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1.  ABO blood group frequency in Ischemic heart disease patients in Pakistani population 
Objectives: To determine if there is any significant association between ABO blood groups and ischemic heart disease (IHD).
Methods: The study was performed at Punjab Institute of Cardiology (PIC), Lahore. Study duration was from January 2012 to September 2012. This study included 200 IHD patients and 230 control individuals. Self design questionnaire was used to collect information regarding risk factors. Standard agglutination test was performed to determine the blood groups. Data was analyzed on SPSS 16.
Results: The prevalence of blood groups in IHD group was 34% in blood group A, 29% in blood group B, 14% in blood group AB and 23% in blood group O. In control group the distribution of B, A, AB and O blood groups were 34.4%, 20.9%, 12.6%, 32.2% respectively. Rh+ve factor was prevalent in 90.5% among IHD group and 92.6% in control subjects. The prevalence of IHD was more in males (63.5%) as compared to females (36.5%). Mean age was 56.4±0.86 (yrs) and BMI was 26.4±0.33 (kg/m2). The prevalence of hypertension was 58.5%, diabetes was 53%, family history of cardiac disease was 45%, 35.5% of patients were doing exercise regularly, 58.5% used ghee, and 58% were smokers.
Conclusion: Subjects with blood group A had significantly (p< 0.05) higher risk of developing IHD as compare to other blood groups.
PMCID: PMC4048513  PMID: 24948986
ABO blood group; Ischemic heart disease
2.  Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families 
The British journal of ophthalmology  2011;95(7):1019-1024.
To identify disease-causing mutations in two consanguineous Pakistani families with fundus albipunctatus.
Affected individuals in both families underwent a thorough clinical examination including funduscopy and electroretinography. Blood samples were collected from all participating members and genomic DNA was extracted. Exclusion analysis was completed with microsatellite short tandem repeat markers that span all reported loci for fundus albipunctatus. Two-point logarithm of odds (LOD) scores were calculated, and coding exons and exon–intron boundaries of RLBP1 were sequenced bi-directionally.
The ophthalmic examination of affected patients in both families was consistent with fundus albipunctatus. The alleles of markers on chromosome 15q flanking RLBP1 segregated with the disease phenotype in both families and linkage was further confirmed by two-point LOD scores. Bi-directional sequencing of RLBP1 identified a nonsense mutation (R156X) and a missense mutation (G116R) that segregated with the disease phenotype in their respective families.
These results strongly suggest that mutations in RLBP1 are responsible for fundus albipunctatus in the affected individuals of these consanguineous Pakistani families.
PMCID: PMC3459316  PMID: 21447491
3.  A Novel Locus for Autosomal Recessive Retinitis Pigmentosa in a Consanguineous Pakistani Family Maps to Chromosome 2p 
American Journal of Ophthalmology  2010;149(5):861-866.
To identify a disease locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.
Prospective linkage study.
Blood samples were collected and genomic DNA was extracted. A genome-wide scan was performed using 382 polymorphic microsatellite markers on genomic DNA from 4 affected and 5 unaffected family members, and logarithm of odds scores were calculated.
A maximum 2-point logarithm of odds score of 3.14 at θ = 0 was obtained for marker D2S165 during the genome-wide scan. Fine mapping markers identified a 20.92-cM (19.98-Mb) interval flanked by D2S149 and D2S367 that cosegregates with the disease phenotype. Haplotype analyses further refined the critical interval, distal to D2S220 in a 12.31-cM (13.35-Mb) region that does not harbor any genes that previously have been associated with retinitis pigmentosa.
Linkage analysis identified a new locus for autosomal recessive retinitis pigmentosa that maps to chromosome 2p22.3-p24.1 in a consanguineous Pakistani family.
PMCID: PMC3399686  PMID: 20227676
4.  Prevalence of non Helicobacter pylori species in patients presenting with dyspepsia 
BMC Gastroenterology  2012;12:3.
Helicobacter species associated with human infection include Helicobacter pylori, Helicobacter heilmannii and Helicobacter felis among others. In this study we determined the prevalence of H. pylori and non-Helicobacter pylori organisms H. felis and H. heilmannii and analyzed the association between coinfection with these organisms and gastric pathology in patients presenting with dyspepsia. Biopsy specimens were obtained from patients with dyspepsia on esophagogastroduodenoscopy (EGD) for rapid urease test, histology and PCR examination for Helicobacter genus specific 16S rDNA, H. pylori phosphoglucosamine mutase (glmM) and urease B (ureB) gene of H. heilmannii and H. felis. Sequencing of PCR products of H. heilmannii and H. felis was done.
Two hundred-fifty patients with dyspepsia were enrolled in the study. The mean age was 39 ± 12 years with males 162(65%). Twenty-six percent (66 out of 250) were exposed to cats or dogs. PCR for Helicobacter genus specific 16S rDNA was positive in 167/250 (67%), H. pylori glmM in 142/250 (57%), H. heilmannii in 17/250 (6%) and H. felis in 10/250 (4%), respectively. All the H. heilmannii and H. felis PCR positive patients were also positive for H. pylori PCR amplification. The occurrence of coinfection of H. pylori and H. heilmannii was 17(6%) and with H. felis was 10(4%), respectively. Only one out of 66 exposed to pets were positive for H. heilmannii and two for H. felis. Histopathology was carried out in 160(64%) of 250 cases. Chronic active inflammation was observed in 53(56%) (p = 0.001) of the patients with H. pylori infection alone as compared to 3(37%) (p = 0.73) coinfected with H. heilmannii and H. pylori and 3(60%) coinfected with H. felis and H. pylori (p = 0.66). Intestinal metaplasia was observed in 3(3%)(p = 1.0) of the patients with H. pylori infection alone as compared to 2(25%) (p = 0.02) coinfected with H. heilmannii and H. pylori and 1(20%) coinfected with H. felis and H. pylori (p = 0.15).
The prevalence of H. heilmannii and H. felis was low in our patients with dyspepsia. Exposure to pets did not increase the risk of H. heilmannii or H. felis infection. The coinfection of H. pylori with H. heilmannii was seen associated with intestinal metaplasia, however this need further confirmation.
PMCID: PMC3276444  PMID: 22226326
Dyspepsia; gastric biopsies; H. pylori; H. heilmannii; H. felis; coinfection; cats; dogs
5.  Associations between the Plasticity Region Genes of Helicobacter pylori and Gastroduodenal Diseases in a High-Prevalence Area 
Gut and Liver  2010;4(3):345-350.
Genes associated with the Helicobacter pylori (H. pylori) plasticity region may play a role in the pathogenesis of H. pylori. We compared the genes jhp0940, jhp0947, and jhp0986 in H. pylori isolates from patients with different gastroduodenal diseases and in different age groups.
The H. pylori hyperplasticity region genes jhp0940, jhp0947, and jhp0986 were studied by PCR. We also evaluated whether these genes were related to the cytotoxin-associated gene (cagA) and histology findings.
Of the patient cohort, 71 (62%) were positive for jhp0940, 67 (59%) for jhp0947, 12 (10%) for jhp0986, and 69 (60%) for cagA. jhp0940 (n=18, 67%) and jhp0947 (n=23, 85%) were found more frequently in duodenal ulcer (DU) patients than in gastritis patients (n=14, 39%; p=0.029 and p<0.001, respectively). Gastric ulcer (GU) was more frequently associated with jhp0940 (17 patients, 77%; p=0.003) than with gastritis (14 patients, 39%). Gastric carcinoma (GC) was more strongly associated with both jhp0940 (22 patients, 76%; p=0.003) and jhp0947 (22 patients, 76%; p=0.003) than was gastritis (14 patients, 39%). jhp0947 was more frequently associated with chronic active inflammation (58 patients, 87%; p=0.009) than with chronic inflammation (9 patients, 13%). Multivariate analysis demonstrated that jhp0947 was associated with DU (odds ratio, 6.1; 95% confidence interval, 1.87-20).
The genes jhp0947 and jhp0940 were identified in H. pylori isolates from patients with GC and DU, while jhp0940 was also isolated from patients with GU. jhp0947 was independently associated with DU.
PMCID: PMC2956346  PMID: 20981211
Helicobacter pylori; Hyperplasticity region; Gastric carcinoma; Duodenal ulcer; Gastric ulcer

Results 1-5 (5)