ABSTRACT
Spirometry based measurement of lung function is a global initiative for chronic obstructive lung disease (GOLD) standard to diagnose chronic obstructive pulmonary disease (COPD), one of the leading causes of mortality worldwide. Theenvironmental and behavioural risk factors for COPD includes tobacco smoking, air pollutants and biomass fuel exposure, which can induce one or more abnormal lung function patterns. While smoking remains the primary risk factor, only 15–20% smokers develop COPD, indicating that the genetic factors are also likely to play a role. According to the study of Global Burden of Disease 2015, ∼174 million people across the world have COPD. From a comprehensive literature search conducted using the ‘PubMed’ and ‘GWAS Catalogue’ databases, and reviewing the literature available, only a limited number of studies were identified which hadattempted to investigate the genetics of COPD and lung volumes, implying a huge research gap. With the advent of genomewide association studies several genetic variants linked to lung function and COPD, like HHIP, HTR4, ADAM19 and GSTCD etc., have been found and validated in different population groups, suggesting their potential role in determining lung volume and risk for COPD. This article aims at reviewing the present knowledge of the genetics of lung function and COPD
ABSTRACT
Nonalcoholic fatty liver disease (NAFLD) is characterized by the accumulation of fat in the liver without any history of chronic alcohol consumption. It encompasses a wide spectrum of diseases that range from simple steatosis to nonalcoholicsteatohepatitis. NAFLD is strongly associated with obesity, insulin resistance / type-2 diabetes mellitus and the metabolic syndrome. NAFLD is a complex disorder; environmental and genetic factors interact with NAFLD manifestation and determine its progression. In this review, an attempt was made to provide current information on the genetic variants of NAFLD in Asian populations. Literature search was performed by using PubMed, Medline and Google Scholar database. Candidate gene, validation and genomewide association studies (GWASs) were included in this review. A total of 41 studies fulfilled inclusion criteria of which 12 candidate gene studies exclusively focussed on the PNPLA3 gene and 17 other studies on other important candidate genes such as NCANCILP2, PPARG,AGTR1, FABP1, APOC3 etc. reported significant association with NAFLD. Eight validation studies identified associations of variants on PNPLA3, LYPLAL1, TM6SF2, ADIPOR2, STAT3, GCKR, SAMM50 etc. with NAFLD. Thus, so far, four GWASs have been conducted in Asian population that reported PNPLA3, SAMM50, PARVB and GATAD2A genes which were significantly associated with NAFLD. Findings indicate that PNPLA3, APOC3, PPARG, NCAN and GCKR genes emerge out to be the important biological markers associated with NAFLD.
ABSTRACT
Background: Cutaneous leishmaniasis in India is mainly confi ned to the deserts of Rajasthan; some cases have been reported from the dry north-western half of the Indo-Gangetic plain, including Punjab, Himachal Pradesh, Delhi and Varanasi. Aims: To highlight a new focus of cutaneous leishmaniasis in the Jammu division of Jammu and Kashmir State, previously a non-endemic area. This report presents the clinico-epidemiological and investigative results of 120 new cases of cutaneous leishmaniasis detected between November 2012 and October 2013. Methods: The clinical diagnosis of cutaneous leishmaniasis was made using criteria proposed by Bari and Rahman. It was further confi rmed by the demonstration of Leishman-Donovan bodies in Leishman stained slit skin smears and skin biopsy specimens, and/or by a satisfactory response to intra-lesional sodium stibogluconate given weekly for 4 weeks. Serial clinical photographs were taken before giving injections and at the end of the 6th week. Results: There were 67 females and 53 males with an age range of 8 months to 80 years. The most frequently affected site was the face. Lesions were most commonly of the nodulo-ulcerative type. The number of lesions ranged from 1 to 4. Farmers (28.1%), homemakers (27.2%) and students (27.2%) were signifi cantly over-represented among the occupations (P < 0.001). Skin smears and biopsies were positive for Leishman-Donovan bodies in 50.8% and 44.2% cases, respectively. Conclusions: There is a new focus of cutaneous leishmaniasis in Jammu division which deserves urgent attention from the public health angle. Further epidemiological studies are warranted to establish the identity of the vector and the strain of Leishmania involved.