T.; Gl?van, I.; Mirica, A.; Ansar, A.; Antonazzo, I.; Ferrara, P.; Cortesi, P.A.; Mantovani, L.G.; Chowdhury, F.R.; Singh Mtech, A.; Arabloo, J.; Ghashghaee, A.; Ghashghaee, A.; Sarveazad, A.; Artanti, K.D.; Awan, A.T.; Rathi, P.; Babar, Z.; Gebremichael, B.; Zamani, M.; Barrow, A.; Barrow, A.; Tadesse, E.G.; Hosseini, M.; Bassat, Q.; Kulkarni, V.; Kumar, N.; Mithra, P.; Saxena, D.; Ilesanmi, O.S.; Belgaumi, U.I.; Lassi, Z.S.; Shin, J.; Misra, S.; Bhattacharyya, K.; Bhattacharyya, K.; Bibi, S.; Ullah, S.; Boloor, A.; Owolabi, M.O.; Sinha, S.; Braithwaite, D.; Braithwaite, D.; Buonsenso, D.; Buonsenso, D.; Awan, A.T.; Mengesha, E.W.; Tsegaye, G.W.; De Neve, J.; Pottoo, F.H.; Camargos, P.; Couto, R.A.S.; Pinheiro, M.; Chakinala, R.; Chatterjee, S.; Chattu, S.; Chattu, V.; Chattu, V.; Bill, I.; Chu, D.; Chung, S.; Chung, S.; Dandona, L.; Dandona, R.; Ansar, A.; Kumar, G.; Dandona, L.; Desai, R.; Dhimal, M.L.; Dhimal, M.L.; Dhimal, M.; Diaz, D.; Diaz, D.; Velazquez, D.Z.; Eftekharzadeh, S.; El Sayed, I.; El Sayed Zaki, M.; Elhadi, M.; Enany, S.; Erkhembayar, R.; Esezobor, C.I.; Olagunju, A.T.; Esezobor, C.I.; Fares, J.; Faris, P.S.; Faris, P.S.; Tsegaye, B.; Filip, I.; Filip, I.; Fischer, F.; Francis, M.R.; Francis, M.R.; Fukumoto, T.; Gad, M.M.; Hassanein, M.H.; Liu, X.; Saad, A.M.; Gad, M.M.; Garg, T.; Tekalegn, Y.; Mohammed, S.; Gebre, T.; Gebremedhin, K.B.; Gessner, B.D.; Gessner, B.D.; Ghadiri, K.; Ghadiri, K.; Ghafourifard, M.; Moghadaszadeh, M.; Gilani, S.; Malik, A.A.; Gilani, S.; Glushkova, E.V.; Korshunov, V.A.; Lopukhov, P.D.; Golechha, M.; Gopalani, S.V.; Gopalani, S.V.; Goudarzi, H.; Ahmed, M.B.; Goudarzi, H.; Gubari, M.I.M.; Guo, Y.; Li, S.; Guo, Y.; Gupta, V.; Gupta, V.K.; Guti�rrez, R.A.; Hargono Dr, A.; Hassan, S.; Hassan, S.; Hassanipour, S.; Hayat, K.; Hayat, K.; Heidari, G.; Islam, S.; Hsieh, V.; Huang, J.; Zhong, C.; Humayun, A.; Hussain, R.; Hussein, N.R.; Ibitoye, S.E.; Ilesanmi, O.S.; Makki, A.; Noubiap, J.; Santric-Milicevic, M.M.; Santric-Milicevic, M.M.; Inamdar, S.; Iqbal, U.; Irham, L.M.; Ningrum, D.N.A.; Irvani, S.N.; Islam, S.; Kalhor, R.; Kalhor, R.; Kamal, Z.; Kamal, Z.; Karch, A.; Katoto, P.D.; Nnaji, C.A.; Khan, J.; Khoja, A.T.; Khubchandani, J.; Khoja, A.T.; Kim, G.; Kim, M.; Kim, M.; Kim, Y.; Kimokoti, R.W.; Kosen, S.; Kumar, A.; Kwarteng, A.; La Vecchia, C.; Landires, I.; Nu�ez-Samudio, V.; Nu�ez-Samudio, V.; Landires, I.; Lasrado, S.; Levi, M.; Levi, M.; Matthews, P.C.; Moore, C.E.; Liu, X.; Sanabria, J.; Lobo, S.W.; Lobo, S.W.; Malik, A.A.; Mantovani, L.G.; Matthews, P.C.; Medina, J.C.; Medina, J.C.; Mendoza, W.; Menezes, R.G.; Meretoja, T.J.; Meretoja, T.J.; Meretoja, T.J.; Mersha, A.G.; Mesregah, M.K.; Mestrovic, T.; Mestrovic, T.; Milne, G.J.; Mohammad, K.A.; Mohammadi, M.; Mohammed, A.; Mohammed, S.; Mohapatra, A.; Molokhia, M.; Traini, E.; Moradi, G.; Mirzaei, H.; Zamanian, M.; Moraga, P.; Mueller, U.O.; Mueller, U.O.; Munro, S.B.; Naimzada, M.; Naveed, M.; Negoi, I.; Nguyen, T.H.; Vu, L.G.; Nguyen, T.H.; Vu, L.G.; Ningrum, D.N.A.; Ogbo, F.A.; Olagunju, A.T.; Olakunde, B.O.; Onwujekwe, O.E.; Pathak, M.; Pawar, S.; Pereira, J.; Peres, M.F.P.; Peres, M.F.P.; Pirestani, M.; Pollok, R.C.G.; Postma, M.J.; Postma, M.J.; Rabiee, M.; Rezai, M.; Rahman, M.; Rahmawaty, S.; Rajesh, A.; Ranasinghe, P.; Rawaf, D.L.; Rawaf, S.; Rawaf, D.L.; Rawaf, S.; Rwegerera, G.M.; Saeb, M.; Saeed, U.; Saeed, U.; Salam, N.; Samaei, M.; Sanabria, J.; Sanmarchi, F.; Sathian, B.; Sawhney, M.; Seidu, A.; Seidu, A.; Shaikh, M.A.; Shigematsu, M.; Soheili, A.; Tan, K.; Thakur, B.; Traini, E.; Tripathi, M.; Ullah, S.; Ullah, S.; Vo, B.; Vu, G.T.; Winkler, A.S.; Winkler, A.S.; Yu, C.; Yuce, D.Background: Measuring routine childhood vaccination is crucial to inform global vaccine policies and programme implementation, and to track progress towards targets set by the Global Vaccine Action Plan (GVAP) and Immunization Agenda 2030. Robust estimates of routine vaccine coverage are needed to identify past successes and persistent vulnerabilities. Drawing from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2020, Release 1, we did a systematic analysis of global, regional, and national vaccine coverage trends using a statistical framework, by vaccine and over time. Methods: For this analysis we collated 55 326 country-specific, cohort-specific, year-specific, vaccine-specific, and dose-specific observations of routine childhood vaccination coverage between 1980 and 2019. Using spatiotemporal Gaussian process regression, we produced location-specific and year-specific estimates of 11 routine childhood vaccine coverage indicators for 204 countries and territories from 1980 to 2019, adjusting for biases in country-reported data and reflecting reported stockouts and supply disruptions. We analysed global and regional trends in coverage and numbers of zero-dose children (defined as those who never received a diphtheria-tetanus-pertussis [DTP] vaccine dose), progress towards GVAP targets, and the relationship between vaccine coverage and sociodemographic development. Findings: By 2019, global coverage of third-dose DTP (DTP3; 81�6% [95% uncertainty interval 80�4�82�7]) more than doubled from levels estimated in 1980 (39�9% [37�5�42�1]), as did global coverage of the first-dose measles-containing vaccine (MCV1; from 38�5% [35�4�41�3] in 1980 to 83�6% [82�3�84�8] in 2019). Third-dose polio vaccine (Pol3) coverage also increased, from 42�6% (41�4�44�1) in 1980 to 79�8% (78�4�81�1) in 2019, and global coverage of newer vaccines increased rapidly between 2000 and 2019. The global number of zero-dose children fell by nearly 75% between 1980 and 2019, from 56�8 million (52�6�60�9) to 14�5 million (13�4�15�9). However, over the past decade, global vaccine coverage broadly plateaued; 94 countries and territories recorded decreasing DTP3 coverage since 2010. Only 11 countries and territories were estimated to have reached the national GVAP target of at least 90% coverage for all assessed vaccines in 2019. Interpretation: After achieving large gains in childhood vaccine coverage worldwide, in much of the world this progress was stalled or reversed from 2010 to 2019. These findings underscore the importance of revisiting routine immunisation strategies and programmatic approaches, recentring service delivery around equity and underserved populations. Strengthening vaccine data and monitoring systems is crucial to these pursuits, now and through to 2030, to ensure that all children have access to, and can benefit from, lifesaving vaccines. Funding: Bill & Melinda Gates Foundation. � 2021 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 licenseItem Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy(Elsevier, 2014) Prasad, D.K.V.; Shaheen, U.; Satyanarayana, U.; Prabha, T.S.; Jyothy, A.; Munshi, A.The idiopathic generalized epilepsy (IGE) is a neurological disorder which accounts for approximately 30% of all epilepsy cases. Patients identified with IGE syndromes have pharmacoresponsive epilepsies without abnormal neurological symptoms, structural brain lesions and are of unknown origin. A genetic etiology to IGEs has been proposed. Gamma amino butyric acid (GABA), a major inhibitory neurotransmitter acts by binding to transmembrane GABAA and GABAB receptors of both pre- and postsynaptic neurons. Synapsin II (SynII), a neuron specific phosphoprotein plays a major role in synaptogenesis and neurotransmitter release. The present study was carried out with an aim to evaluate the association of GABRA6 (rs3219151) T>C and Syn II (rs37733634) A>G gene polymorphisms with IGE. Molecular analysis revealed that the frequency of 'CC' genotype and 'C'allele of GABRA6 (rs3219151) T>C gene polymorphism was significantly higher in IGE patients compared to healthy controls [CC vs. TT, ?2=26; p<0.001; Odds ratio=3.6 (95% CI; 2.1-5.9); C vs T, ?2=24.7; p<0.001; Odds ratio=1.78 (95% CI; 1.4-2.2)]. The frequency of 'GG' genotype and 'G' allele of the intronic polymorphism A>G in Syn II gene was also found to be significantly associated with the disease when compared to controls [GG vs AA, ?2=64.52; p<0.001; Odds ratio=7.37 (95% CI; 4.4-12.3); G vs. A, ?2=65.78; p<0.001; Odds ratio=2.57 (95% CI; 2.0-3.2)]. The generalized multifactor dimensionality reduction method was employed to detect gene-gene interactions. The gene-gene interaction at two loci involving GABRA6 and Syn II revealed a significant association [?2=36.6, p<0.001, Odds ratio=3.17 (95% CI; 2.2-4.6)] with IGE. Therefore, the present study clearly indicates that both GABRA6 (rs3219151) T>C and Syn II (rs37733634) A>G polymorphisms are important risk factors for the development of IGE in the South Indian population from Andhra Pradesh. The gene-gene interaction studies demonstrated significant interactive effects of these two loci in the development of the disease. ? 2014 Elsevier B.V.Item A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family(2012) Saini, S.; Robinson, P.N.; Singh, J.R.; Vanita, V.To localize and identify the gene linked with non-syndromic autosomal dominant retinitis pigmentosa (adRP) with high but not complete penetrance in an Indian family. A detailed family history and clinical data were recorded. A genome-wide scan by 2-point linkage analysis using nearly 400 fluorescently labeled microsatellite markers in combination with multipoint lod score and haplotype analysis was carried out. Mutation screening was performed in the candidate gene by bidirectional sequence analysis of the amplified products. A maximum 2-point lod score of 3.553 at theta = 0.0 was obtained with marker D19S572. Haplotype analysis placed the RP locus distal to marker D19S572, in close proximity to the gene for pre-mRNA processing factor 31 (PRPF31) at 19q13.42. Mutation screening in all 14 exonic regions and adjacent flanking intronic sequences of PRPF31 revealed a novel 7 bp deletion, c.59_65del7 (p.Gly20AlafsX43), in the first coding exon of PRPF31. This leads to a premature termination codon (PTC) in the next exon, 43 amino acids downstream. The observed 7 bp deletion in PRPF31 was identified in all the tested 10 affected members and in an unaffected individual, consistent with a high, but not the complete penetrance of c.59_65del7 (p.Gly20AlafsX43). This deletion was not observed in other tested six unaffected family members or in 100 ethnically matched control subjects. The present study describes mapping of a locus for non-syndromic adRP at 19q13.42 (RP11 locus) in a family of Indian origin and identifies a novel deletion, c.59_65del7, in PRPF31 within the mapped interval. Since the mutant PRPF31 is truncated relatively close to the N-terminus of the protein, haploinsufficiency rather than aberrant protein formation is likely to be the underlying mechanism of the disease. The present findings further substantiate the role of PRPF31 that encodes a component of the spliceosome complex in relation to ADRP. ? 2012 Elsevier Ltd.